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Heterozygosity for  CYP21A2  mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and women with  CYP21A2  mutations and variants in the 3′UTR region of the gene. Sixty-six patients out of the 169 were identified as carriers of  CYP21A2  mutations. Higher values of stimulated 17 hydroxyprogesterone (17-OHP) levels were found in the carriers of the p.Val281Leu mutation compared to the carriers of other mutations (mean: 24.7 nmol/l versus 15.6 nmol/l). The haplotype of the  ∗ 52C>T,  ∗ 440C>T, and  ∗ 443T>C in the 3′UTR was identical in all heterozygous patients with p.Val281Leu and the haplotype of the  ∗ 12C>T and  ∗ 52C>T was identical in all heterozygous patients with the p.Gln318 ∗ . In conclusion, hyperandrogenaemic females are likely to bear heterozygous  CYP21A2  mutations. Carriers of the mild p.Val281Leu mutation are at higher risk of developing hyperandrogenism than the carriers of more severe mutations. The identification of variants in the 3′UTR of  CYP21A2  in combination with the heterozygous mutation may be associated with the mild form of nonclassic congenital adrenal hyperplasia and reveal the importance of analyzing the  CYP21A2  untranslated regions for the appropriate management of this category of patients.

Variations in the 3′UTR of theCYP21A2Gene in Heterozygous Females with Hyperandrogenaemia