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Müllerian aplasia and hyperandrogenism

Disease definition

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.

ORPHA:247768

Classification level: Disorder
  • Synonym(s):
    • Müllerian duct failure and hyperandrogenism
    • WNT4 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q51.8
  • OMIM: 158330
  • UMLS: C2675014
  • MeSH: -
  • GARD: -
  • MedDRA: -
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