Novel Androgen Receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome.

Abstract

BACKGROUND\nAndrogen receptor mutations, which cause androgen insensitivity syndrome, impair the actions of 5ɑ-dihydrotestosterone and testosterone, resulting in abnormal sexual development. In most cases, genetic aberrations of the androgen receptor (AR) are caused by substitutions, but also can result from mutations in splicing regions and deletions in the AR gene.\n\n\nCASE\nOur present study describes a female with 46,XY karyotype and normal female external genitalia. A novel de novo c.1669_1670insC insertion in the AR gene caused androgen insensitivity syndrome.\n\n\nSUMMARY AND CONCLUSION\nThis report provides a detailed clinical characterization of the patient and a possible pathogenic mechanism leading to androgen insensitivity syndrome and is particularly useful in genetic counselling.