causes of XY females

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A person having 46XY chromosome composition is known as an XY female. At birth the person appears to be a normal male or female but as the person grows up, some of the desired male or female characteristics remain underdeveloped and start giving a look of opposite sex to the person.


Studd (2003) points out that earlier such condition was called Testicular Feminization Syndrome (TFS), but this is now being considered somewhat inappropriate and inaccurate because the testes are not known to produce feminizing factors. This phenomenon is therefore known as Androgen Insensitivity Syndrome (AIS). This insensitivity too is found to occur in varying measures in people. The condition when the Androgens find no response with age, is termed as Complete Androgen Insensitivity Syndrome (CAIS).
The growth as an 'XY female' is considered as abnormal and hence put into the category of patients. Researchers have found that such patients lead a normal life till their abnormal condition is diagnosed by doctors. For example, when a form of male pseudohermaphroditism or testicular feminization syndrome is detected. In this case the androgen receptor sees mutations which in result in X-linked recessive form androgen insensitivity. The childhood of such persons remains quite normal but when the child enters the age of puberty, problem starts. In fact, normally even the parents fail to fathom the distinctive nature of their children and they come to know about it only when they visit specialist gynecologists in order to treat the sterile behavior.
Abnormality in Androgen Receptor (AR) is stated to be the reason behind CAIS. ...
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