首页 期刊 论文 学科刊群 资讯 加盟 关于
EN
image
Article(id=1194649187255030576, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1194643387904136153, articleNumber=null, orderNo=null, doi=10.11855/j.issn.0577-7402.1139.2024.1018, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=research-article, receivedDate=1722441600000, receivedDateStr=2024-08-01, revisedDate=null, revisedDateStr=null, acceptedDate=1725724800000, acceptedDateStr=2024-09-08, onlineDate=1762756161750, onlineDateStr=2025-11-10, pubDate=1737993600000, pubDateStr=2025-01-28, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1762756161750, onlineIssueDateStr=2025-11-10, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1762756161750, creator=13701087609, updateTime=1762756161750, updator=13701087609, issue=Issue{id=1194643387904136153, tenantId=1146029695717560320, journalId=1189873630562394117, year='2025', volume='50', issue='1', pageStart='1', pageEnd='120', issueExtLink='null', onlineDate='null', pubDate='null', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=1, issueType=-1, specialIssue=0, createTime=1762754779076, creator=13701087609, updateTime=1762756450259, updator=13701087609, preIssue=null, nextIssue=null, ext={EN=IssueExt(id=1194650397408203370, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1194643387904136153, language=EN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=), CN=IssueExt(id=1194650397408203371, tenantId=1146029695717560320, journalId=1189873630562394117, issueId=1194643387904136153, language=CN, specialIssueTitle=, coverIllustrator=null, specialIssueEditor=, specialIssueAbout=)}, issueFiles=null}, startPage=50, endPage=56, ext={EN=ArticleExt(id=1194649187456357169, articleId=1194649187255030576, tenantId=1146029695717560320, journalId=1189873630562394117, language=EN, title=Sex development disorder with discordant chromosome karyotype and gene detection: a case report and literature review, columnId=1190310109000602400, journalTitle=Medical Journal of Chinese People’s Liberation Army, columnName=Clinical Research, runingTitle=null, highlight=null, articleAbstract=

Objective To report the diagnosis, treatment, and verification process of a patient with sex development disorder whose chromosomal karyotype and genetic test results are inconsistent, and conduct a literature review to improve the understanding of the mosaic status of sexual development disorders. Methods A 14-year-old patient presented with primary amenorrhea on April 3, 2020, at the First Affiliated Hospital of Hebei North University, exhibiting female sexual characteristics. The patient underwent ultrasonic/magnetic resonance imaging of gonads, assessment of gonadal axis function, chromosomal karyotype, and molecular genetic testing, as well as pelvic exploration, malignant gonads resection, and hormone replacement therapy, resulting in drug-induced menstruation. During the diagnosis and treatment, it was found that the patient's chromosomal karyotype analysis was inconsistent with the molecular genetic test results. Subsequently, samples from the three germ layer cells were taken, and fluorescence in situ hybridization (FISH) was used to detect the sex chromosomes in each germ layer cell. XY probes were used to label the gonadal pathological sections to explore the distribution differences of the Y chromosome in the gonads, and changes in anti-Müllerian hormone (AMH) levels before and after surgery were compared. Databases such as Wanfang and PubMed were searched to summarize relevant cohort study literature and understand the current status of research on this disease. Results The patient's body exhibited a significant differences between the 45,X and 46,XY cell lines in different germ layers and within the same layer tissues. The proportion of 45,X in buccal mucosal cells derived from the ectoderm was 30% (6/20), in peripheral blood lymphocytes derived from the mesoderm was 9.7% (11/114), and in bladder shed cells derived from endoderm was 20.4% (22/108). The gonadal pathological sections labeled with XY probes indicated a mosaic state with a reduced Y-chromosome; where the epididymal structure area had a 45,X cell line mosaic of 50.0%, and the malignant area had a normal "Y" content. After gonadal resection, AMH levels significantly dropped from 7.28 pmol/L to <0.07 pmol/L. Literature review revealed that patients with 45,X/46,XY have a complex phenotype spectrum, most with features of Turner syndrome, and female phenotypes are at risk of gonadal tumors. Conclusions In the diagnosis of difficult cases of sex development disorders, when performing peripheral blood karyotype testing, the number of counted cells and analyzed cells should be increased as much as possible, and multi-germ layer cell sampling should be performed. Gonads with a high "Y" mosaic rate are more prone to malignancy in the abdominal cavity. Detecting AMH levels can distinguish cryptorchidism and anorchidism in sexual development disorders with Y chromosomes.

, correspAuthors=null, authorNote=null, correspAuthorsNote=null, copyrightStatement=null, copyrightOwner=null, extLink=null, articleAbsUrl=null, sourceXml=null, magXml=null, pdfUrl=null, pdf=null, pdfFileSize=null, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=null, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=null, mapNumber=null, authorCompany=null, fund=null, authors=null, authorsList=Yan-Lin Ren, Ya-Li Li, Kun Li, Fan Zhang, Li-Min Rong, Xiao-Ping Yu, Jun Gu, Yan-Hua Kang, Ying He), CN=ArticleExt(id=1194649361138290904, articleId=1194649187255030576, tenantId=1146029695717560320, journalId=1189873630562394117, language=CN, title=染色体核型与基因检测不符的性发育异常1例报道并文献复习, columnId=1190310109164180259, journalTitle=解放军医学杂志, columnName=临床研究, runingTitle=null, highlight=null, articleAbstract=

目的 报道1例染色体核型与基因检测结果不符的性发育异常患者的诊治及验证过程，并进行文献复习，以提高对性发育异常嵌合状况的认识。方法 患者，14岁，2020年4月3日因“原发性闭经”就诊于河北北方学院附属第一医院，为女性性征，经超声/磁共振探查性腺、性腺轴功能测定、染色体核型和分子基因检测，以及盆腔探查、恶变性腺切除、激素替代等诊疗，药物性月经来潮。诊疗中发现患者染色体核型分析与分子基因检测结果不符，遂行三胚层细胞分别取样，荧光原位杂交技术(FISH)检测各胚层细胞的性染色体，XY探针标记性腺病理切片探究Y染色体在性腺中的分布差异，并比较手术前后抗米勒管激素(AMH)水平的变化。检索万方、PubMed等数据库，汇总相关的队列研究文献，了解该疾病目前的研究现状。结果 患者体内45,X与46,XY细胞系在不同胚层以及同一胚层发生的组织间的嵌合差异较大。外胚层来源的口腔颊黏膜细胞45,X占比为30.0%(6/20)，中胚层来源的外周血淋巴细胞45,X占比为9.7%(11/114)，内胚层来源的膀胱脱落细胞45,X占比为20.4%(22/108)。XY探针标记的性腺病理切片提示一个减Y的嵌合状态，其中附睾结构区45,X细胞系嵌合占50.0%，恶性区域“Y”含量正常。性腺切除后AMH由7.28 pmol/L降至<0.07 pmol/L。复习文献发现，45,X/46,XY患者表型谱复杂，多数有Turner综合征的特征，女性表型有发生性腺肿瘤的风险。结论 诊断性发育异常的疑难病例行外周血核型检测时须尽量增加计数细胞和分析细胞的数目，并行多胚层细胞取样；“Y”嵌合率高的性腺在腹腔中更易恶变；检测AMH水平可鉴别含Y染色体性发育异常的隐睾和无睾状态。

, correspAuthors=null, authorNote=null, correspAuthorsNote=null, copyrightStatement=null, copyrightOwner=null, extLink=null, articleAbsUrl=null, sourceXml=Wm+OAbWreA455MXEQfOamg==, magXml=A+pKcW4ozvj34RyLwQR/5A==, pdfUrl=null, pdf=mVRO6e0WrsXNbM67CRJjyQ==, pdfFileSize=2343911, pdfExtLink=null, richHtmlUrl=null, mobilePdfUrl=null, reviewReport=null, pdfFirstPage=null, abstractGraph=Y6Fv0a4928/CFRR3rIG0pw==, abstractGraphContent=null, abstractVideo=null, citation=null, cebUrl=null, magXmlContent=TYtmas1hDW+UoLUeDVESsQ==, mapNumber=null, authorCompany=null, fund=null, authors=

任雁林，医学硕士，主任医师，主要从事生殖内分泌方面的研究

, authorsList=任雁林, 李亚丽, 李坤, 张凡, 戎立敏, 余小平, 谷君, 康燕华, 贺英)}, authors=[Author(id=1194661955853062765, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=0, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661955941143151, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661955853062765, language=EN, stringName=Yan-Lin Ren, firstName=Yan-Lin, middleName=null, lastName=Ren, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=1, address=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661956004057712, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661955853062765, language=CN, stringName=任雁林, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=1, address=1河北北方学院附属第一医院妇产科，河北张家口 075000, bio={"content":"

任雁林，医学硕士，主任医师，主要从事生殖内分泌方面的研究

"}, bioImg=null, bioContent=

任雁林，医学硕士，主任医师，主要从事生殖内分泌方面的研究

, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955551072862, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=1, ext=[AuthorCompanyExt(id=1194661955555267167, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955567850080, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1河北北方学院附属第一医院妇产科，河北张家口 075000)])]), Author(id=1194661956066972274, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=1, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661956138275444, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956066972274, language=EN, stringName=Ya-Li Li, firstName=Ya-Li, middleName=null, lastName=Li, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=2, address=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661956226355829, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956066972274, language=CN, stringName=李亚丽, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=2, address=2河北省人民医院生殖遗传科，河北石家庄 050051, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955630764641, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=2, ext=[AuthorCompanyExt(id=1194661955639153250, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China), AuthorCompanyExt(id=1194661955647541859, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2河北省人民医院生殖遗传科，河北石家庄 050051)])]), Author(id=1194661956289270391, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=2, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661956347990649, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956289270391, language=EN, stringName=Kun Li, firstName=Kun, middleName=null, lastName=Li, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=3, address=3Department of Pathology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661956427682426, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956289270391, language=CN, stringName=李坤, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=3, address=3河北北方学院附属第一医院病理科，河北张家口 075000, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955706262116, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=3, ext=[AuthorCompanyExt(id=1194661955710456421, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955706262116, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3Department of Pathology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955723039334, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955706262116, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3河北北方学院附属第一医院病理科，河北张家口 075000)])]), Author(id=1194661956482208380, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=3, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661956540928638, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956482208380, language=EN, stringName=Fan Zhang, firstName=Fan, middleName=null, lastName=Zhang, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=3, address=3Department of Pathology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661956616426111, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956482208380, language=CN, stringName=张凡, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=3, address=3河北北方学院附属第一医院病理科，河北张家口 075000, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955706262116, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=3, ext=[AuthorCompanyExt(id=1194661955710456421, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955706262116, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3Department of Pathology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955723039334, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955706262116, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3河北北方学院附属第一医院病理科，河北张家口 075000)])]), Author(id=1194661956679340673, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=4, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661956746449539, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956679340673, language=EN, stringName=Li-Min Rong, firstName=Li-Min, middleName=null, lastName=Rong, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=2, address=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661956809364100, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661956679340673, language=CN, stringName=戎立敏, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=2, address=2河北省人民医院生殖遗传科，河北石家庄 050051, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955630764641, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=2, ext=[AuthorCompanyExt(id=1194661955639153250, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China), AuthorCompanyExt(id=1194661955647541859, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2河北省人民医院生殖遗传科，河北石家庄 050051)])]), Author(id=1194661957870523014, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=5, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661957962797704, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661957870523014, language=EN, stringName=Xiao-Ping Yu, firstName=Xiao-Ping, middleName=null, lastName=Yu, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=2, address=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661958046683785, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661957870523014, language=CN, stringName=余小平, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=2, address=2河北省人民医院生殖遗传科，河北石家庄 050051, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955630764641, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=2, ext=[AuthorCompanyExt(id=1194661955639153250, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China), AuthorCompanyExt(id=1194661955647541859, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2河北省人民医院生殖遗传科，河北石家庄 050051)])]), Author(id=1194661958117986955, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=6, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661958193484429, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661958117986955, language=EN, stringName=Jun Gu, firstName=Jun, middleName=null, lastName=Gu, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=4, address=4Department of Endocrinology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661958252204686, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661958117986955, language=CN, stringName=谷君, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=4, address=4河北北方学院附属第一医院内分泌科，河北张家口 075000, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955773370984, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=4, ext=[AuthorCompanyExt(id=1194661955781759593, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955773370984, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=4Department of Endocrinology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955790148202, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955773370984, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=4河北北方学院附属第一医院内分泌科，河北张家口 075000)])]), Author(id=1194661958315119248, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=7, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661958386422418, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661958315119248, language=EN, stringName=Yan-Hua Kang, firstName=Yan-Hua, middleName=null, lastName=Kang, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=1, address=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661958453531283, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661958315119248, language=CN, stringName=康燕华, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=1, address=1河北北方学院附属第一医院妇产科，河北张家口 075000, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955551072862, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=1, ext=[AuthorCompanyExt(id=1194661955555267167, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955567850080, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1河北北方学院附属第一医院妇产科，河北张家口 075000)])]), Author(id=1194661958520640149, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, orderNo=8, firstName=null, middleName=null, lastName=null, nameCn=null, orcid=null, stid=null, country=null, authorPic=null, dead=0, email=null, emailSecond=null, emailThird=null, correspondingAuthor=0, authorType=1, ext={EN=AuthorExt(id=1194661958591943319, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661958520640149, language=EN, stringName=Ying He, firstName=Ying, middleName=null, lastName=He, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=1, address=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null), CN=AuthorExt(id=1194661958646469272, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, authorId=1194661958520640149, language=CN, stringName=贺英, firstName=null, middleName=null, lastName=null, prefix=null, suffix=null, authorComment=null, nameInitials=null, affiliation=null, department=null, xref=1, address=1河北北方学院附属第一医院妇产科，河北张家口 075000, bio=null, bioImg=null, bioContent=null, aboutCorrespAuthor=null)}, companyList=[AuthorCompany(id=1194661955551072862, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=1, ext=[AuthorCompanyExt(id=1194661955555267167, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955567850080, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1河北北方学院附属第一医院妇产科，河北张家口 075000)])])], keywords=[Keyword(id=1194661958780687001, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, orderNo=1, keyword=sex development disorder), Keyword(id=1194661958864573082, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, orderNo=2, keyword=chromosome mosaicism), Keyword(id=1194661958931681947, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, orderNo=3, keyword=gonadal tumor), Keyword(id=1194661958986207900, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, orderNo=4, keyword=anti-Müllerian hormone(AMH)), Keyword(id=1194661959049122461, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, orderNo=5, keyword=mosaic), Keyword(id=1194661959107842718, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, orderNo=1, keyword=性发育异常), Keyword(id=1194661959166562975, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, orderNo=2, keyword=染色体嵌合型), Keyword(id=1194661959229477536, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, orderNo=3, keyword=性腺肿瘤), Keyword(id=1194661959292392097, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, orderNo=4, keyword=抗米勒管激素), Keyword(id=1194661959351112354, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, orderNo=5, keyword=嵌合)], refs=[Reference(id=1194661960550683313, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2024, volume=49, issue=5, pageStart=495, pageEnd=503, url=null, language=null, rfNumber=[1], rfOrder=0, authorNames=吴柳娇, 靳婵婵, 朱姝, journalName=解放军医学杂志, refType=null, unstructuredReference=吴柳娇, 靳婵婵, 朱姝, 等. 全外显子组测序对性发育异常患者的分子遗传学病因分析[J]. 解放军医学杂志, 2024, 49(5): 495-503., articleTitle=全外显子组测序对性发育异常患者的分子遗传学病因分析, refAbstract=null), Reference(id=1194661960605209266, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2024, volume=30, issue=1, pageStart=83, pageEnd=95, url=null, language=null, rfNumber=[2], rfOrder=1, authorNames=中华医学会男科学分会, XY性发育异常基因诊断专家共识编写组, 刘国昌, journalName=中华男科学杂志, refType=null, unstructuredReference=中华医学会男科学分会, XY性发育异常基因诊断专家共识编写组, 刘国昌. 46,XY性发育异常基因诊断专家共识[J]. 中华男科学杂志, 2024, 30(1): 83-95., articleTitle=46,XY性发育异常基因诊断专家共识, refAbstract=null), Reference(id=1194661960672318131, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2015, volume=null, issue=null, pageStart=383, pageEnd=384, url=null, language=null, rfNumber=[3], rfOrder=2, authorNames=李旭, 徐丛剑, journalName=女性生殖系统疾病, refType=null, unstructuredReference=李旭, 徐丛剑. 女性生殖系统疾病[M]. 北京: 人民卫生出版社, 2015: 383-384., articleTitle=null, refAbstract=null), Reference(id=1194661960731038388, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2020, volume=137, issue=null, pageStart=157, pageEnd=160, url=null, language=null, rfNumber=[4], rfOrder=3, authorNames=Matsumoto F, Matsuyama S, Matsui F, journalName=Urology, refType=null, unstructuredReference=Matsumoto F, Matsuyama S, Matsui F, et al. Variation of gonadal dysgenesis and tumor risk in patients with 45,X/46,XY mosaicism[J]. Urology, 2020, 137: 157-160., articleTitle=Variation of gonadal dysgenesis and tumor risk in patients with 45,X/46,XY mosaicism, refAbstract=null), Reference(id=1194661960793952949, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2021, volume=41, issue=11, pageStart=1417, pageEnd=1424, url=null, language=null, rfNumber=[5], rfOrder=4, authorNames=陈秀丽, 吴海瑛, 付明翠, journalName=上海交通大学学报(医学版), refType=null, unstructuredReference=陈秀丽, 吴海瑛, 付明翠, 等. 23例45,X/46,XY性染色体嵌合患儿临床表现分析[J]. 上海交通大学学报(医学版), 2021, 41(11): 1417-1424., articleTitle=23例45,X/46,XY性染色体嵌合患儿临床表现分析, refAbstract=null), Reference(id=1194661960856867510, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2021, volume=18, issue=3, pageStart=917, pageEnd=null, url=null, language=null, rfNumber=[6], rfOrder=5, authorNames=Debo B, van Loocke M, de Groote K, journalName=Int J Environ Res Public Health, refType=null, unstructuredReference=Debo B, van Loocke M, de Groote K, et al. Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line[J]. Int J Environ Res Public Health, 2021, 18(3): 917., articleTitle=Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line, refAbstract=null), Reference(id=1194661960928170679, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2021, volume=36, issue=8, pageStart=584, pageEnd=588, url=null, language=null, rfNumber=[7], rfOrder=6, authorNames=帅霞, 杨利, 吴文波, journalName=中华实用儿科临床杂志, refType=null, unstructuredReference=帅霞, 杨利, 吴文波, 等. 45,X/46,XY嵌合体性腺表型与分子生物学分析[J]. 中华实用儿科临床杂志, 2021, 36(8): 584-588., articleTitle=45,X/46,XY嵌合体性腺表型与分子生物学分析, refAbstract=null), Reference(id=1194661960986890936, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2021, volume=50, issue=10, pageStart=1145, pageEnd=1150, url=null, language=null, rfNumber=[8], rfOrder=7, authorNames=牛会林, 伊鹏, 高秋, journalName=中华病理学杂志, refType=null, unstructuredReference=牛会林, 伊鹏, 高秋, 等. 儿童性发育异常性腺肿瘤相关性病变12例临床病理分析[J]. 中华病理学杂志, 2021, 50(10): 1145-1150., articleTitle=儿童性发育异常性腺肿瘤相关性病变12例临床病理分析, refAbstract=null), Reference(id=1194661961041416889, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2022, volume=57, issue=7, pageStart=1398, pageEnd=1403, url=null, language=null, rfNumber=[9], rfOrder=8, authorNames=Wong YS, Pang KKY, Tam YH, journalName=J Pediatr Surg, refType=null, unstructuredReference=Wong YS, Pang KKY, Tam YH. Surgery in Chinese children affected by 45,X/46,XY disorders of sex development: a 20-year experience in a single center[J]. J Pediatr Surg, 2022, 57(7): 1398-1403., articleTitle=Surgery in Chinese children affected by 45,X/46,XY disorders of sex development: a 20-year experience in a single center, refAbstract=null), Reference(id=1194661961112720058, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2022, volume=68, issue=4, pageStart=247, pageEnd=257, url=null, language=null, rfNumber=[10], rfOrder=9, authorNames=Vogt PH, Besikoglu B, Bettendorf M, journalName=Syst Biol Reprod Med, refType=null, unstructuredReference=Vogt PH, Besikoglu B, Bettendorf M, et al. Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46, XY cells: distinct gender phenotypes and germ cell tumour risks[J]. Syst Biol Reprod Med, 2022, 68(4): 247-257., articleTitle=Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46, XY cells: distinct gender phenotypes and germ cell tumour risks, refAbstract=null), Reference(id=1194661961175634619, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2022, volume=187, issue=6, pageStart=873, pageEnd=881, url=null, language=null, rfNumber=[11], rfOrder=10, authorNames=Karila D, Donadille B, Léger J, journalName=Eur J Endocrinol, refType=null, unstructuredReference=Karila D, Donadille B, Léger J, et al. Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype[J]. Eur J Endocrinol, 2022, 187(6): 873-881., articleTitle=Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype, refAbstract=null), Reference(id=1194661961246937788, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2023, volume=11, issue=null, pageStart=1135776, pageEnd=null, url=null, language=null, rfNumber=[12], rfOrder=11, authorNames=Yang J, Li Y, Li P, journalName=Front Pediatr, refType=null, unstructuredReference=Yang J, Li Y, Li P. Clinical and hormonal characteristics and growth data of 45 X/46,XY mosaicism in 38 Chinese patients[J]. Front Pediatr, 2023, 11: 1135776., articleTitle=Clinical and hormonal characteristics and growth data of 45 X/46,XY mosaicism in 38 Chinese patients, refAbstract=null), Reference(id=1194661961339212477, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2024, volume=62, issue=2, pageStart=165, pageEnd=169, url=null, language=null, rfNumber=[13], rfOrder=12, authorNames=夏俊珂, 陈晨, 侯雅勤, journalName=中华儿科杂志, refType=null, unstructuredReference=夏俊珂, 陈晨, 侯雅勤, 等. 45,X/46,XY嵌合体患儿的临床特点和Y染色体异常[J]. 中华儿科杂志, 2024, 62(2): 165-169., articleTitle=45,X/46,XY嵌合体患儿的临床特点和Y染色体异常, refAbstract=null), Reference(id=1194661962400371390, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2024, volume=194, issue=3, pageStart=null, pageEnd=null, url=null, language=null, rfNumber=[14], rfOrder=13, authorNames=Alkhunaizi E, Albrecht JP, Aarabi M, journalName=Am J Med Genet A, refType=null, unstructuredReference=Alkhunaizi E, Albrecht JP, Aarabi M, et al. 45,X/46,XY mosaicism: clinical manifestations and long term follow-up[J]. Am J Med Genet A, 2024, 194(3): e63451., articleTitle=45,X/46,XY mosaicism: clinical manifestations and long term follow-up, refAbstract=null), Reference(id=1194661962475868863, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2024, volume=20, issue=4, pageStart=696, pageEnd=702, url=null, language=null, rfNumber=[15], rfOrder=14, authorNames=Peng LC, Chen YF, Hu JJ, journalName=J Pediatr Urol, refType=null, unstructuredReference=Peng LC, Chen YF, Hu JJ, et al. Clinical characteristics and surgical treatment of children with 45,X/46,XY differences of sex development[J]. J Pediatr Urol, 2024, 20(4): 696-702., articleTitle=Clinical characteristics and surgical treatment of children with 45,X/46,XY differences of sex development, refAbstract=null), Reference(id=1194661962547172032, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2024, volume=26, issue=1, pageStart=100987, pageEnd=null, url=null, language=null, rfNumber=[16], rfOrder=15, authorNames=Stochholm K, Holmgård C, Davis SM, journalName=Genet Med, refType=null, unstructuredReference=Stochholm K, Holmgård C, Davis SM, et al. Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: a population-based registry study[J]. Genet Med, 2024, 26(1): 100987., articleTitle=Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: a population-based registry study, refAbstract=null), Reference(id=1194661962610086593, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2020, volume=41, issue=2, pageStart=49, pageEnd=54, url=null, language=null, rfNumber=[17], rfOrder=16, authorNames=何人可, 刘廷辉, 陈俊瑶, journalName=西北民族大学学报(自然科学版), refType=null, unstructuredReference=何人可, 刘廷辉, 陈俊瑶, 等. 男性AMH溯源及其评估性腺功能与发育异常方面的应用进展[J]. 西北民族大学学报(自然科学版), 2020, 41(2): 49-54., articleTitle=男性AMH溯源及其评估性腺功能与发育异常方面的应用进展, refAbstract=null), Reference(id=1194661962681389762, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2020, volume=12, issue=3, pageStart=23, pageEnd=30, url=null, language=null, rfNumber=[18], rfOrder=17, authorNames=邓姗, 田秦杰, journalName=中国计划生育和妇产科, refType=null, unstructuredReference=邓姗, 田秦杰. 性发育异常的诊治要点及现状[J]. 中国计划生育和妇产科, 2020, 12(3): 23-30., articleTitle=性发育异常的诊治要点及现状, refAbstract=null), Reference(id=1194661962740110019, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2019, volume=40, issue=4, pageStart=289, pageEnd=297, url=null, language=null, rfNumber=[19], rfOrder=18, authorNames=中华医学会小儿外科学分会泌尿外科学组, journalName=中华小儿外科杂志, refType=null, unstructuredReference=中华医学会小儿外科学分会泌尿外科学组. 性别发育异常中国专家诊疗共识[J]. 中华小儿外科杂志, 2019, 40(4): 289-297., articleTitle=性别发育异常中国专家诊疗共识, refAbstract=null), Reference(id=1194661962811413188, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2019, volume=57, issue=6, pageStart=410, pageEnd=418, url=null, language=null, rfNumber=[20], rfOrder=19, authorNames=中华医学会儿科学分会内分泌遗传代谢学组, journalName=中华儿科杂志, refType=null, unstructuredReference=中华医学会儿科学分会内分泌遗传代谢学组. 性发育异常的儿科内分泌诊断与治疗共识[J]. 中华儿科杂志, 2019, 57(6): 410-418., articleTitle=性发育异常的儿科内分泌诊断与治疗共识, refAbstract=null), Reference(id=1194661962878522053, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2016, volume=41, issue=1, pageStart=62, pageEnd=66, url=null, language=null, rfNumber=[21], rfOrder=20, authorNames=陈光, 杨国庆, 谷伟军, journalName=解放军医学杂志, refType=null, unstructuredReference=陈光, 杨国庆, 谷伟军, 等. 国内外45,X/46,XY混合型性腺发育不全患者临床特征的比较分析[J]. 解放军医学杂志, 2016, 41(1): 62-66., articleTitle=国内外45,X/46,XY混合型性腺发育不全患者临床特征的比较分析, refAbstract=null), Reference(id=1194661962937242310, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2020, volume=27, issue=6, pageStart=22, pageEnd=25, 31, url=null, language=null, rfNumber=[22], rfOrder=21, authorNames=杨雨阳, 余鹏, 谢德高, journalName=中国当代医药, refType=null, unstructuredReference=杨雨阳, 余鹏, 谢德高, 等. 抗苗勒管激素与男性不育疾病相关性的研究进展[J]. 中国当代医药, 2020, 27(6): 22-25, 31., articleTitle=抗苗勒管激素与男性不育疾病相关性的研究进展, refAbstract=null), Reference(id=1194661963025322695, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2011, volume=40, issue=1, pageStart=77, pageEnd=80, url=null, language=null, rfNumber=[23], rfOrder=22, authorNames=Loriaux A, Boulet S, Delorme V, journalName=J Gynecol Obstet Biol Reprod, refType=null, unstructuredReference=Loriaux A, Boulet S, Delorme V, et al. Tetragametic chimerism: case report[J]. J Gynecol Obstet Biol Reprod, 2011, 40(1): 77-80., articleTitle=Tetragametic chimerism: case report, refAbstract=null), Reference(id=1194661963088237256, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2019, volume=51, issue=7, pageStart=null, pageEnd=null, url=null, language=null, rfNumber=[24], rfOrder=23, authorNames=Magharehabed M, Almadani N, Askari M, journalName=Andrologia, refType=null, unstructuredReference=Magharehabed M, Almadani N, Askari M, et al. Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism[J]. Andrologia, 2019, 51(7): e13290., articleTitle=Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism, refAbstract=null), Reference(id=1194661963159540425, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2020, volume=36, issue=3, pageStart=423, pageEnd=426, url=null, language=null, rfNumber=[25], rfOrder=24, authorNames=刘志勇, 任贺, 李雪, journalName=法医学杂志, refType=null, unstructuredReference=刘志勇, 任贺, 李雪, 等. 两种异源嵌合体亲子鉴定2例[J]. 法医学杂志, 2020, 36(3): 423-426., articleTitle=两种异源嵌合体亲子鉴定2例, refAbstract=null), Reference(id=1194661963218260682, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2022, volume=162, issue=7, pageStart=378, pageEnd=385, url=null, language=null, rfNumber=[26], rfOrder=25, authorNames=Wimmer R, Neumann U, Weber A, journalName=Cytogenet Genome Res, refType=null, unstructuredReference=Wimmer R, Neumann U, Weber A, et al. Intersexual twins due to tetragametic chimerism[J]. Cytogenet Genome Res, 2022, 162(7): 378-385., articleTitle=Intersexual twins due to tetragametic chimerism, refAbstract=null), Reference(id=1194661963281175243, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2020, volume=29, issue=5, pageStart=684, pageEnd=688, url=null, language=null, rfNumber=[27], rfOrder=26, authorNames=戴旭, 贾苗苗, 柏海燕, journalName=生殖医学杂志, refType=null, unstructuredReference=戴旭, 贾苗苗, 柏海燕. 胚胎嵌合的发生机制及结局[J]. 生殖医学杂志, 2020, 29(5): 684-688., articleTitle=胚胎嵌合的发生机制及结局, refAbstract=null), Reference(id=1194661963344089804, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2021, volume=115, issue=5, pageStart=1280, pageEnd=1287, url=null, language=null, rfNumber=[28], rfOrder=27, authorNames=Nadesapillai S, van der Velden J, Smeets D, journalName=Fertil Steril, refType=null, unstructuredReference=Nadesapillai S, van der Velden J, Smeets D, et al. Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary[J]. Fertil Steril, 2021, 115(5): 1280-1287., articleTitle=Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary, refAbstract=null), Reference(id=1194661963402810061, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, doi=null, pmid=null, pmcid=null, year=2022, volume=18, issue=8, pageStart=null, pageEnd=null, url=null, language=null, rfNumber=[29], rfOrder=28, authorNames=Ren Y, Yan Z, Yang M, journalName=PLoS Genet, refType=null, unstructuredReference=Ren Y, Yan Z, Yang M, et al. Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing[J]. PLoS Genet, 2022, 18(8): e1010310., articleTitle=Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing, refAbstract=null)], funds=null, companyList=[AuthorCompany(id=1194661955551072862, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=1, ext=[AuthorCompanyExt(id=1194661955555267167, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955567850080, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955551072862, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=1河北北方学院附属第一医院妇产科，河北张家口 075000)]), AuthorCompany(id=1194661955630764641, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=2, ext=[AuthorCompanyExt(id=1194661955639153250, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China), AuthorCompanyExt(id=1194661955647541859, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955630764641, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=2河北省人民医院生殖遗传科，河北石家庄 050051)]), AuthorCompany(id=1194661955706262116, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=3, ext=[AuthorCompanyExt(id=1194661955710456421, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955706262116, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3Department of Pathology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955723039334, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955706262116, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=3河北北方学院附属第一医院病理科，河北张家口 075000)]), AuthorCompany(id=1194661955773370984, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, xref=4, ext=[AuthorCompanyExt(id=1194661955781759593, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955773370984, language=EN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=4Department of Endocrinology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China), AuthorCompanyExt(id=1194661955790148202, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, companyId=1194661955773370984, language=CN, country=null, province=null, city=null, postcode=null, companyName=null, departmentName=null, remark=4河北北方学院附属第一医院内分泌科，河北张家口 075000)])], figs=[ArticleFig(id=1194661959510495907, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Fig.1, caption=The 45,X/46,XY patient's gland (A) and vulva (B), figureFileSmall=UI1CCQp01W8hXqEomUZeYw==, figureFileBig=EhZFFWFr+Huv4igwttOaow==, tableContent=null), ArticleFig(id=1194661959569216164, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=图1, caption=本例45,X/46,XY患者的乳腺(A)及外阴(B), figureFileSmall=UI1CCQp01W8hXqEomUZeYw==, figureFileBig=EhZFFWFr+Huv4igwttOaow==, tableContent=null), ArticleFig(id=1194661959665685157, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Fig.2, caption=Verification of the pathogenicity of the gene test of the 45,X/46,XY patient, figureFileSmall=TG8vgvW8OmQzpba6yLbn+Q==, figureFileBig=w+EhWaoBMfM+JB11GNsbhg==, tableContent=null), ArticleFig(id=1194661959724405414, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=图2, caption=本例45,X/46,XY患者基因检测致病性的验证

chr. 染色体；红色圈处提示患者X和Y染色体与标准参照比值的差异

, figureFileSmall=TG8vgvW8OmQzpba6yLbn+Q==, figureFileBig=w+EhWaoBMfM+JB11GNsbhg==, tableContent=null), ArticleFig(id=1194661959783125671, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Fig.3, caption=Images of hysteroscopy (A) and laparoscopy (B) of the 45,X/46,XY patient, figureFileSmall=IgUtdclY9/oHQfeZCnAvRw==, figureFileBig=uZ80yOXS/o+z58yPCRNMQw==, tableContent=null), ArticleFig(id=1194661959841845928, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=图3, caption=本例45,X/46,XY患者宫腔镜(A)、腹腔镜(B)下图像

A. 宫腔；B. 盆腔前部的子宫、输卵管、性腺

, figureFileSmall=IgUtdclY9/oHQfeZCnAvRw==, figureFileBig=uZ80yOXS/o+z58yPCRNMQw==, tableContent=null), ArticleFig(id=1194661959904760489, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Fig.4, caption=Pathological images of gonadal tumor of the 45,X/46,XY patient (HE ×200), figureFileSmall=UC56g7kXiVkUo3pKW4/Fbg==, figureFileBig=VEGG/9CoZ9Op9fPmDD/L4g==, tableContent=null), ArticleFig(id=1194661959976063658, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=图4, caption=本例45,X/46,XY患者性腺肿瘤的病理图像(HE ×200)

A. 性腺母细胞瘤(箭头示瘤体)；B. 无性细胞瘤

, figureFileSmall=UC56g7kXiVkUo3pKW4/Fbg==, figureFileBig=VEGG/9CoZ9Op9fPmDD/L4g==, tableContent=null), ArticleFig(id=1194661960043172523, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Fig.5, caption=Peripheral blood chromosome karyotype pattern of the 45,X/46,XY patient, figureFileSmall=xDykOvCqB3P4Y5kCwRpaNA==, figureFileBig=3apbogDstZFrR9htXqo/Rg==, tableContent=null), ArticleFig(id=1194661960106087084, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=图5, caption=本例45,X/46,XY患者外周血染色体嵌合图样, figureFileSmall=xDykOvCqB3P4Y5kCwRpaNA==, figureFileBig=3apbogDstZFrR9htXqo/Rg==, tableContent=null), ArticleFig(id=1194661960169001645, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Fig.6, caption=Fluorescence imaging of pathological tissue of gonads labeled by XY probe in the 45,X/46,XY patient (×400), figureFileSmall=celcdX7O0TXVIhId8dFLDA==, figureFileBig=/6zFiR+IwLrl/4zDDjwcsg==, tableContent=null), ArticleFig(id=1194661960236110510, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=图6, caption=本例45,X/46,XY患者XY探针标记性腺病理组织荧光显影(×400)

Y为红色探针；X为绿色探针；A. 无性细胞瘤；B. 附睾样结构区域

, figureFileSmall=celcdX7O0TXVIhId8dFLDA==, figureFileBig=/6zFiR+IwLrl/4zDDjwcsg==, tableContent=null), ArticleFig(id=1194661960299025071, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=EN, label=Tab.1, caption=

Summary of cases published in the cohort study literature with 45,X/46,XY

, figureFileSmall=null, figureFileBig=null, tableContent=
纳入研究 国家区域 时间跨度 病例数 主要内容
Matsumoto等[4] 日本大阪 1996－2017 34 性腺特征与肿瘤风险：性腺肿瘤患病率可能因表型而异，女性表型患者的患病率较高
陈秀丽等[5] 中国苏州 2014－2020 23 临床表现分析
Debo等[6] 比利时根特 2007－2020 21 多学科检测随访：表型谱广泛，有Turner综合征的特征和功能性健康问题
帅霞等[7] 中国江西 2013－2019 30 性腺表型与分子生物学分析
牛会林等[8] 中国广州 2015－2020 5(205例DSD) 儿童DSD性腺肿瘤性病变以生殖细胞肿瘤前体病变为主
Wong等[9] 中国香港 1997－2017 22 单中心20年手术随访：大多数患者受益于及时的性腺手术或生殖器重建
Vogt等[10] 德国海德堡 2015－？ 22 不同性腺表型与生殖细胞肿瘤风险
Karila等[11] 法国巴黎 2019启动 70(法国全境) 一项多中心的Turner综合征的特征45,X/46,XY核型患者性腺母细胞瘤患病率调查
Yang等[12] 中国上海 2010－2020 38 临床、激素特征和生长数据
夏俊珂[13] 中国郑州 2018－2022 16 临床和遗传学特点
Alkhunaizi等[14]

加拿大

美国

1984.1－2019.3

1990.1－2021.5

 100(3个医疗中心) 临床表现和长期随访
Peng等[15] 中国湖南 2011－2021 18 临床特征和手术策略
Stochholm等[16] 丹麦 1960－2019 183 一项45,X/46,XY人群的发病率、患病率、诊断年龄和死亡率的登记研究
), ArticleFig(id=1194661960399688368, tenantId=1146029695717560320, journalId=1189873630562394117, articleId=1194649187255030576, language=CN, label=表1, caption=

45,X/46,XY队列研究的文献列表

, figureFileSmall=null, figureFileBig=null, tableContent=
纳入研究 国家区域 时间跨度 病例数 主要内容
Matsumoto等[4] 日本大阪 1996－2017 34 性腺特征与肿瘤风险：性腺肿瘤患病率可能因表型而异，女性表型患者的患病率较高
陈秀丽等[5] 中国苏州 2014－2020 23 临床表现分析
Debo等[6] 比利时根特 2007－2020 21 多学科检测随访：表型谱广泛，有Turner综合征的特征和功能性健康问题
帅霞等[7] 中国江西 2013－2019 30 性腺表型与分子生物学分析
牛会林等[8] 中国广州 2015－2020 5(205例DSD) 儿童DSD性腺肿瘤性病变以生殖细胞肿瘤前体病变为主
Wong等[9] 中国香港 1997－2017 22 单中心20年手术随访：大多数患者受益于及时的性腺手术或生殖器重建
Vogt等[10] 德国海德堡 2015－？ 22 不同性腺表型与生殖细胞肿瘤风险
Karila等[11] 法国巴黎 2019启动 70(法国全境) 一项多中心的Turner综合征的特征45,X/46,XY核型患者性腺母细胞瘤患病率调查
Yang等[12] 中国上海 2010－2020 38 临床、激素特征和生长数据
夏俊珂[13] 中国郑州 2018－2022 16 临床和遗传学特点
Alkhunaizi等[14]

加拿大

美国

1984.1－2019.3

1990.1－2021.5

 100(3个医疗中心) 临床表现和长期随访
Peng等[15] 中国湖南 2011－2021 18 临床特征和手术策略
Stochholm等[16] 丹麦 1960－2019 183 一项45,X/46,XY人群的发病率、患病率、诊断年龄和死亡率的登记研究
)], attaches=null, journal=Journal(id=1146441329971666965, delFlag=0, nameCn=解放军医学杂志, nameEn=Medical Journal of Chinese People’s Liberation Army, nameHistory1=null, nameHistory2=null, issn=0577-7402, eissn=null, cn=11-1056/R, coden=null, periodic=0, language=CN, oaType=是, ccby=CC BY-NC-ND, superviseOffice=null, ownerOffice=null, pubOffice=null, editorOffice=null, officeType=null, aims=null, clcCode=null, officeProv=null, officeCity=null, officeAddr=null, officeZip=null, officeEmail=null, officePhone=null, editDirector=null, officeDirector=null, officeDirectorPhone=null, officeStaffNum=null, officeEmpNum=null, coverPicUrl=6srot5PcoYX30Oa4xeTmeg==, journalPrice=null, startedYear=null, abbrevIsoEn=null, journalRemark=null, publicationField=null, createdTime=1751262512917, updatedTime=1761735725513, createdBy=18614031015, updatedBy=13701087609, firstLetterCn=M, firstLetterEn=M, subjectCode=Life Sciences, subjectName=Life Sciences, subjectCodeEn=Life Sciences, subjectNameEn=null, picCn=6srot5PcoYX30Oa4xeTmeg==, picEn=ELwBh5xqrSTlIs7HmSNt2Q==, jcr=null, cjcr=null, exts=[JournalExt(id=1190369167564968109, language=CN, name=解放军医学杂志, nameHistory1=null, nameHistory2=null, managedBy=, sponsoredBy=, publishedBy=, editorOffice=, officeProv=null, officeCity=null, officeAddr=, officeZip=, editDirector=, officeDirector=null, officePhone=null, coverPicUrl=null, journalRemark=, submitArticleUrl=null, websiteUrl=, createdTime=1761735725537, updatedTime=1761735725537, createdBy=13701087609, updatedBy=13701087609, submissionGuidelinesUrl=, submissionAuthorUrl=#, submissionEditorUrl=#, submissionReviewUrl=#, submissionCeEditorUrl=, submissionAeEditorUrl=, option={"copyright":""}), JournalExt(id=1190369167615299758, language=EN, name=Medical Journal of Chinese People’s Liberation Army, nameHistory1=null, nameHistory2=null, managedBy=, sponsoredBy=, publishedBy=, editorOffice=, officeProv=null, officeCity=null, officeAddr=, officeZip=, editDirector=, officeDirector=null, officePhone=null, coverPicUrl=null, journalRemark=, submitArticleUrl=null, websiteUrl=, createdTime=1761735725549, updatedTime=1761735725549, createdBy=13701087609, updatedBy=13701087609, submissionGuidelinesUrl=, submissionAuthorUrl=#, submissionEditorUrl=#, submissionReviewUrl=#, submissionCeEditorUrl=, submissionAeEditorUrl=, option={"copyright":""})], databaseList=null, tenantJournalId=1189873630562394117, websiteList=[Website(id=1189873845923287108, webName=null, webTitle=null, webDomain=null, webCopyrigh=null, webIpcNo=null, seoTitle=null, seoKeywords=null, seoDescription=null, tenantJournalId=null, journalId=1189873630562394117, journalNameCn=null, journalNameEn=null, grayFlag=null, tenantId=1146029695717560320, platformId=null, journalGroupId=null, journalGroupNameCn=null, journalGroupNameEn=null, type=1, domain=https://castjournals.cast.org.cn/joweb/jfjyxzz/CN, language=CN, createTime=1761617631655, createBy=18614031015, updateTime=1761622010471, updateBy=18614031015, name=解放军医学杂志-中文, tplId=1146099689490845704, title=解放军医学杂志, delFlag=0, indexPage=/home, props=[WebsiteProps(id=1189924939378520839, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=articleTextType, value=kx, createTime=1761629813284, updateTime=1761629813284, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939353355012, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=banner, value=null, createTime=1761629813278, updateTime=1761629813278, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939399492362, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=grayFlag, value=0, createTime=1761629813289, updateTime=1761629813289, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939344966403, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=logo, value=https://castjournals.cast.org.cn/joweb/jfjyxzz/CN/file/pic?fileId=+zXjYVhun8ZOAA6+aKx2hw==, createTime=1761629813276, updateTime=1761629813276, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939412075276, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=minRunFlag, value=0, createTime=1761629813292, updateTime=1761629813292, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939374326534, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=picServerUrl, value=https://castjournals.cast.org.cn/joweb/jfjyxzz/CN/file/pic, createTime=1761629813283, updateTime=1761629813283, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939407880971, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=silenceFlag, value=0, createTime=1761629813291, updateTime=1761629813291, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939361743621, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=staticResourcePath, value=https://castjournals.cast.org.cn/joweb/cast_kjdb_cn_619/, createTime=1761629813280, updateTime=1761629813280, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939386909448, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=themeColor, value=null, createTime=1761629813286, updateTime=1761629813286, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924939395298057, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873845923287108, code=themeStyle, value=null, createTime=1761629813288, updateTime=1761629813288, creator=18614031015, updator=18614031015)]), Website(id=1189873846057504839, webName=null, webTitle=null, webDomain=null, webCopyrigh=null, webIpcNo=null, seoTitle=null, seoKeywords=null, seoDescription=null, tenantJournalId=null, journalId=1189873630562394117, journalNameCn=null, journalNameEn=null, grayFlag=null, tenantId=1146029695717560320, platformId=null, journalGroupId=null, journalGroupNameCn=null, journalGroupNameEn=null, type=1, domain=https://castjournals.cast.org.cn/joweb/jfjyxzz/EN, language=EN, createTime=1761617631687, createBy=18614031015, updateTime=1761622030030, updateBy=18614031015, name=解放军医学杂志-英文, tplId=1146101810881728533, title=Medical Journal of Chinese People’s Liberation Army, delFlag=0, indexPage=/home, props=[WebsiteProps(id=1189924968168223505, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=articleTextType, value=kx, createTime=1761629820148, updateTime=1761629820148, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968147251982, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=banner, value=null, createTime=1761629820143, updateTime=1761629820143, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968185000724, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=grayFlag, value=0, createTime=1761629820152, updateTime=1761629820152, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968138863373, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=logo, value=https://castjournals.cast.org.cn/joweb/jfjyxzz/EN/file/pic?fileId=+zXjYVhun8ZOAA6+aKx2hw==, createTime=1761629820141, updateTime=1761629820141, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968197583638, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=minRunFlag, value=0, createTime=1761629820155, updateTime=1761629820155, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968159834896, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=picServerUrl, value=https://castjournals.cast.org.cn/joweb/jfjyxzz/EN/file/pic, createTime=1761629820146, updateTime=1761629820146, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968193389333, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=silenceFlag, value=0, createTime=1761629820154, updateTime=1761629820154, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968155640591, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=staticResourcePath, value=https://castjournals.cast.org.cn/joweb/cast_kjdb_en_623/, createTime=1761629820145, updateTime=1761629820145, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968172417810, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=themeColor, value=null, createTime=1761629820149, updateTime=1761629820149, creator=18614031015, updator=18614031015), WebsiteProps(id=1189924968180806419, tenantId=1146029695717560320, journalId=null, journalGroupId=null, siteId=1189873846057504839, code=themeStyle, value=null, createTime=1761629820151, updateTime=1761629820151, creator=18614031015, updator=18614031015)])], journalTitle=解放军医学杂志, weixinUrl=null, journalUrl=http://zh.jfjyxzz.org.cn/, iacademicId=null, status=1, seqNo=null, journalTitleEn=Medical Journal of Chinese People’s Liberation Army, journalPhotoCn=6srot5PcoYX30Oa4xeTmeg==, journalPhotoEn=ELwBh5xqrSTlIs7HmSNt2Q==, journalFirstLetter=M, journalRecommend=null, journalNew=null, journalCollection=null, jcrJf=null, cjcrJf=null, jcrJfStr=null, cjcrJfStr=null, submissionFirstDecision=null, sciSubjectClassification=null, casSubjectClassification=null, citeScore=null, totalCitationFrequency=null, icpCode=null, psCode=null, advertisingLicenseCode=null, copyrightInformation=null, country=null, option=, provinceCode=null, provinceName=null, collectFlag=false), detailUrlCn=https://castjournals.cast.org.cn/joweb/jfjyxzz/CN/10.11855/j.issn.0577-7402.1139.2024.1018, detailUrlEn=https://castjournals.cast.org.cn/joweb/jfjyxzz/EN/10.11855/j.issn.0577-7402.1139.2024.1018, pdfUrlCn=https://castjournals.cast.org.cn/joweb/jfjyxzz/CN/PDF/10.11855/j.issn.0577-7402.1139.2024.1018, pdfUrlEn=https://castjournals.cast.org.cn/joweb/jfjyxzz/EN/PDF/10.11855/j.issn.0577-7402.1139.2024.1018, aliStartDate=null, aliEndDate=null, collectionFlag=false, citedCount=null, citedUrl=null, reference=null)
收藏切换
染色体核型与基因检测不符的性发育异常1例报道并文献复习
收藏切换
PDF下载
任雁林 1 , 李亚丽 2 , 李坤 3 , 张凡 3 , 戎立敏 2 , 余小平 2 , 谷君 4 , 康燕华 1 , 贺英 1
解放军医学杂志 | 临床研究 2025,50(1): 50-56
收起
收藏切换
解放军医学杂志 | 临床研究 2025, 50(1): 50-56
染色体核型与基因检测不符的性发育异常1例报道并文献复习
全屏
任雁林1, 李亚丽2, 李坤3, 张凡3, 戎立敏2, 余小平2, 谷君4, 康燕华1, 贺英1
作者信息
  • 1河北北方学院附属第一医院妇产科，河北张家口 075000
  • 2河北省人民医院生殖遗传科，河北石家庄 050051
  • 3河北北方学院附属第一医院病理科，河北张家口 075000
  • 4河北北方学院附属第一医院内分泌科，河北张家口 075000

    • 任雁林，医学硕士，主任医师，主要从事生殖内分泌方面的研究

Sex development disorder with discordant chromosome karyotype and gene detection: a case report and literature review
Yan-Lin Ren1, Ya-Li Li2, Kun Li3, Fan Zhang3, Li-Min Rong2, Xiao-Ping Yu2, Jun Gu4, Yan-Hua Kang1, Ying He1
Affiliations
  • 1Department of Obstetrics and Gynecology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
  • 2Department of Reproductive Genetics, Hebei Provincial People's Hospital, Shijiazhuang, Hebei 050051, China
  • 3Department of Pathology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
  • 4Department of Endocrinology, the First Affiliated Hospital of Hebei North University, Zhangjiakou, Hebei 075000, China
出版时间: 2025-01-28 doi: 10.11855/j.issn.0577-7402.1139.2024.1018
文章导航
收藏切换
摘要
收起

目的 报道1例染色体核型与基因检测结果不符的性发育异常患者的诊治及验证过程，并进行文献复习，以提高对性发育异常嵌合状况的认识。方法 患者，14岁，2020年4月3日因“原发性闭经”就诊于河北北方学院附属第一医院，为女性性征，经超声/磁共振探查性腺、性腺轴功能测定、染色体核型和分子基因检测，以及盆腔探查、恶变性腺切除、激素替代等诊疗，药物性月经来潮。诊疗中发现患者染色体核型分析与分子基因检测结果不符，遂行三胚层细胞分别取样，荧光原位杂交技术(FISH)检测各胚层细胞的性染色体，XY探针标记性腺病理切片探究Y染色体在性腺中的分布差异，并比较手术前后抗米勒管激素(AMH)水平的变化。检索万方、PubMed等数据库，汇总相关的队列研究文献，了解该疾病目前的研究现状。结果 患者体内45,X与46,XY细胞系在不同胚层以及同一胚层发生的组织间的嵌合差异较大。外胚层来源的口腔颊黏膜细胞45,X占比为30.0%(6/20)，中胚层来源的外周血淋巴细胞45,X占比为9.7%(11/114)，内胚层来源的膀胱脱落细胞45,X占比为20.4%(22/108)。XY探针标记的性腺病理切片提示一个减Y的嵌合状态，其中附睾结构区45,X细胞系嵌合占50.0%，恶性区域“Y”含量正常。性腺切除后AMH由7.28 pmol/L降至<0.07 pmol/L。复习文献发现，45,X/46,XY患者表型谱复杂，多数有Turner综合征的特征，女性表型有发生性腺肿瘤的风险。结论 诊断性发育异常的疑难病例行外周血核型检测时须尽量增加计数细胞和分析细胞的数目，并行多胚层细胞取样；“Y”嵌合率高的性腺在腹腔中更易恶变；检测AMH水平可鉴别含Y染色体性发育异常的隐睾和无睾状态。

性发育异常  /  染色体嵌合型  /  性腺肿瘤  /  抗米勒管激素  /  嵌合

Objective To report the diagnosis, treatment, and verification process of a patient with sex development disorder whose chromosomal karyotype and genetic test results are inconsistent, and conduct a literature review to improve the understanding of the mosaic status of sexual development disorders. Methods A 14-year-old patient presented with primary amenorrhea on April 3, 2020, at the First Affiliated Hospital of Hebei North University, exhibiting female sexual characteristics. The patient underwent ultrasonic/magnetic resonance imaging of gonads, assessment of gonadal axis function, chromosomal karyotype, and molecular genetic testing, as well as pelvic exploration, malignant gonads resection, and hormone replacement therapy, resulting in drug-induced menstruation. During the diagnosis and treatment, it was found that the patient's chromosomal karyotype analysis was inconsistent with the molecular genetic test results. Subsequently, samples from the three germ layer cells were taken, and fluorescence in situ hybridization (FISH) was used to detect the sex chromosomes in each germ layer cell. XY probes were used to label the gonadal pathological sections to explore the distribution differences of the Y chromosome in the gonads, and changes in anti-Müllerian hormone (AMH) levels before and after surgery were compared. Databases such as Wanfang and PubMed were searched to summarize relevant cohort study literature and understand the current status of research on this disease. Results The patient's body exhibited a significant differences between the 45,X and 46,XY cell lines in different germ layers and within the same layer tissues. The proportion of 45,X in buccal mucosal cells derived from the ectoderm was 30% (6/20), in peripheral blood lymphocytes derived from the mesoderm was 9.7% (11/114), and in bladder shed cells derived from endoderm was 20.4% (22/108). The gonadal pathological sections labeled with XY probes indicated a mosaic state with a reduced Y-chromosome; where the epididymal structure area had a 45,X cell line mosaic of 50.0%, and the malignant area had a normal "Y" content. After gonadal resection, AMH levels significantly dropped from 7.28 pmol/L to <0.07 pmol/L. Literature review revealed that patients with 45,X/46,XY have a complex phenotype spectrum, most with features of Turner syndrome, and female phenotypes are at risk of gonadal tumors. Conclusions In the diagnosis of difficult cases of sex development disorders, when performing peripheral blood karyotype testing, the number of counted cells and analyzed cells should be increased as much as possible, and multi-germ layer cell sampling should be performed. Gonads with a high "Y" mosaic rate are more prone to malignancy in the abdominal cavity. Detecting AMH levels can distinguish cryptorchidism and anorchidism in sexual development disorders with Y chromosomes.

sex development disorder  /  chromosome mosaicism  /  gonadal tumor  /  anti-Müllerian hormone(AMH)  /  mosaic
任雁林, 李亚丽, 李坤, 张凡, 戎立敏, 余小平, 谷君, 康燕华, 贺英. 染色体核型与基因检测不符的性发育异常1例报道并文献复习. 解放军医学杂志, 2025 , 50 (1) : 50 -56 . DOI: 10.11855/j.issn.0577-7402.1139.2024.1018
Yan-Lin Ren, Ya-Li Li, Kun Li, Fan Zhang, Li-Min Rong, Xiao-Ping Yu, Jun Gu, Yan-Hua Kang, Ying He. Sex development disorder with discordant chromosome karyotype and gene detection: a case report and literature review[J]. Medical Journal of Chinese People’s Liberation Army, 2025 , 50 (1) : 50 -56 . DOI: 10.11855/j.issn.0577-7402.1139.2024.1018
正文
收起
性发育异常(disorders/differences of sex develop-ment，DSD)是一组性染色体、性腺和表型不匹配的先天性疾病，临床少见且表现复杂，诊治决策取决于精准的病因学诊断[1]；其中46,XY DSD是病因最复杂的一类性别决定与分化异常，约占DSD患者的50%，仅通过表型谱、内分泌检测和影像学等的传统手段很难精准诊断[2]。本文报道1例女性第二性征、原发闭经、染色体核型46,XY、基因检测疑似45,X/46,XY的DSD经多学科多家医院联合诊治的案例，并结合文献复习，探究嵌合型人体内“嵌合形式”在不同胚层间以及同一胚层发生的不同组织间的差异，旨在进一步深入认识嵌合型DSD的嵌合状况。
1 病例资料
收起
患者14岁，社会性别女性，因“原发性闭经”于2020年4月3日就诊于河北北方学院附属第一医院。自幼被抱养，出生情况不详，按女孩抚养。无月经来潮，无周期性腹痛。生长发育与同龄女孩同步，智力正常，学习成绩中等。查体：身高155 cm，体重72 kg，体重指数30.0 kg/m2，上下部匀称。皮肤毳毛多，上唇小胡须。双侧乳腺Tanner Ⅲ期(图1A)。外阴Tanner Ⅴ期(图1B)，阴蒂长1 cm、直径1 cm，肛周有阴毛，尿道阴道口分明，细棉棒探阴道深7 cm，肛腹诊扪及小子宫，双侧附件区及腹股沟未触及包块。腔内超声：子宫前位，4.5 cm×2.2 cm×1.1 cm大小，宫壁回声均匀，内膜呈线样，附件区未探及卵巢回声；诊断为幼稚子宫。生殖激素：(1)卵泡刺激素35.36 U/L(参考值：卵泡期3.50~12.50 U/L；排卵期4.70~21.50 U/L；黄体期1.70~7.70 U/L；绝经期25.80~134.80 U/L)；(2)黄体生成素23.83 U/L(参考值：卵泡期2.40~12.60 U/L；排卵期14.00~95.60 U/L；黄体期1.00~11.40 U/L；绝经期7.70~58.50 U/L)；(3)催乳素459.30 mU/L(参考值：非孕期102.00~496.00 mU/L)；(4)雌二醇44.88 pmol/L(参考值：卵泡期45.51~855.11 pmol/L；排卵期150.47~1460.66 pmol/L；黄体期81.84~1251.47 pmol/L；绝经期18.35~506.46 pmol/L)；(5)孕酮0.60 nmol/L(参考值：卵泡期0.18~2.84 nmol/L；排卵期0.38~38.16 nmol/L；黄体期5.82~76.00 nmol/L；绝经期0.16~0.40 nmol/L；孕期34.98~680.52 npmol/L)；(6)睾酮0.12 nmol/L(参考值：女性0.03~0.16 nmol/L，男性0.51~2.09 nmol/L)；(7)抗米勒管激素(anti-Müllerian hormone，AMH)7.28 pmol/L(参考值：11.85~67.76 pmol/L)。外周血淋巴细胞染色体400G显带水平分析，计数20个细胞，分析10个核型，由北京博奥医学检验所检测，结果为46,XY。患者诊断为“46,XY性发育异常”。
2020年5月收入内分泌科，查血常规、生化、甲状腺功能、皮质醇节律、肿瘤标志物正常；垂体MRI未见异常；乳腺超声提示乳腺厚度正常、双侧腋下见淋巴结；腹部盆腔B超及MRI/CT提示肝、胆、胰、脾、肾、肾上腺未见异常，幼稚子宫，未探及性腺；腹股沟、大阴唇区超声未探及睾丸。骨龄测定符合14岁女性表现，无延迟。再次检测生殖激素：卵泡刺激素33.92 U/L、黄体生成素20.33 U/L、雌二醇40.00 pmol/L、孕酮0.99 nmol/L、睾酮0.80 nmol/L，显示性腺呈退化状态。基因检测(由北京迈基诺医学检验所完成)提示，与拷贝数正常的男性对比，Y染色体比值为0.58(图2)，疑似染色体核型45,X/46,XY。
患者自我性别认同为女性，父母希望其日后保持女性社会身份。2021年1月入住妇科，行宫腔镜、腹腔镜探查术。宫腔镜可见阴道黏膜、穹隆、宫颈正常，自宫颈外口向内探及小容量宫腔和输卵管开口(图3A)。腹腔镜探查可见腹腔脏器未见异常；子宫居中于盆腔，体积小，表面光滑；双侧输卵管柔软、细长，贴于盆腔侧壁，伞端延伸至髂窝处，伞端黏膜可见；右侧附件区见一白色性腺，3.0 cm×2.0 cm×1.5 cm大小，旁附着1.5 cm结节；左侧附件区见一白色性腺，2.0 cm×2.0 cm×1.0 cm大小，旁附着1.0 cm结节(图3B)。切除双侧性腺和输卵管，完整取出。病理组织学检查结果示：双侧性腺处于始基状态，镜下呈性腺母细胞瘤结构(图4A)，右侧于性腺母细胞瘤基础上继发无性细胞瘤(图4B)；双侧输卵管发育欠佳，旁偶见附睾样结构。参考专著[3]及多家医院妇瘤科会诊意见，出院诊断为：性发育异常、性腺发育不良、性腺母细胞瘤、无性细胞瘤Ⅰa期，无需放化疗。
术后1个月复查AMH<0.07 pmol/L。给予戊酸雌二醇1 mg隔日口服10个月，患者出现少许血样分泌物。查体：身高158 cm，体重69 kg，体重指数27.6 kg/m2；腔内超声：子宫大小4.0 cm×2.5 cm×1.5 cm，内膜厚4 mm。2022年5月复诊，患者女性性征明显，偶有点滴月经来潮，给予戊酸雌二醇1 mg/d口服，周期性加服黄体酮撤血，定期门诊随访。
针对患者外周血染色体核型与基因检测不符的情况，2023年采集患者外周血、口腔颊黏膜细胞、膀胱脱落细胞送河北省人民医院生殖遗传科进行性染色体检测。实验室报告结果显示：外周血常规培养，共计数114个中期分裂象的淋巴细胞，逐一G显带(320条)分析，结果为45,X(11)/46,XY(103)(图5)；口腔黏膜可计数细胞共有20个，荧光原位杂交(FISH)检测核型为45,X(6)/46,XY(14)；膀胱脱落细胞FISH检测核型为45,X(22)/46,XY(86)。
患者性腺病理蜡块由河北北方学院附属第一医院病理科重新切片，XY染色体计数探针标记，读片计数细胞总体呈现一个减Y的嵌合状况：其中无性细胞瘤区域计数100个细胞，标记XY(96)，XXYY(3)，XXY(1)(图6A)；附睾样结构区域计数100个细胞，标记XY(46)，X(50)，XYY(2)，YY(2)(图6B)。
2 文献复习
收起
以“45,X/46,XY”“45,X/46,XY嵌合体”“45,X/46,XY mosaicism”为关键词在知网、万方数据库、PubMed和Web of Science数据库检索2020年1月－2024年6月相关中英文文献，文献中45,X/46,XY的诊断主要基于核型，参照DSD芝加哥共识分类(2010更新版)。文献大多为个案报道，排除辅助生殖或产前诊断(即未出生的45,X/46,XY)的研究，纳入回顾性/前瞻性队列研究仅13篇[4-16]。详见表1。病例来自中国(7篇)、日本、加拿大、美国、德国、法国、比利时、丹麦，涉及临床调查、性腺病理特征、手术策略、Y染色体结构分析、流行病研究等方面，典型的如法国2019年启动的全境45,X/46,XY罕见病调查[11]。总结纳入的文献发现，从具有典型Turner综合征的女性表型，生殖器模糊的个体，到看似未受影响但不育的男性表型，45,X/46,XY嵌合核型患者的临床表型谱广泛，而表型与潜在的致病机制及受影响的发育阶段有关。近半数患者表现出至少一种Turner综合征特征，生长激素治疗未能使身高明显增高；与男性相比，女性的性腺损伤更为严重，需进行青春期诱导。女性有发生性腺母细胞瘤和无性细胞瘤的风险，发生生殖细胞肿瘤的风险可能与个体Y染色体断裂和(或)重排的位置有关。携带Y染色体物质的女性应行预防性性腺切除术。此外，根据患者的表型制定手术策略，对选定性别的患者进行生殖器重建手术。
3 讨论
收起
3.1 原发闭经的病因器官定位
原发闭经通常按生殖轴定位病变及功能失调的器官。本例发育进程正常，呈女性表型，腔内超声可显示子宫结构，垂体MRI影像未见异常，故可初步排除下丘脑垂体器质或功能异常、生殖道梗阻导致的闭经。生殖激素检测显示，本例存在高促性腺激素、性腺功能减退的状况，AMH为7.28 pmol/L，明显低于同龄女性或男性正常参考值，考虑病因定位在性腺[17]。本例患者的染色体核型为46,XY，与其女性表型性别不匹配，故诊断为DSD。影像学检查虽然未发现性腺，但生殖激素检测显示睾酮水平明显低于同龄男性，提示患者可能是发育不全的睾丸不能合成分泌正常水平雄激素的46,XY DSD，而非雄激素作用障碍的雄激素不敏感综合征或睾酮转化障碍的5α还原酶缺陷症(46,XY DSD中的一种，睾酮水平正常或偏低[18])。
3.2 DSD的基因检测
性别发育包括性染色体的确定、性腺的发育和内外生殖器的发育，任何干扰此过程的因素都可能导致生理层面的DSD。内源性因素包括性腺发育相关基因的异常、类固醇和性激素合成路径中重要酶的异常及各类激素受体的异常，外源性因素包括环境污染、药物、母体因素等[19-20]。文献报道，睾丸发育不良的多数致病原因为SRY、SOX9、WT1、DAX1、DHH等基因突变和拷贝数变异引发的调控失常[2]。本例上述基因检测结果均正常，也未检测到雄激素合成和转化通路酶基因、雄激素受体基因异常，致病验证发现Y染色体含量不够高，疑似45,X/46,XY。后续试验验证发现，外周血存在45,X(11)/46,XY(103)，证实45,X是以9.6%嵌合形式存在于血液中；XY探针标记的性腺切片显示一个减Y的嵌合状态，附睾结构区45,X细胞系嵌合占比50%，故诊断为45,X/46,XY DSD。
3.3 含Y染色体DSD性腺肿瘤的发生风险
本例为45,X/46,XY混合性腺发育不全类型，存在嵌合型Turner和Swyer综合征的特征，文献报道其发病率为1/10 000，性腺组织呈现多样化，包括条索状性腺、发育不良睾丸、卵睾或正常睾丸等[4,21]。根据患者米勒管结构状况推理其发生学过程可能为：原始性腺“Y”含量不足，在胚胎6~8周左右睾丸退化，影响了Leydig细胞(间质细胞)和Sertoli细胞(支持细胞)的数量及功能，Leydig细胞无法分泌雄激素，沃尔夫管退化，男性生殖器形成障碍；Sertoli细胞分泌AMH极少，胚胎10~11周米勒管发育分化为输卵管和子宫。低水平的AMH提示退化的睾丸中Sertoli细胞仍有些许功能，考虑到患者腹腔睾丸青春期后发生性腺母细胞瘤的概率较高，因而及时行腹腔镜手术探查，术中确认性腺并进行预防性切除，对发育尚可的子宫予以保留，便于日后借助赠卵或赠胚的辅助生殖技术获得生育机会。切除的性腺病理学检查结果证实，右侧在性腺母细胞瘤的基础上，生殖细胞侵及性腺基质，已发展为恶性的无性细胞瘤；腹腔镜下完整取出包膜完好的性腺，属无性细胞瘤Ⅰa期[3]。因此该患者启动了内分泌治疗。患者性腺切片中恶性区域“Y”含量正常，为46,XY细胞系，印证并推理“Y”嵌合率高的性腺部分在腹腔中更易恶变。含Y染色体的DSD患者是一类疾病人群，精准的基因诊断可为其性别认定，生育潜能和性腺恶变风险预测，性腺处理以及外生殖器整形方案的制定提供基本依据。
3.4 诊治含Y染色体DSD时AMH检测的意义
患者性腺切除前后AMH水平的变化提示，对于在查体和影像学检查时无法探及性腺的含Y染色体DSD，AMH检测可鉴别隐睾与无睾状态。Sertoli细胞是男性体内分泌AMH的唯一细胞[22]，AMH参与早期性器官的定向分化，且在出生后调节睾丸Leydig细胞的功能。先天性或获得性无睾畸形以及完全性腺发育不全患者无法检测出AMH。低水平的AMH提示原发性睾丸功能障碍，如果常规查体或影像学检查未能探及性腺，应考虑存在腹腔睾丸的可能性，为手术探查的指征。
3.5 染色体嵌合的认识与检验
生物学上的嵌合指在一个生物体内存在两个或多个不同核型的细胞类型，根据细胞系来源不同又分为同源和异源嵌合。同源嵌合体是单个受精卵在胚胎早期有丝分裂时错误形成的不同核型的细胞系发育而成的个体，表现为非整倍体核型或结构异常核型与正常细胞系的嵌合，如45,X/46,XY。异源嵌合指输血或同种异体造血干细胞移植的获得性嵌合、单绒毛膜异卵双胎输血的孪生子异源嵌合[23]，以及由两种及以上不同来源的合子细胞融合发育而成的“奇美拉”个体[24-26]。
目前普遍认同的45,X/46,XY嵌合机制为：在胚胎(单个受精卵)发育早期，部分细胞的有丝分裂过程出现了分裂后期迟滞、Y染色体不分离，产生了3种细胞系(45,X、46,XY和47,XYY)，其中47,XYY三体细胞系在以后的细胞分裂中丢失[27]。患者外周血45X嵌合比例<10%，常规核型分析的实验流程无法获得足够量的中期分裂象淋巴细胞，也就无法发现小比例的嵌合现象。因此，对诊断DSD疑难病例行外周血核型检测时，必须尽量增加计数细胞和分析细胞的数目，以避免漏诊，甚至应检测多胚层的核型，以发现更多的未知情况。
实验验证本例体内45,X与46,XY细胞系在不同胚层以及同一胚层发生的组织间的嵌合差异很大。外胚层口腔颊黏膜细胞45,X占比为30%，中胚层外周血淋巴细胞45,X占比为9.7%，内胚层膀胱脱落细胞45,X占比为20.4%。中胚层的性腺组织切片细胞系总体呈现嵌合状态，非恶变区域45,X细胞系占比50%。患者的女性表型可能与其生殖腺45,X嵌合程度高有关，支持了多数学者认同的“性腺嵌合比例决定外生殖器分化类型”学说。即生殖腺中只存在XX或XY细胞系，为正常的女性或男性表型；若生殖腺中同时存在XX和XY细胞系，因其占比和分布不同，可能呈现生殖器模糊、倾向性表型或真两性畸形。Nadesapillai等[28]报道的嵌合型Turner综合征生育力保存病例也证实，中胚层来源的性腺中卵泡结构和外周血的核型存在差异。嵌合体体内组织间细胞核型嵌合比例存在差异，导致机体不同组织对各类激素或重要酶类的暴露水平不同，因此呈现出多种表型；即使同一类型的染色体嵌合，表型谱也存在差异。每一例嵌合体的表型均是其多重基因调控、基因剂量效应、受体效应、广谱和时间效应的复合结果。本例患者性腺内Y染色体含量减半，性腺决定分化基因含量低，受体效应差、时间效应短，使得原始生殖嵴无法向正常睾丸组织分化，因而呈现出去男性化的表型。
综上所述，本研究发现，本例45,X/46,XY DSD患者染色体核型与基因检测不符与其外周血45,X细胞系小比例嵌合致检测误差有关；体内45,X与46,XY细胞系在不同胚层以及同一胚层发生的不同组织间的嵌合比例存在显著差异。目前，嵌合差异的机制尚不清楚，可能与胚胎发育期有丝分裂发生错误的时间点不同有关，也可能是两个细胞系体外生长的差异所致。有研究发现，随着时间延长，45,X细胞系数量会减少[29]。目前，尚不清楚嵌合差异的分布是否存在规律，以及规律性如何，未来或许可结合人工智能技术扩大样本量来发掘其规律，并从辅助生殖的胚胎发育监测中发现一些胚胎早期的嵌合差异机制。随着遗传基因检测技术的进步以及各类检测方法的有效运用，正常人群中会有更多的隐性嵌合被发现。
文献
收起
参考文献 引证文献
排序方式：
[1]
吴柳娇, 靳婵婵, 朱姝, 等. 全外显子组测序对性发育异常患者的分子遗传学病因分析[J]. 解放军医学杂志, 2024, 49(5): 495-503.
[2]
中华医学会男科学分会, XY性发育异常基因诊断专家共识编写组, 刘国昌. 46,XY性发育异常基因诊断专家共识[J]. 中华男科学杂志, 2024, 30(1): 83-95.
[3]
李旭, 徐丛剑. 女性生殖系统疾病[M]. 北京: 人民卫生出版社, 2015: 383-384.
[4]
Matsumoto F, Matsuyama S, Matsui F, et al. Variation of gonadal dysgenesis and tumor risk in patients with 45,X/46,XY mosaicism[J]. Urology, 2020, 137: 157-160.
[5]
陈秀丽, 吴海瑛, 付明翠, 等. 23例45,X/46,XY性染色体嵌合患儿临床表现分析[J]. 上海交通大学学报(医学版), 2021, 41(11): 1417-1424.
[6]
Debo B, van Loocke M, de Groote K, et al. Multidisciplinary approach to the child with sex chromosomal mosaicism including a Y-containing cell line[J]. Int J Environ Res Public Health, 2021, 18(3): 917.
[7]
帅霞, 杨利, 吴文波, 等. 45,X/46,XY嵌合体性腺表型与分子生物学分析[J]. 中华实用儿科临床杂志, 2021, 36(8): 584-588.
[8]
牛会林, 伊鹏, 高秋, 等. 儿童性发育异常性腺肿瘤相关性病变12例临床病理分析[J]. 中华病理学杂志, 2021, 50(10): 1145-1150.
[9]
Wong YS, Pang KKY, Tam YH. Surgery in Chinese children affected by 45,X/46,XY disorders of sex development: a 20-year experience in a single center[J]. J Pediatr Surg, 2022, 57(7): 1398-1403.
[10]
Vogt PH, Besikoglu B, Bettendorf M, et al. Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46, XY cells: distinct gender phenotypes and germ cell tumour risks[J]. Syst Biol Reprod Med, 2022, 68(4): 247-257.
[11]
Karila D, Donadille B, Léger J, et al. Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype[J]. Eur J Endocrinol, 2022, 187(6): 873-881.
[12]
Yang J, Li Y, Li P. Clinical and hormonal characteristics and growth data of 45 X/46,XY mosaicism in 38 Chinese patients[J]. Front Pediatr, 2023, 11: 1135776.
[13]
夏俊珂, 陈晨, 侯雅勤, 等. 45,X/46,XY嵌合体患儿的临床特点和Y染色体异常[J]. 中华儿科杂志, 2024, 62(2): 165-169.
[14]
Alkhunaizi E, Albrecht JP, Aarabi M, et al. 45,X/46,XY mosaicism: clinical manifestations and long term follow-up[J]. Am J Med Genet A, 2024, 194(3): e63451.
[15]
Peng LC, Chen YF, Hu JJ, et al. Clinical characteristics and surgical treatment of children with 45,X/46,XY differences of sex development[J]. J Pediatr Urol, 2024, 20(4): 696-702.
[16]
Stochholm K, Holmgård C, Davis SM, et al. Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: a population-based registry study[J]. Genet Med, 2024, 26(1): 100987.
[17]
何人可, 刘廷辉, 陈俊瑶, 等. 男性AMH溯源及其评估性腺功能与发育异常方面的应用进展[J]. 西北民族大学学报(自然科学版), 2020, 41(2): 49-54.
[18]
邓姗, 田秦杰. 性发育异常的诊治要点及现状[J]. 中国计划生育和妇产科, 2020, 12(3): 23-30.
[19]
中华医学会小儿外科学分会泌尿外科学组. 性别发育异常中国专家诊疗共识[J]. 中华小儿外科杂志, 2019, 40(4): 289-297.
[20]
中华医学会儿科学分会内分泌遗传代谢学组. 性发育异常的儿科内分泌诊断与治疗共识[J]. 中华儿科杂志, 2019, 57(6): 410-418.
[21]
陈光, 杨国庆, 谷伟军, 等. 国内外45,X/46,XY混合型性腺发育不全患者临床特征的比较分析[J]. 解放军医学杂志, 2016, 41(1): 62-66.
[22]
杨雨阳, 余鹏, 谢德高, 等. 抗苗勒管激素与男性不育疾病相关性的研究进展[J]. 中国当代医药, 2020, 27(6): 22-25, 31.
[23]
Loriaux A, Boulet S, Delorme V, et al. Tetragametic chimerism: case report[J]. J Gynecol Obstet Biol Reprod, 2011, 40(1): 77-80.
[24]
Magharehabed M, Almadani N, Askari M, et al. Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism[J]. Andrologia, 2019, 51(7): e13290.
[25]
刘志勇, 任贺, 李雪, 等. 两种异源嵌合体亲子鉴定2例[J]. 法医学杂志, 2020, 36(3): 423-426.
[26]
Wimmer R, Neumann U, Weber A, et al. Intersexual twins due to tetragametic chimerism[J]. Cytogenet Genome Res, 2022, 162(7): 378-385.
[27]
戴旭, 贾苗苗, 柏海燕. 胚胎嵌合的发生机制及结局[J]. 生殖医学杂志, 2020, 29(5): 684-688.
[28]
Nadesapillai S, van der Velden J, Smeets D, et al. Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary[J]. Fertil Steril, 2021, 115(5): 1280-1287.
[29]
Ren Y, Yan Z, Yang M, et al. Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing[J]. PLoS Genet, 2022, 18(8): e1010310.
2025年第50卷第1期
PDF下载
226
93
引用本文
BibTeX
文章信息
doi: 10.11855/j.issn.0577-7402.1139.2024.1018
  • 接收时间：2024-08-01
  • 首发时间：2025-11-10
  • 出版时间：2025-01-28
补充材料
相关文章
文章信息
作者
出版历史
  • 收稿日期：2024-08-01
  • 录用日期：2024-09-08
基金
作者信息
    1河北北方学院附属第一医院妇产科，河北张家口 075000
    2河北省人民医院生殖遗传科，河北石家庄 050051
    3河北北方学院附属第一医院病理科，河北张家口 075000
    4河北北方学院附属第一医院内分泌科，河北张家口 075000
参考文献
分享链接
https://castjournals.cast.org.cn/joweb/jfjyxzz/CN/10.11855/j.issn.0577-7402.1139.2024.1018
分享至
全文二维码

扫描看全文

引用本文
BibTeX
本文的引用情况
2种不同金属材料的力学参数
科
Family		 属数
Number of
genus		 种数
Number of
species		 占总种数比例
Percentage of
total species (%)		 属
Genus		 种数
Number of
species		 占总种数比例
Percentage of total
species (%)
鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78
小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39
多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39
红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87
小菇属 Mycena 11 5.26
光柄菇属 Pluteus 5 2.39
红菇属 Russula 17 8.13
栓菌属 Trametes 5 2.39
关闭全屏
相关链接
论文
最新文章
热读文章
热点专题
内参
蓝皮书
产业发展报告
传播力报告
期刊分级目录
资讯
学术新闻
行业新闻
学术会议
行业会议
关于
关于我们
联系我们
北京市海淀区学院南路86号
100081
010-62199257
qkjq@cast.org.cn

中国科学技术协会版权所有 京ICP 备10216604号-4 海淀分局备案 1101084647
科技导报社主办 中国科协信息中心技术支持