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目的:探讨46,XX性发育睾丸疾病患者的表型、病因病机及其分子生物学特点。方法:对2例46,XX性发育睾丸疾病患者进行病史采集,盆腔B超扫描,染色体核型分析,PCR扩增法检测SRY、YRRM1、DYS240、DAZ基因。结果:两例患者均表现为小睾丸,无精子,第二性征较差。盆腔B超探查未发现女性内生殖器官。两患者染色体核型均为46,XX,且SRY(+),其中1例YRRM1(+)。结论:对性发育异常患者进行染色体核型分析和SRY基因检测,有利于了解该类患者的遗传学病因,为明确诊断和治疗提供科学依据。
Objective: To investigate the phenotype, etiology, pathogenesis and molecular biology of 46, XX sex development testicular diseases. Methods: Two cases of 46, XX sex development of testicular disease patients were collected history, pelvic ultrasound scan, chromosome karyotype analysis, PCR detection of SRY, YRRM1, DYS240, DAZ gene. Results: The two patients showed small testicles, no sperm, poor secondary sexual characteristics. Pelvic ultrasound B did not find female genital mutilation. The karyotypes of both patients were 46, XX, and SRY (+), including 1 YRRM1 (+). Conclusion: Chromosomal karyotype analysis and SRY gene detection in patients with sexual dysplasia are beneficial to understand the genetic causes of these patients, providing a scientific basis for the diagnosis and treatment.