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Hyperandrogenism due to cortisone reductase deficiency

Disease definition

A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia.

ORPHA:168588

Classification level: Disorder
  • Synonym(s):
    • 11-beta-hydroxysteroid dehydrogenase deficiency type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: -
  • ICD-10: E25.8
  • OMIM: 604931  614662
  • UMLS: C1291245
  • MeSH: -
  • GARD: 9882
  • MedDRA: -

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