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.