Müllerian aplasia and hyperandrogenism

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Synonyms: Müllerian duct failure and hyperandrogenism | WNT4 deficiency

A rare syndrome with 46,XX disorder of sex development characterized by Müllerian duct hypoplasia or agenesis associated with clinical and biological evidence of hyperandrogenism in 46,XX females. Patients present with hypoplastic or absent uterus variable abnormalities of other reproductive organs primary amenorrhea acne hirsutism and sometimes renal anomalies. External genitalia and secondary sexual characteristics are normal. Hormonal analysis shows variably elevated serum levels of androstenedione dehydroepiandrosterone and/or total and free testosterone.

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 July 2024

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