Androgen Insensitivity Syndrome

Androgen Insensitivity Syndrome (AIS) is when a person is genetically a male but has the physical appearance of a female. This occurs due to abnormal development of reproductive organs in an unborn baby during pregnancy, causing the new born, at the time of birth, to look like a female. It is only at the time of puberty that this disorder begins to show itself.

The gender of a child is determined at the time of conception by the father’s genes. A mother’s egg always contains an X chromosome while a father’s sperm may contain either an X or a Y chromosome. Consequently the XX combination leads to the formation of a baby girl, while an XY configuration results in a baby boy. Under normal circumstances, the Y factor triggers the development of testicles which in turn produce male hormones (known as androgens). It is important to understand that the reproductive organs of both genders evolve from the same tissue, and the respective hormones direct the way.

In androgen insensitivity syndrome, androgens are released but they do not have the desired effect on the ‘neutral’ reproductive tissue. In a way, these cells become ‘insensitive’ to male hormones and thus do not progress towards the formation of a penis. There are two categories of this disorder:

1. Complete androgen insensitivity (also labelled Testicular Feminization)

2. Incomplete androgen insensitivity

When to seek expert advise

Even though for many young girls, menstruation commencing a bit later than expected is a normal phenomenon, it is best not to take this lightly. Get a consult from the Children’s Hospital Service Line or Family Medicine Service Line at the Aga Khan University Hospital. The faculty are highly trained professionals and they can assess your case with ease.

If your family doctor finds it necessary, you may be referred to the Internal Medicine Service Line or Women’s Health Care Service Line at the Aga Khan University Hospital for more specialized evaluation.