novel mutation in the androgen receptor gene causing partial androgen insensitivity syndrome

ABSTRACT

In the present study, a novel mutation in exon 7 of the androgen receptor [AR] gene in an Egyptian patient with partial androgen insensitivity syndrome [PAIS] was described. A male patient aged seven months was presented with ambiguous genitalia; the parents were not consanguineous. The patient had 46, XY karyotype and normal testosterone levels. Both basal and after human chorionic gonadotrophin [HCG] testosterone/dihydrotestosterone ratio was within normal suggesting normal 5-alpha reductase activity. Sequencing analysis of the AR gene revealed a novel mutation [P817A] within the ligand-binding domain [LBD]