Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders causing deficient cortisol synthesis. The commonest cause, 21-hydroxylase deficiency, accounts for about 90–95% of cases. Other entities such as deficiencies of 11β-hydroxylase, 17α-hydroxylase, 3β-hydroxysteroid dehydrogenase type 2, and P450 oxidoreductase are considerably rarer. The differential diagnosis has to be established as different forms of CAH will require different...

CAH is the commonest inborn endocrine disorder and associated with significant morbidity. The health status of CAH adult patients has recently been reported by the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive, CaHASE (Arlt et al. JCEM 2010 95 5110–21). Compared to the health survey for England, metabolic abnormalities were common in adult patients with CAH: obesity (41%), hypercholesterolemia (46%), insulin resistance (29%), ost...

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