Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism

Objective: To show mutational analysis for androgen insensitivity syndrome (AIS)-associated male pseudohermaphroditism (MPH).

Design: Case report.

Setting: Key laboratory of endocrinology at a university hospital.

Patient(s): Four unrelated Chinese patients with MPH referred to our clinic were investigated in this study.

Intervention(s): Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of androgen receptor (AR) gene were assessed by polymerase chain reaction and direct sequencing analysis.

Main outcome measure(s): Molecular characterization of the AR gene.

Result(s): Four mutations (p.P913R, p.D732 N, p.N848 K, fs879X, and p.R608 K) in the AR gene were identified in our study. The p.P913R mutation in the AR gene has not been described previously.

Conclusion(s): Our study identified a novel mutation in the AR gene that may provide us new insights into the molecular mechanisms of AIS. The expanded database of these mutations should benefit patients in the diagnosis and treatment of this syndrome.