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.