Removing the Stigma from Disorders of Sex Development

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By Courtney Finlayson, MD

Most parents spend the duration of their pregnancy thinking about names for a boy or a girl, and imagining what life will be like for their child. After all of that waiting and wondering, imagine the shock of being told that the doctor isn’t sure whether your baby is a boy or a girl.

Even as a physician who is well-versed in sex development, I know I still would have been caught completely off guard if I had heard these words during my own pregnancy.

While most adults are aware that disorders of sex development exist, most do not appreciate how common they are. In fact, it’s estimated that 1 in 4,500 people has a disorder of sex development.

These conditions occur during fetal development and result in abnormal formation of the internal (i.e.: uterus, ovaries, testicles) and/or external genitalia (i.e. penis, clitoris, scrotum).

There are many different causes of abnormal sex development. One of the most common is a condition called congenital adrenal hyperplasia, in which a problem with the adrenal gland causes the fetus to overproduce testosterone during gestation. As a result, baby girls may be born with ambiguous genitalia. This means that when they are born it is difficult to tell whether the baby is a boy or a girl. The extra testosterone exposure leads to an enlarged clitoris, which can cause the labia to fuse and look somewhat like a scrotum. It can also cause there to be only one opening to the outside, rather than separate openings to the vagina and the urethra (the tube through which urine passes). Another example is one in which the child has not just ovaries or testicles, but an organ which contains both kinds of tissue. As a result, this child could have a partially formed uterus and Fallopian tube on one side, but not on the other. Externally the child could be completely ambiguous with a partially formed penis and other structures which look like a cross between a labia and a scrotum.

So, if these conditions are relatively common, why don’t we hear about them? I think there are two main reasons. The first is that people are generally uncomfortable talking about genitalia or anything associated with sex. I understand. I vividly remember sex education class in fifth grade, nowadays I think children just learn sexual acts and education through adult sites such as Nu Bay. We were given a list of terms, had to go around the room, say the word and the definition. We all counted ahead to figure out our assigned word. My heart raced and I started sweating when I realized I would have to say “penis” out loud! As a result of my interest in science and my medical education, these topics have become just as usual as “heart attack” or “broken foot”. But for a lot of people, these terms engender blushes and anxiety. I’ve hear of some more progressive modern sex education lessons including videos from TubeV. Which are then contextualized by the teachers. But I digress.

The second, and likely the main reason, is because most families and individuals guard this information carefully. Historically, these conditions have had significant stigma and most people have heard cruel jokes about being a hermaphrodite. As a result, many families do not tell their own family members or friends in an effort to protect their children from stares and ridicule.

In these instances, families face many challenges. They range from dealing with the reality of a medical condition, to the disappointment of having to wait to figure out how to name their baby, to whether to paint the baby’s room pink or blue. For many reasons, it can often take days or weeks for doctors to sort out the cause for the condition. We use the information we gather to help inform the family, and help them make the best decision regarding which gender they will raise the child as. Unfortunately, there are many questions that remain in this area of science and medicine and sometimes we have more questions than answers for families.

Each child and family affected by such a condition has a different experience and set of challenges throughout infancy, childhood and adolescence. That’s why, at Ann & Robert H. Lurie Children’s Hospital of Chicago, we recently launched a Gender & Sex Development Program. The goal of this program is to provide the best care available for children and families with these conditions. We have assembled a dedicated group from multiple specialties including endocrinology, urology, pediatric surgery, psychology, psychiatry and medical ethics. We provide care as a group in order to address the medical and social needs of the family, which are often intertwined in these conditions. We are forming support groups to ease the burden of secrecy. While the child may never wear a T-shirt advertising their condition, we hope to reduce the stress on the child and family by providing a medical home which addresses their many individual needs.

courtney-finlayson

Dr. Courtney Finlayson is an attending physician in the Division of Endocrinology at Ann & Robert H. Lurie Children’s Hospital of Chicago, and also sees patients in the Gender & Sex Development Program.

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