• Hyperplasia of Adrenal gland
  • Affects production of 3 main hormones- Cortisol, Aldosterone, Testosterone


  • Deficiency of enzymes in the synthetic pathway of Adrenal Cortex

There are 2 types

  1. Classical type- due to the deficiency of enzyme 21-hydroxylase enzyme.
  2. Non Classical type


In classical CAH

  • There is a block in the production of cortisol and aldosterone with the build-up of 17-hydroxyprogesterone.
  • The precursors cause virilisation features


  • Ambiguous genitalia
  • Salt losing crisis
  • Hypotension
  • Hypertension in 11beta hydroxylase deficiency
  • Precocious puberty
  • Virilisation


  • Karyotype
  • 17-hydroxyprogesterone levels
  • Urine steroid profile
  • Adrenal androgen levels
  • Bone age


  • Hydrocortisone and fludrocortisone replacement
  • Additional Sodium chloride especially in the first year of life


  • Teach parents to recognise signs of illness
  • Physical growth monitoring can be used to follow the effectiveness of treatment

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