PMID: 9642623Jun 27, 1998Paper

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

Journal of Pediatric Endocrinology & Metabolism : JPEM
G L WarneH E MacLean

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 biomedical science regarding AIS are a source of pride, these support groups are accusing the medical profession of having ignored the real needs of patients with AIS. Since the support groups are willing to assist the medical profession to develop better approaches to the management of intersex disorders, a collaborative approach is likely to be mutually beneficial for patients and physicians. ISNA has alienated many doctors by advocating a radical approach, namely that surgery should not be performed to 'correct' ambiguous genitalia until...Continue Reading

References

May 1, 1992·Psychoneuroendocrinology·R W DittmannM H Kappes
Aug 11, 1995·Molecular and Cellular Endocrinology·H E MacLeanJ D Zajac
Jun 1, 1995·The Journal of Steroid Biochemistry and Molecular Biology·A O BrinkmannJ Trapman
Mar 1, 1993·The Journal of Clinical Investigation·H E MacLeanJ D Zajac
Jan 1, 1996·Nucleic Acids Research·B GottliebL Pinsky
May 28, 1996·Proceedings of the National Academy of Sciences of the United States of America·S Yeh, C Chang

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Citations

Jan 15, 2005·Treatments in Endocrinology·Garry L WarneJeffrey D Zajac

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