The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.

Objective: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the gene. After a high prevalence of classic 21-OHD CAH in the Romani population was reported in the Republic of North Macedonia, we decided to estimate the prevalence of 21-OHD in Croatia and, if high, assess the possible causes and estimate the frequency of particular variants.

Design: Cross-sectional study.

The effect of 17 years of increased salt iodization on the prevalence and nature of goiter in Croatian schoolchildren.

Background High goiter prevalence caused by iodine deficiency (medium content 5.6 mg potassium iodide [KI]/kg of salt, median urine iodine concentration [UIC] 68 μg/L) in Croatia was observed in 1991 and 1995 when salt was iodized with 10 mg KI/kg. A new regulation introduced in 1996, specified 25 mg KI/kg of salt resulting in an increase of median UIC to 248 μg/L.