Dr. Amrish Vaidya

Note: Having this condition is a complex situation and is not easily explained in general terms. It is best to personally consult  a qualified doctor with a good understanding of this subject for further details.


What are ambiguous genitalia?

Normally, when a baby is born, it is very obvious whether the baby is a boy or a girl. This is based on the appearance of the genitals.
Sometimes this difference is not very clear. Such a baby is said to have ambiguous genitalia, or a Disorder of Sexual Differentiation (DSD). Previously, this was called an Intersex Condition


How does this happen?

The way the human body is formed in the womb is a complex process that needs very accurate co ordination between many organs, enzymes and hormones . All this is  finally controlled by our genes. If anything goes wrong in this process, abnormalities can occur.  This is what happens with the formation of the genitals as well.
In developing foetuses, before birth,  the appearance of the male and female genitals is quite similar.  As a part of the normal process, boys develop male characteristics, which leads to a male appearance at birth.
Any mistakes in these steps causes the genitals to look mixed or, as they say, ambiguous .


Can this happen with boys and girls, as well?

Yes. The “default mode” for genital development is to go the female way. So, in male foetuses, hormones produced at the right time cause the change to ‘maleness”. If these are not secreted at the right time, or in the right amount, or not secreted at all, or if , for some reason, the hormone cannot act on the developingorgans, then the appearance resembles that of a female.
In female foetuses, if abnormal male hormones are present, then the body part which otherwise forms the clitoris, enlarges and may look somewhat like a penis.


Is this always apparent at birth?

Yes, it should be in most cases. There are a few exceptions.
In some cases, a boy may be diagnosed to have a hypospadias. If, however, there is a hypospadias along with an undescended testis, then there could be a DSD. If appropriate tests are not done, and if a DSD is missed, then these boys may develop breasts at puberty.
Another situation that may be missed is the presence of testes in an otherwise normal looking girl. Some of these girls are diagnosed because of hernias in childhood, while others grow up normally, and are detected because they do not get their monthly periods at puberty.
In any situation, a personal discussion with a doctor is essential to understand the implications of the condition.


What can be done about it?

Several tests are needed to get information on genes, hormones and internal organs. Sometimes, endoscopic procedures and minor operations may be advised just to obtain more information.
Once a diagnosis is made, further medical or surgical treatment may be advised.

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