Androgen insensitivity syndrome

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Androgen Insensitivity Syndrome (AIS) is a condition where the person is geneticially male (i.e. they have X and Y chromosomes), but lack Receptors that recognise the presence of androgen (a sex determining hormone) and so the person developes physicially as a female. If the person suffers from complete insensitivity, they develop female characteristics, but do not have a uterus and therefore do not menstruate and are infertile. Instead they have testes that are undescended even after puberty and are located abnormally in the pelvic regions. These undesceded testes can become cancerous in later life if they are not removed surgically. People with complete insensivity are usually raised as females and identify personally as females.

People with incomplete/partial insentivity (also called Reifenstein syndrome) have cells that only partly respond to the presence of androgen, and so maybe develop with normal female characteristics, normal male characteristics or both male and female chacteristics. For this reason they may be raised as either males or females and may indentify personally as either male or female.

Mild forms of the syndrome are also seen, where the person develops with male characteristics but may develop breast enlargement at puberty and are often infertile.

Complete and partial forms of the syndrome are seen in 2-5 in 100,000 people who are genetically male, but the mild form is much less common than this[1].

References

  1. Genetics Home Reference (2008) Androgen Insensitivty Syndrome. Available at: http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome (last accessed 28/11/2013)

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