46,XX ovarian dysgenesis-short stature syndrome

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A rare genetic disorder with difference 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. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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46,XX ovarian dysgenesis-short stature syndrome?

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