Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
Joint Authors
Neocleous, Vassos
Fanis, Pavlos
Toumba, Meropi
Phedonos, Alexia A. P.
Picolos, Michalis
Andreou, Elena
Kyriakides, Tassos C.
Shammas, Christos
Skordis, Nicos
Tanteles, George A.
Phylactou, Leonidas A.
Source
International Journal of Endocrinology
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-04-12
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Neocleous, Vassos& Fanis, Pavlos& Toumba, Meropi& Phedonos, Alexia A. P.& Picolos, Michalis& Andreou, Elena…[et al.]. 2017. Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia. International Journal of Endocrinology،Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1166694
Modern Language Association (MLA)
Neocleous, Vassos…[et al.]. Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia. International Journal of Endocrinology No. 2017 (2017), pp.1-8.
https://search.emarefa.net/detail/BIM-1166694
American Medical Association (AMA)
Neocleous, Vassos& Fanis, Pavlos& Toumba, Meropi& Phedonos, Alexia A. P.& Picolos, Michalis& Andreou, Elena…[et al.]. Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia. International Journal of Endocrinology. 2017. Vol. 2017, no. 2017, pp.1-8.
https://search.emarefa.net/detail/BIM-1166694
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1166694