engleski

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2010

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder resulting in the loss of activity of one of the enzymes necessary for adrenal steroidogenesis. Aim was to evaluate the incidence, gender, symptoms and age at diagnosis of patients with classical CAH due to 21-hydroxylase deficiency in Croatia. Data were collected retrospectively for all classical CAH patients born between January 1, 1995 and December 31, 2010 and were compared with the data of a previously conducted study evaluating CAH patients discovered between 1964 and 1984. During a 16- year period 51 classical CAH patients were diagnosed. There were 31 salt-wasting (SW ; 21 female/10 male) and 19 simple-virilizing (SV ; 8 female/11 male) patients. With 694075 live births and 50 CAH patients born over this period in Croatia, the prevalence of classical CAH was estimated at 1:13 881. The lower incidence of SW boys compared to SW girls (10:21) and similar number of SW and SV boys (10:11) indicate that a substantial proportion of SW boys die unrecognized. Owing to better healthcare, the diagnosis was established significantly earlier in SW and SV girls compared to the 1964-1984 period (p < 0.003). During 1995-2010 time period, none of the patients died following the diagnosis of CAH and there were no erroneous sex assignments. Despite improvements in healthcare, the diagnosis of CAH in Croatia is still delayed and some of the patients go unrecognized or die. The results of our study support the need of introduction of the newborn screening program for CAH in Croatia.

congenital adrenal hyperplasia

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