Granat M, Amar A, Mor-Yosef S, Brautbar C, Schenker J G
Fertil Steril. 1983 Aug;40(2):215-9. doi: 10.1016/s0015-0282(16)47240-7.
Two primary amenorrheic sisters were diagnosed as 46,XX pure gonadal dysgenesis. Their brother, a normal phenotypic and genotypic male, was azoospermic due to primary germinative failure. Parental consanguinity was observed, suggesting an autosomal recessive inheritance. This is the first reported family in which both an otherwise healthy male and two females were affected by gonadal germinative failure. Endocrine studies showed impaired gonadal function in the three affected siblings. The two females with gonadal dysgenesis and the azoospermic male shared one human leukocyte antigen haplotype; the second haplotype, however, was different. The common haplotype was also found in the oligomenorrheic sister whose gonadotropin-releasing hormone test was compatible with normal ovarian function, in the mother, and in one of her offspring who had a normal spermiogram. Hence, linkage between human leukocyte antigens and gonadal failure in this family had been excluded. The possible etiology of familial, chromosomally competent, gonadal failure is discussed.
两名原发性闭经的姐妹被诊断为46,XX单纯性腺发育不全。她们的兄弟，表型和基因型均正常的男性，因原发性生精障碍而无精子症。观察到父母近亲结婚，提示为常染色体隐性遗传。这是首次报道的一个家庭，其中一名健康男性和两名女性均受性腺生精障碍影响。内分泌研究显示三名受影响的兄弟姐妹性腺功能受损。两名性腺发育不全的女性和无精子症男性共享一个人类白细胞抗原单倍型；然而，第二个单倍型不同。在月经稀发的姐妹（其促性腺激素释放激素试验与正常卵巢功能相符）、母亲以及其一名精液检查正常的后代中也发现了共同的单倍型。因此，已排除该家庭中人类白细胞抗原与性腺功能衰竭之间的连锁关系。讨论了家族性、染色体正常的性腺功能衰竭的可能病因。
