Orphanet: Congenital adrenal hyperplasia due to 17 alpha hydroxylase deficiency

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Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Disease definition

A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


Classification level: Disorder
  • Synonym(s):
    • CAH due to 17-alpha-hydroxylase deficiency
    • Combined 17-hydroxylase/17,20-lyase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E25.0
  • OMIM: 202110
  • UMLS: C0268285
  • MeSH: -
  • GARD: 1469
  • MedDRA: -

Detailed information

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