Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.

OBJECTIVE

To report a case of an azoospermic subject with mild androgen insensitivity syndrome (MAIS) and review the relevant literature.

DESIGN

Case report.

SETTING

Academic research hospital.

PATIENT(S)

A 49-year-old man with undermasculinized features and a history of cryptorchidism and azoospermia.

INTERVENTION(S)

Hormonal evaluation and genetic testing of the androgen receptor gene (AR).

MAIN OUTCOME MEASURE(S)

Hormonal levels and sequence chromatogram of the proband and his mother.

RESULT(S)

We found total T in the normal range and high levels of gonadotropins. Karyotype was 46,XY. Genetic testing identified a novel mutation of exon 1 of AR, which resulted in an alanine to serine substitution in the transactivation domain at codon 240 (A240S). Fourteen other mutations of exon 1 of AR have been associated with MAIS to date.

CONCLUSION(S)

The novel mutation A240S of AR is involved in MAIS, a syndrome associated with azoospermia.

Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.