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Saturday 17 December 2011

Congenital adrenal hyperplasia

- hirsutism, ambiguous genitalia and precocious puberty in boys
- premature epiphyseal closure is a classical feature
- hyperpigmentation and hyperreninaemia

21-hydroxylase deficiency (commonest)
   - raised 17 hydroxyprogesterone is diagnostic
   - excess androgen production due to shunting of 17 hydroxyprogesterone into testosterone and androstenedione production
   - virilisation may result in clitoromegaly and labial fusion in female at birth

11-beta hydroxylase deficiency (second commonest)
   - reduced cortisol leads to increse in ACTH and subsequent increase in production of 11-deoxycorticosterone
   - diagnosis made by raised 11-deoxycortisol




Treatment of CAH
- replacement with dexamethasone/hydrocortisone
- efficacy of treatment is monitored by 17OH progesterone or androstenedione levels

1 comment:

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