ESPE2022 Poster Category 2 Adrenals and HPA Axis (27 abstracts)
Prevalence and genotype of 21-hydroxylase deficiency in Croatian Romani population
Katja Dumic Kubat , Zorana Grubic , Vesna Kusec , Duje Braovac , Kristina Gotovac , Maja Vinkovic & Miroslav Dumic
University Hospital Centre Zagreb, Zagreb, Croatia
Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data from the Croatian 21-OHD genetic database was reviewed, and only Romani patients were included in the study. Results. According to a survey conducted in 2017, Croatia had 22 500 Romani people and six of them had salt-wasting (SW) form of 21-OHD. All were homozygous for Intron 2 (I2G) mutation and descended from consanguineous families belonging to different Romani tribes (Bayashi, Kalderash and Ashkalia). The calculated prevalence of 21-OHD in Croatian Romani is 1:3750, while in the Croatian general population it is 1:18 000. Three of the six Romani patients originated from two neighboring villages in North-western Croatia (Slavonia County), as well as the seventh patient is of mixed Romani/Croatian descent and heterozygous for I2G mutation (not included in prevalence calculation). Conclusion. The Romani population in Croatia has a high prevalence of SW 21-OHD. Six Romani patients from consanguineous families belonging to different Romani tribes are homozygous for I2G mutation.
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