Journal article

Androgen insensitivity syndrome in the era of molecular genetics and the Internet: A point of view

GL Warne, JD Zajac, HE MacLean

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | FREUND PUBLISHING HOUSE LTD | Published : 1998

Abstract

The era of molecular genetics has seen the discovery of a great deal of scientific information about the androgen receptor (AR) and about the many AR mutations that have been identified in patients with Androgen Insensitivity Syndrome (AIS). In families with well-characterised mutations, carriers can now be identified and prenatal testing can be offered. An unexpected finding is that an AR mutation also causes X-linked spinobulbar muscular atrophy. The intersex community has established two influential support groups, the AIS Support Group (which has branches in the UK, North America and Australia) and the Intersex Society of North America (ISNA). It is ironic that at a time when advances in..

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University of Melbourne Researchers