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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.
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| 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 |
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