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Journal of Clinical Endocrinology and Metabolism Printed in U.S.A. Copyright © 1998 by The Endocrine Society Azoospermia Associated with a Mutation in the Ligand- Binding Domain of an Androgen Receptor Displaying Normal Ligand Binding, but Defective Trans

By Qi Wang, Farid J. Ghadessy, Alan Trounson, David De Kretser, Rob Mclachlan, S. C. Ng and E. L. Yong

Abstract

Although male infertility affects a significant proportion of couples trying to conceive, the cause of defective spermatogenesis is not known in a large number of cases. Ligand binding studies indicate that a number of these subjects may have defects of the androgen receptor (AR). Genetic screening in subjects with defective spermatogenesis and in 110 fertile controls identified an azoospermic (no sperm in any ejaculates) patient with an amino acid substitution (Gln3Glu) in residue 798 of the AR gene. This germline mutation was pathogenic because it was not observed in fertile controls, was associated with features of minimal androgen insensitivity in our patient, has been related to more severe grades of androgen insensitivity, and MALE INFERTILITY due to defective spermatogenesis affects about 5–7 % of all couples trying to conceive (1). Although the cause of defective spermatogenesis is not know

Year: 2013
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