When a baby is born, one of the first questions people often ask is whether it’s a boy or a girl. However, for babies with congenital adrenal hyperplasia (CAH), this question isn’t always as easy to answer. These babies may have overdeveloped or underdeveloped genitals that look or function differently from those of other babies. As a result, families may have to decide if they want their child to have surgery.

There’s a lot to think about before choosing to operate on someone with CAH. This decision can be especially tough when the child is just an infant, and you’re not sure how things will change as they grow up. The immediate risks, long-term effects, and ideal timing of surgery are all crucial issues to consider. Before making a decision about surgery, it’s essential to have guidance from your healthcare team. Here’s some background on the topic to help get the conversation started.

Reasons for Surgery

Babies with CAH are exposed to higher levels of male hormones in the womb. These hormones, called androgens, impact how the genitals develop. Sometimes, females with CAH are born with an enlarged clitoris or with their labia connected and sealed together. Upon first glance, these external genitalia may appear more like a penis or testicles than female anatomy. As a result, these babies may receive some form of surgery to alter their genitals so that they align with medically typical female anatomy. This surgery is called feminizing genitoplasty.

Babies with CAH may be born with issues where the vagina and the urethra lead into the same channel. Typically, these two are separate. Since the urethra is the tube that urine travels through, this can raise the risk of urinary tract infections (UTIs).

CAH can significantly affect things like urinary incontinence or sexual function. These issues may be mild or severe. Doctors are also able to perform surgery that’s purely cosmetic (dealing with external appearance and not medically necessary) so that the genitals align more with the social and medical expectation of female genitals. However, it can be difficult to know how your child will be affected by this decision in the future. The decision to operate based on appearance or function requires careful consideration.

Presurgical Testing

Before operating on a baby with CAH, doctors will take a closer look by doing a cystoscopy. A cystoscope is a medical device that can be inserted into the urethra. This imaging test is done while the child is under general anesthesia so they can’t feel or see what’s going on.

The cystoscope is a hollow tube with a camera and a light attached. It’s connected to a computer that displays the images it captures. Cystoscopy lets doctors see the internal anatomy so they can offer more informed advice about what kind of surgery to do.

Before surgery, a genetic examination known as a karyotype test is also performed. This is particularly necessary in children with ambiguous genitalia of any kind, not just an enlarged clitoris. Even if the child has been diagnosed with CAH, in rare cases, karyotype abnormalities can also overlap.

Doctors may also want to conduct imaging tests. The preferred method is a pelvic MRI. An ultrasound may also be performed.

Types of Surgery for CAH

Surgeons may recommend a few different types of procedures depending on the individual situation. Genital surgeries for females with CAH include:

• Clitoroplasty — A procedure that changes how the clitoris looks
• Labiaplasty — A procedure that changes the size of the labia
• Vaginoplasty — A procedure that modifies the vagina and may separate the urinary tract and vagina

For mild cases of an enlarged clitoris (clitoral size under 2 centimeters), the surgeon may use sutures to reposition the clitoris, rather than making it smaller. This is called a recession. For more severe cases, the surgeon may open the clitoris to remove tissue and reduce the size. In the past, doctors may have removed the entire clitoris. Now, healthcare providers aim to preserve the nerves.

Research suggests that clitoroplasty for CAH is usually performed sometime between the age of 4 months and 10 years old. It’s most commonly done in babies under 24 months. Clitoroplasty may be combined with additional reconstructive surgeries on the labia or vagina. Doing both at the same time prevents the need for multiple surgeries.

Labiaplasty separates and reconstructs the external lips or flaps of the genitalia. It may help achieve symmetry if one side is larger than the other.

There are several different approaches to vaginoplasty. The most common type of vaginoplasty for CAH is called a flap vaginoplasty. But ultimately, the specific procedure is based on the individual’s anatomy.

Complications and Surgical Outcomes

All surgery comes with some risk. It’s important to understand these risks and discuss them thoroughly with your child’s healthcare team.

Complications of Clitoroplasty

A small percentage of babies and children who undergo a clitoroplasty experience severe bleeding after the procedure. Fortunately, this can usually be controlled while the child is still recovering at the hospital.

Even if surgery goes well, people aren’t always happy with the outcome. In one study, 1.9 percent of parents who decided on a clitoroplasty for their child were not satisfied with the cosmetic results. In 10.5 percent of cases, clitoral enlargement recurred as the child grew. As a result, most in this group opted for follow-up surgery.

Overall, clitoroplasty for CAH is considered to have a high success rate with a low chance of complications. Specialists generally agree that it’s best for babies with CAH to get genital surgery before age 2. Having surgery earlier is associated with a lower risk of bleeding or infection. Because there’s stigma associated with genital differences, surgery might help the child grow up feeling less self-conscious about their differences.

Complications of Vaginoplasty

There’s some evidence that vaginoplasties have fewer complications when performed after puberty versus before. In about 27 percent of vaginoplasties, scar tissue forms, causing the opening to narrow or close. This is called vaginal stenosis. Rather than address this issue in childhood, it’s usually best to wait until the child becomes an adolescent. Delaying the surgery is not recommended if the child experiences recurrent urinary tract infections.

Long-Term Effects

CAH is a rare disease, so there’s limited research on how surgery on infants with CAH affects their mental and sexual health later in life. If caregivers decide on surgery when their child is an infant, this may not align with their child’s gender identity or preferences when they become older. Many advocates for children with CAH recommend avoiding surgery until the child is old enough to make their own decisions about their body. However, there’s not enough research to know which decision is best for the overall quality of life for someone with CAH.

Urinary issues, like recurrent UTIs, are more common in CAH than in the general population. Unfortunately, surgery doesn’t always eliminate these problems completely.

How To Make the Right Decision

For most, surgery is safe and low risk, and it may improve the quality of life for people with CAH. However, it’s not a cure for the condition. Ongoing management through prescribed medical regimens is still required for life. There’s also a possibility that follow-up surgeries will be required later.

Some parents of children with CAH choose surgical interventions early in life (as young as 3 months old). Others decide to wait until the child is older and can have a say in the decision. There’s no right or wrong way to approach the situation. It’s about finding what feels best for your family.

Since there’s still no firm medical consensus on genital surgery for infants with CAH, it’s a good idea to get more than one clinician’s opinion. Including several members of your child’s healthcare team in your decision-making process can give you different perspectives to consider. Parents who have newborn screening can start thinking about the possibility of surgery before their child is even born.

Along with talking to a surgeon, share your thoughts and concerns with the pediatrician, an endocrinologist, and an experienced urologist. A mental health professional can also provide essential psychosocial support throughout the process.

Talk With Others Who Understand

CAHteam is a resource for people with different forms of CAH and their loved ones. On CAHteam, members come together to ask questions, give advice, and share their stories with others who understand what it’s like.

Are you considering early surgery for an infant with CAH? What factors are you taking into consideration? Share your experience in the comments below.