Previously, it was shown that a single nucleotide variant NM_000198.3:c.690G>A (chr1:119964814G>A, GRCh37/hg19), which produces a premature translation termination codon at position 230 of HSD3B2 protein (p.Trp230*) in the homozygous state is the major causes of CAH in the indigenous population of RNOA represented by Ossetians (9). The gene discussed is HSD3B2; the disease is congenital adrenal hyperplasia.