Diagnostik und Therapie des klassischen adrenogenitalen Syndroms

Congenital adrenal hyperplasia (CAH) encompasses a group of hereditary diseases. The severity of the causative mutation determines the clinical picture. The most common form is 21-hydroxylase deficiency which can be detected within the first days of life due to the established newborn screening in Germany and can be treated early. Untreated CAH accounts for virilization of girls, a precocious puberty in girls and boys with accelerated bone age followed by a short stature. Additional life-threatening salt-wasting crises occur in cases of classical salt-wasting CAH. The treatment of the classical CAH includes a lifelong drug therapy, which involves treatment with corticosteroids and also mineral corticoids in the presence of salt-wasting. Treatment is controlled by clinical and laboratory parameters whereby treatment as well as over-treatment must be avoided by individualized therapy. Both women and men with classical CAH show impaired fertility. In addition to a hormonal therapy which must be optimized, undesirable effects of excess androgen are causative for impaired fertility in women and men.