The
adrenogenital syndrome (AGS;
congenital adrenal hyperplasia [CAH]) is caused by a
congenital defect in biosynthesis of
cortisol. It is transmitted by the autosomal recessiv mode of inheritance. Its frequency in Central Europe is about 1:5000 live births, which means two to three times more frequent than
phenylketonuria. The following
enzyme deficiencies have been described so far: 21-kydroxylase (mild and severe type), 11-hydroxylase, 3-beta-hydroxysteroiddehydrogenase, 17-alpha-hydroxylase,
cholesterol desmolase, 18-hydroxylase, 18-dehydrogenase. The clinical symptoms of AGS consist of signs of
virilism in girls and macrogenitosomia praecox in boys. In addition, life threatening
salt losing crises occur in patients with the severe form of
21-hydroxylase deficiency and the rare cases of 3-beta-hydroxysteroiddehydrogenase and
18-hydroxylase deficiency. The diagnosis should be made as early as possible by a thorough clinical examinations revealing signs of virisism and by the determination of elevated concentrations of
androgens in plasma and urine. The
therapy consists of substitution of
cortisol (
hydrocortisone) in the doses of 25--40 mg per m2 body surface per day. If synthetic derivatives are used
glucocorticoid equivalent doses must be considered. Regular, short-term follow-ups on outpatient basis are necessary in order to monitor proper growth, bone age development and urinary
steroid excretion. On this supposition almost normal growth and development can be achieved in children with AGS. Girls may become fertile following additional corrective surgery. Only in patients with the
salt losing form of AGS normal growth appears to be limited despite optimal medical supervision.