Das adrenogenitale Syndrom aufgrund eines 21-Hydroxylasemangels bei Männern

Congenital Adrenal Hyperplasia in Males Due to 21-Hydroxylase Deficiency. Congenital adrenal hyperplasia comprises a group of disorders of the steroidogenic pathway in the adrenal gland resulting in cortisol deficiency, androgen excess, and, in 2/3 of cases, also in aldosterone deficiency. Steroid 21-hydroxylase deficiency accounts for 95 % of cases. Following neonatal screening in the last decade and the introduction of mineraloand glucocorticoid replacement therapy 60 years ago, patients nowadays can have a normal life expectancy. The main goal in these patients is to prevent long-term complications and co-morbidities. While for historic reasons and more severe symptoms women have been primarily investigated, this review focuses on therapeutic challenges in males. In both sexes, the main goals during childhood are to ensure normal growth, pubertal development, and to prevent adrenal crises. In adolescence, transition to adult endocrine care is essential. The main focus of adult care is to prevent co-morbidities with regard to cardiovascular and metabolic outcome, bone health, and the preservation of fertility. J Klin Endokrinol Stoffw 2012; 5 (2): 16–20.