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

ConclusionA 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.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research