Isolated follicle stimulating hormone deficiency

Orpha code: 52901OMIM code: 229070

Definition

A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.

Disease data
Classification

Disease

Synonyms
Isolated FSH deficiency
Izolowany Niedobór FSH
ORPHA code
52901
OMIM code
229070
ICD10 code
E23.6
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl