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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency

Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia and therefore the clinical presentation of 21-hydroxylase deficiency has a wide spectrum of clinical and laboratory abnomalities. The recent developments have improved prenatal diagnosis and treatment of affected females to minimise genital virilisation. Despite progress made in its recognition and treatment, diagnosis and management of 21-hydroxylase deficiency is still the subject of many debates and controversies. In this paper, aetiology, symptoms, diagnosis and treatment of 21-hydroxylase deficiency in various groups are reviewed with putting special emphasis on the results of recently published studies.