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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995. and 2005.

Neonatal screening for congenital adrenal hyperplasia (CAH) has been established in many developed countries. The aim of the study was to evaluate incidence, gender, symptoms and age at diagnosis among patients with classical CAH due to 21- hydroxylase deficiency in Croatia. Data were collected retrospectively for all CAH patients born and electively aborted in Croatia during 1995. – 2005. using questionnaires completed by their appointed pediatricians. The patients have been divided as having salt-wasting (SW) and simple virilizing (SV) form according to clinical picture, the levels of 17- hydroxyprogesterone (17-OHP), androgens, aldosterone and plasma renin activity, electrolyte measurements and genotyping. Thirty two patients with classical CAH were born between 1.01.1995. and 31.12.2005. There were 19 SW (11 females/8 males) and 13 SV (5 females/8 males) patients. With 494, 942 live births over this period, the incidence of classical CAH was estimated to 1:15, 470. The incidence would be higher if two SW female fetuses, electively aborted after prenatal diagnosis, were included. Mean age of diagnosis was 1.2 weeks for SW girls (range 1-2 weeks), 4.8 weeks for SW boys (range 2-8 weeks), 7 months for SV girls (range 1-16 months) and 4.9 years for SV boys (range 2.5-7 years). The initial symptom in all 11 SW girls was virilization of external genitalia and 7 patients also had adrenal crisis. Adrenal crisis was diagnostic symptom in all 8 SW boys. The initial symptom in all 5 SV girls was virilization of external genitalia and the initial symptom in all 8 SV boys was accelerated growth and precocious pseudopuberty. The incidence of CAH estimated upon the number of diagnosed patients is about 25% lower that the incidence reported after the newborn screening. Therefore, the higher incidence of CAH in Croatia would be expected, which justifies introduction of newborn screening based on the measurement of 17-OHP.

Classical congenital adrenal hyperplasia; 17-OHP; Croatia

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