Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia
المؤلفون المشاركون
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.
المصدر
International Journal of Endocrinology
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-8، 8ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-04-12
دولة النشر
مصر
عدد الصفحات
8
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1166694
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر