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Article

Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2015

Topcu Vehap, Ilgin-Ruhi Hatice, Siklar Zeynep, Karabulut Halil Gurhan, Berberoglu Merih, Hacihamdioglu Bulent, Savas-Erdeve Senay, Aycan Zehra, Peltek-Kendirci Havva Nur, Ocal Gonul, Tukun Fatma Ajlan

Abstract excerpt

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,...

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PMID: 26197461
DOI: 10.1515/jpem-2014-0500

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.PMID 26197461Read ↗

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