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Int J Endocrinol. 2017;2017:8984365. doi: 10.1155/2017/8984365. Epub 2017 Apr 12.

Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.

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Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Pediatric Endocrine Clinic, IASIS Hospital, Paphos, Cyprus.
Alithias Endocrinology Center, Nicosia, Cyprus.
Dasoupolis Endocrinology Center, Andrea Dimitriou Street Dasoupolis, Nicosia, Cyprus.
Yale Center for Analytical Sciences, Yale School of Public Health, New Haven, CT, USA.
Clinical Genetics Department, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus.
St. George's University of London Medical School at the University of Nicosia, Nicosia, Cyprus.


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.

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