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

Dumic, Katja K. and Grubic, Zorana and Kusec, Vesna and Braovac, Duje and Gotovac, Kristina and Vinkovic, Maja and Vucinic, Maja and Dumic, Miroslav (2023) The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population. Frontiers in Endocrinology, 14. ISSN 1664-2392

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Abstract

Objective: Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 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 CYP21A2 variants.

Design: Cross-sectional study.

Methods: Data from a Croatian 21-OHD genetic database was reviewed, and only Romani patients were included in the study. CYP21A2 genotyping was performed using allele-specific PCR, MLPA, and Sanger sequencing.

Results: According to a survey conducted in 2017, Croatia had 22,500 Romani people and six of them had a salt-wasting (SW) form of 21-OHD. All were homozygous for the c.IVS2-13A/C-G pathological variant in intron 2 and descended from consanguineous families belonging to different Romani tribes. The calculated prevalence of 21-OHD in Croatian Romani is 1:3,750, 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 who is of mixed Romani/Croatian descent and heterozygous for the c.IVS2-13A/C-G pathological variant (not included in the prevalence calculation).

Conclusion: A high prevalence of SW 21-OHD in the Croatian Romani population caused by the homozygous cIVS2-13A/C-G pathological variant was found. In addition to isolation and consanguinity, other possible reasons could be the heterozygous advantage of the CYP21A2 gene pathological variant and the bottleneck effect as a result of the Romani Holocaust in World War II.

Item Type: Article
Subjects: Pustaka Library > Mathematical Science
Depositing User: Unnamed user with email support@pustakalibrary.com
Date Deposited: 05 Jul 2023 04:41
Last Modified: 09 Oct 2023 06:41
URI: http://archive.bionaturalists.in/id/eprint/1324

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