46,XX ovarian dysgenesis-short stature syndrome

Orpha code: 444048OMIM code: 616185

Definicja

A rare, genetic disorder of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype.

Disease data
Klasyfikacja

Disease

Kod ORPHA
444048
Kod OMIM
616185
Kod ICD10
Q96.8
Kod ICD11
-

No additional description.

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