Sammanfattning
Congenital adrenal hyperplasia is caused by hereditary enzyme defects in the adrenal cortex. The classic form results in reduced production of cortisol and aldosterone accompanied by increased production of adrenocortical androgens. This causes virilisation in girls and adrenocortical insufficiency and precocious puberty in both sexes. In this article we describe the genetics, clinical picture, diagnostics and treatment.