Congenital adrenal hyperplasia – contemporary diagnostics and management during pregnancy

Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. Depending on the clinical level of 21-hydroxylase deficiency, three main types of CAH are differentiated: (1) classical salt-wasting (2) simple virilizing (classical non-salt-wasting) (3) non-classical. CAH prevalence is estimated at 1 : 14 000-1 : 10 000. Clinical picture varies considerably depending on the form. In the classical salt-wasting form, CAH may develop into shock. In simple virilizing CAH, virilization in girls and precocious puberty in boys are dominant. The non-classical form usually presents as hyperandrogenisation and fertility issues. CAH management is mainly based on the use of glucocorticoid therapy supplemented with mineralocorticoids if necessary. CAH requires special management during pregnancy and during labour. For accurate CAH treatment, a number of specialists must be involved, including endocrinology, gynecology, sexology, urology, genetics and psychology specialists.