MRCEM Notes

Congenital adrenal hyperplasia: features

21-hydroxylase deficiency features
  • virilisation of female genitalia
  • precocious puberty in males
  • 60-70% of patients have a salt-losing crisis at 1-3 wks of age

11-beta hydroxylase deficiency features
  • virilisation of female genitalia
  • precocious puberty in males
  • hypertension
  • hypokalaemia

17-hydroxylase deficiency features
  • non-virilising in females
  • inter-sex in boys
  • hypertension

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