Familial gonadal germinative failure: endocrine and human leukocyte antigen studies

Fertility and Sterility
M GranatJ G Schenker

Abstract

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.

Citations

Jul 1, 1991·American Journal of Medical Genetics·S A Quayle, K C Copeland
Nov 1, 1985·American Journal of Medical Genetics·S A Al-AwadiR N Schimke
Aug 20, 2011·PloS One·Raja BraunerKen McElreavey
Aug 1, 1994·American Journal of Medical Genetics·B B MendonçaC A Moreira-Filho
Jun 28, 1996·American Journal of Medical Genetics·C M MeyersJ L Simpson
Oct 17, 2003·Endocrinology and Metabolism Clinics of North America·Lawrence M Nelson, Vladimir K Bakalov

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