Congenital adrenal hyperplasia (Q39861)

Congenital adrenal hyperplasia (CAH) refers to a group of conditions associated with either complete (classical form) or partial (non-classical) anomalies in the biosynthesis of adrenal hormones. The condition is characterised by insufficient production of cortisol, or of aldosterone (classical form with salt wasting), associated with overproduction of adrenal androgens. In the classical form, metabolic decompensation (dehydration with hyponatraemia, hyperkalaemia and acidosis associated with mineralocorticoid deficiency, and hypoglycaemia associated with glucocorticoid deficiency) may be life-threatening from the neonatal period onwards. Genital variations may be noted at birth in affected females. Chronic hyperandrogenism may lead to accelerated growth during childhood, but advanced bone maturation may lead to a deficit in final height. Adults tend to be overweight and metabolic disturbances, bone anomalies and fertility problems may also be present. Non-classical forms are associated with later onset, during the peri- or postpubertal period, and manifest with signs of hyperandrogenism (acne, hirsutism, menstrual problems and infertility).