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Androgen Insensitivity Syndrome - Kennedy Disease

developmental chromosome http triplet www repeat

Kennedy disease is a neurological condition that is also due to a mutation of the androgen receptor gene. Affected individuals are phenotypically normal males who are fertile, although after puberty they may develop enlarged breasts, consistent with very mild androgen insensitivity. The disorder causes progressive weakness over several decades, along with tremor, difficulty swallowing, and some sensory problems. The mutation that causes Kennedy disease is an expanded "triplet repeat" of CAG nucleotides, making this condition one of the family of triplet repeat diseases that includes Huntington's disease.

Richard Robinson

Bibliography

Gilbert, Scott. Developmental Biology, 5th ed. Sunderland, MA: Sinauer Associates, 1997.

Internet Resources

Androgen Insensitivity Syndrome. <http://www.emedicine.com/PED/topic2222.htm>.

Statement of the British Association of Paediatric Surgeons Working Party on the Surgical Management of Children Born with Ambiguous Genitalia. <http://www.baps.org.uk/documents/Intersex%20statement.htm>.

Warne, Garry. Complete Androgen Insensitivity Syndrome. Victoria, Australia: Department of Endocrinology and Diabetes, Royal Children's Hospital. <http://www.rch.unimelb.edu.au/publications/CAIS.pdf>;.

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