46,XX ovarian dysgenesis-short stature syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
46,XX ovarian dysgenesis-short stature syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.