دورية أكاديمية
Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
| العنوان: | Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development. |
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| المؤلفون: | Topcu V, Ilgin-Ruhi H, Siklar Z, Karabulut HG, Berberoglu M, Hacihamdioglu B, Savas-Erdeve S, Aycan Z, Peltek-Kendirci HN, Ocal G, Tukun FA |
| المصدر: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2015 Nov 01; Vol. 28 (11-12), pp. 1257-63. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Mar. 2011- : Berlin : Walter de Gruyter Original Publication: London : Freund Pub. House, [1995- |
| مواضيع طبية MeSH: | Exons* , Mutation* , Phenotype*, Androgen-Insensitivity Syndrome/*genetics , Disorder of Sex Development, 46,XY/*genetics , Receptors, Androgen/*genetics , Sexual Development/*genetics, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Testosterone |
| مستخلص: | Aim: Androgen receptor (AR) gene mutations are the leading cause of 46,XY disorders of sex development (DSD) and are associated with varying degrees of androgen insensitivity. The aim of this study is to investigate AR gene mutations in 46,XY DSD patients with normal testosterone secretion, either normal or high testosterone/dihydrotestosterone (T/DHT) ratio and normal SRD5A2 gene analysis, collectively, suggestive of androgen insensitivity syndrome (AIS). Methods: We direct sequenced all eight exons of the AR gene in 21 index patients with varying degrees of undervirilization. Results: We detected AR gene alterations in five patients. In patients with complete AIS we found p.Val30Met in exon 1 and p.Gly689* in exon 4. One patient with partial AIS had p.Gln712Glu in exon 4. In two patients with partial phenotype, we found common p.Glu213Glu (c.639G>A) SNP, and an additional p.Ile817Ile (c.2451T>C) mutation was found in one of these two patients. Discussion: Despite the fact that T/DHT ratio is frequently used in diagnosis of AIS, lack of precisely determined cutoffs compromises correct diagnosis. Hence, depending on clinical and biochemical findings solely may delay correct diagnosis. Direct sequence analysis of the AR is essential for precise diagnosis of AIS. |
| المشرفين على المادة: | 0 (Receptors, Androgen) 3XMK78S47O (Testosterone) |
| تواريخ الأحداث: | Date Created: 20150722 Date Completed: 20160909 Latest Revision: 20181202 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1515/jpem-2014-0500 |
| PMID: | 26197461 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2191-0251 |
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| DOI: | 10.1515/jpem-2014-0500 |