1. Diseases
  2. 46,XX ovarian dysgenesis-short stature syndrome

46,XX ovarian dysgenesis-short stature syndrome

Disease Export to PDF
Name:
46,XX ovarian dysgenesis-short stature syndrome
Description:
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.
ORPHAcode:
444048
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
MCM9
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14