We generally think of the sex of a baby as simple to determine, they are a boy or girl based on what we can see.  This assumption is often true, but it’s far more complex than just the X and Y chromosomes we all know about.  In fact, sex may less of a black and white girl/boy, and more of a spectrum.

Wait, what? 

The X and Y chromosomes are just one part of the puzzle that makes up a person’s developmental journey.  There are genes on those chromosomes that are absolutely important, but there are also other genes elsewhere that also play a part.  Some of these genes are blueprints for structures, such as ovaries and testicles.  Others eventually make hormones, which are messengers.  

Okay, I agree that it’s not a simple process.  What can go wrong?

Like the old saying, anything that can go wrong will go wrong.  There are many different variations of disorders, from so mild no one ever notices to being unable to determine from an exam which sex the child is.  Rarely, some of these children even have both ovaries and testes.

The most common kind of DSD (Disorder of Sex Development) is congenital adrenal hyperplasia (CAH), which masculinizes a baby.  Male hormones flood the baby, making a boy look more masculine, and a girl can look like a boy instead.  Certain hormones also cause the baby to lose too much salt, and have problems with blood pressure, among others.

Sometimes medicine or supplements the mother takes can cause DSD, one reason it is so important to tell your OB/GYN about anything you take while pregnant.  Also, certain tumors that mom might have can make hormones that affect the baby.

DSD can also develop because of issues with blood flow, or other issues during pregnancy.  If baby doesn’t get enough blood to the parts of their body that are making hormones, then the right hormones wouldn’t be produced.  Or parts of the body may not form correctly.          

What happens if my child has a DSD?

Much of the time the problem is noted at, or soon after birth because part of the first baby exam includes looking for the male or female genitalia.  Sometimes a baby may look typical for a certain sex, then get very sick while in the nursery, leading to an investigation into the cause.  Other times a baby is sent home, but the newborn screen shows an abnormality.  

In any of these cases a team is eventually assembled to help care for the baby.  It often starts with a neonatologist (the doctor in the NICU), and then adds specialists, such as endocrinology, genetics, urology, pediatric surgery, medical ethics, pastoral care, and psychology depending on what the baby needs.  If a baby’s sex is very unclear, then ethics and psychology can help navigate the uncertain and long reaching questions and decisions.  

It used to be that a baby would just be assigned a sex soon after birth based on how best the team thought they could do reconstruction.  Unfortunately, this has lead to situations where the child’s gender identity doesn’t match the sex chosen for the child.  Gender identity is each person’s inner sense of what sex they are, and can be set by three years old.  If the gender identity and assigned sex don’t match, the child can experience gender dysphoria, which can lead to anxiety, depression, and other issues.

Less obvious DSD is sometimes found when couples are having fertility issues, or incidentally during an unrelated test or surgery.  Sometimes it’s never found.  

How can I help my child?

Learn what you can about what is going on with your child.  Look for, or have your doctor give you factual information on your child’s particular issue.  Reach out to other parents and caregivers who have children with similar issues.  There are many support groups that are available online to help you with concerns and questions of raising a child with DSD.  Think carefully before making any decisions on non-urgent permanent procedures before your child can express their own opinion.  Love your child no matter what.

Links.

Nature article on sex.

Ted talk on sex determination in different species.