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Article

Identification of a novel androgen receptor mutation in a family with multiple components compatible with the testicular dysgenesis syndrome.

The Journal of clinical endocrinology and metabolism - 1 Jun 2013

Lottrup Grete, Jørgensen Anne, Nielsen John E, Jørgensen Niels, Duno Morten, Vinggaard Anne Marie, Skakkebæk Niels E, Rajpert-De Meyts Ewa

Abstract excerpt

CONTEXT: Androgen signaling via the androgen receptor (AR) is essential for normal testis development and male reproductive functions. We describe a rare family with 3 males affected by a mild disorder of sex determination compatible with testicular dysgenesis syndrome (TDS), including subfertility, cryptorchidism, hypospadias, and testicular cancer, caused by a novel AR mutation. OBJECTIVE: The aim of this study...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Neoplasms, Germ Cell and Embryonal

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Identifiers

PMID: 23589523
DOI: 10.1210/jc.2013-1278

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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