@article{b36f3b35e7ab455fafdb4e69ba3ceba5,
title = "Identification of a novel androgen receptor mutation in a family with multiple components compatible with the testicular dysgenesis syndrome",
abstract = "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.",
keywords = "Adolescent, Adult, Cryptorchidism, Gonadal Dysgenesis, Humans, Hypospadias, Immunohistochemistry, Male, Mutation, Neoplasms, Germ Cell and Embryonal, Receptors, Androgen, Testicular Neoplasms",
author = "Grethe Lottrup and Anne J{\o}rgensen and Nielsen, {John E} and Niels J{\o}rgensen and Morten Dun{\o} and Vinggaard, {Anne Marie} and Skakkeb{\ae}k, {Niels E} and {Rajpert-De Meyts}, Ewa",
year = "2013",
month = jun,
doi = "10.1210/jc.2013-1278",
language = "English",
volume = "98",
pages = "2223--9",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "Endocrine Society",
number = "6",
}