[Present state of diagnosis and treatment of the adrenogenital syndrome (author's transl)].
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.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000453:epidemiology; D000367:Age Factors; D000728:Androgens / Q000097:blood / Q000652:urine; D001827:Body Height / Q000187:drug effects; D001846:Bone Development; D002648:Child; D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D005260:Female; D005860:Germany, West; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006913:Hydroxysteroid Dehydrogenases / Q000172:deficiency; D007223:Infant; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency; D010088:Oxidoreductases / Q000172:deficiency; D011379:Prognosis; D014883:Water-Electrolyte Imbalance
D000728:Androgens; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases; D006913:Hydroxysteroid Dehydrogenases; D006854:Hydrocortisone
Gegenwärtiger Stand der Diagnostik und Therapie des adrenogenitalen Syndroms