Abstract
Congenital adrenal hyperplasia (CAH) is a general term applied to several diseases caused by inherited defects of cortisol synthesis. The most common of these is steroid 21-mono-oxygenase (also termed 21-hydroxylase) deficiency (CAH-21OHD), found in approximately 1:10 000-1:15 000 live births. Potentially lethal adrenal insufficiency is characteristic of about two-thirds to three-quarters of patients with the classic salt-wasting form of CAH-21OHD. Non-salt-wasting forms of CAH-21OHD may be diagnosed based in part on genital ambiguity in affected newborn females, and/or by later evidence of androgen excess in members of either sex. Non-classical CAH-21OHD may be detected in up to 1-3% of certain populations, and is often mistaken for idiopathic precocious pubarche in children or polycystic ovary syndrome in young women. This chapter addresses issues relating to long-term consequences in adult life of CAH-21OHD diagnosed in early childhood or adolescence.
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