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Congenital Adrenal Hyperplasia

Background

Congenital Adrenal Hyperplasia: CAH

Congenital Adrenal Hyperplasia is the name given to a group of enzyme disorders causing impaired production of cortisol (hydrocortisone) from the adrenal glands. By far the commonest type of CAH is 21 hydroxylase deficiency which occurs in roughly 1in 15,000 births. Production of cortisol and the salt-retaining steroid aldosterone is impaired but the androgen pathway (which produces the male hormone testosterone) is intact. The brain, sensing the low levels of cortisol, produces large amounts of adrenocorticotrophin hormone (ACTH) which stimulates the adrenal glands and causes enlargement (hyperplasia). Because of the enzyme block ACTH stimulation cannot normalise cortisol levels and instead results in over-production of androgen.

What are the symptoms? View What are the symptoms?

Medical text written August 1996 by Dr M Donaldson, Senior Lecturer in Child Health, Royal Hospital for Sick Children, Glasgow, UK and Dr R Stanhope. Material on Adults written October 2002 by Dr R Stanhope. Last updated August 2006 by Dr R Stanhope, Consultant Paediatric Endocrinologist, Great Ormond Street Hospital, London, UK.

 

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