Genetic defects of the CYP21A2 gene in girls with premature adrenarche

N. Skordis, C. Shammas, A. A P Phedonos, A. Kyriakou, M. Toumba, V. Neocleous, L. A. Phylactou

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Objectives: To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA). Methods: The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP21A2 gene. Results: Twelve girls were diagnosed with non-classic congenital adrenal hyperplasia (NC-CAH) based on stimulated 17-hydroxyprogesterone (17-OHP) levels and the presence of two mutations in CYP21A2, 19 were heterozygotes. The most frequent mutations detected were the mild p.Val281Leu and p.Pro453Ser. Higher levels of mean stimulated 17-OHP were found in the carriers of the p.Val281Leu mutation. The detection rate for two CYP21A2 mutations was higher in girls with PA than in adult females with hyperandrogenemia in our studied population. A notable increased allelic frequency for the known p.Asn493Ser polymorphism was observed in the pool of the 28 girls with PA in whom no mutation was identified. Conclusions: In girls with PA, the frequency of the underlying CYP21A2 genetic defects is similar to that observed in other populations. The carrier status is likely a contributing factor in the genotype-phenotype correlation in NC-CAH. However, polymorphisms and other genes may be implicated in the clinical manifestation of the disease.

Original languageEnglish
Pages (from-to)535-539
Number of pages5
JournalJournal of Endocrinological Investigation
Volume38
Issue number5
DOIs
Publication statusPublished - 23 Apr 2015

Keywords

  • 21-Hydroxylase deficiency
  • Congenital adrenal hyperplasia
  • CYP21A2
  • Premature adrenarche

Fingerprint Dive into the research topics of 'Genetic defects of the CYP21A2 gene in girls with premature adrenarche'. Together they form a unique fingerprint.

  • Cite this

    Skordis, N., Shammas, C., Phedonos, A. A. P., Kyriakou, A., Toumba, M., Neocleous, V., & Phylactou, L. A. (2015). Genetic defects of the CYP21A2 gene in girls with premature adrenarche. Journal of Endocrinological Investigation, 38(5), 535-539. https://doi.org/10.1007/s40618-014-0223-1