Familial gonadal germinative failure: endocrine and human leukocyte antigen studies.
Fertil Steril
; 40(2): 215-9, 1983 Aug.
Article
en En
| MEDLINE
| ID: mdl-6409674
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.
Buscar en Google
Colección:
01-internacional
Asunto principal:
Oligospermia
/
Disgenesia Gonadal
/
Disgenesia Gonadal 46 XY
/
Trastornos de la Menstruación
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Fertil Steril
Año:
1983
Tipo del documento:
Article