46,XX ovarian dysgenesis-short stature syndrome

Definition

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

Classification

Disease

ORPHA code

444048

OMIM code

616185

ICD10 code

Q96.8

ICD11 code

*Soruce