Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T

Abstract

Three novel mutations in the androgen receptor gene were detectedby PCR-SSCP and characterized by DNA sequencing of genomicDNA samples from 3 unrelated patients with male pseudohermaphroditism caused by partial androgen insensitivity. Thepatients’ phenotypes suggest that these mutations impaired butdid not abolish the AR function.

Keywords

• Mutation
• Androgens
• Androgen-insensitivity syndrome
• Polymerase chain reaction
• Polymorphism
• Single stranded conformational
• Pseudohermaphroditism
• Male