Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
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...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2017/8984365 |
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| author | Vassos Neocleous Pavlos Fanis Meropi Toumba Alexia A. P. Phedonos Michalis Picolos Elena Andreou Tassos C. Kyriakides George A. Tanteles Christos Shammas Leonidas A. Phylactou Nicos Skordis |
| author_facet | Vassos Neocleous Pavlos Fanis Meropi Toumba Alexia A. P. Phedonos Michalis Picolos Elena Andreou Tassos C. Kyriakides George A. Tanteles Christos Shammas Leonidas A. Phylactou Nicos Skordis |
| author_sort | Vassos Neocleous |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a06836efd0164039ab1a9291f37ebb7a |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-a06836efd0164039ab1a9291f37ebb7a2025-08-20T03:38:09ZengWileyInternational Journal of Endocrinology1687-83371687-83452017-01-01201710.1155/2017/89843658984365Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with HyperandrogenaemiaVassos Neocleous0Pavlos Fanis1Meropi Toumba2Alexia A. P. Phedonos3Michalis Picolos4Elena Andreou5Tassos C. Kyriakides6George A. Tanteles7Christos Shammas8Leonidas A. Phylactou9Nicos Skordis10Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusAlithias Endocrinology Center, Nicosia, CyprusDasoupolis Endocrinology Center, Andrea Dimitriou Street Dasoupolis, Nicosia, CyprusYale Center for Analytical Sciences, Yale School of Public Health, New Haven, CT, USAClinical Genetics Department, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, CyprusHeterozygosity 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.http://dx.doi.org/10.1155/2017/8984365 |
| spellingShingle | Vassos Neocleous Pavlos Fanis Meropi Toumba Alexia A. P. Phedonos Michalis Picolos Elena Andreou Tassos C. Kyriakides George A. Tanteles Christos Shammas Leonidas A. Phylactou Nicos Skordis Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia International Journal of Endocrinology |
| title | Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia |
| title_full | Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia |
| title_fullStr | Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia |
| title_full_unstemmed | Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia |
| title_short | Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia |
| title_sort | variations in the 3 utr of the cyp21a2 gene in heterozygous females with hyperandrogenaemia |
| url | http://dx.doi.org/10.1155/2017/8984365 |
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