Androgen insensitivity syndrome

Abstract

Androgen Insensitivity Syndrome is a rare but exciting spectrum of pathology involving some form of a disconnect between the genetic makeup of an individual and his phenotypic appearance. Complete understanding of the aetiology of this syndrome may be lacking but AR gene located on the long arm of the X chromosome has been implicated and is transmitted in an x-linked fashion with variable penetrance. The individuals have a 46XY genetic makeup but demonstrate various forms of end organ resistance to the male hormone. Three variants of complete Androgen Insensitivity Syndrome, Partial Androgen Insensitivity Syndrome and Mild Androgen Insensitivity Syndrome are recognised. Diagnosis is based on history, physical examination and investigations. Management requires multidisciplinary approach involving the endocrinologist, paediatrician, gynaecologist urologist and clinical psychologist. This condition runs in families and relatives can be put under surveillance especially in families where the pathogenic AR gene has been documented.