Urogenital Sinus

What is a urogenital sinus?

A urogenital sinus is a congenital (present at birth) defect in the urinary and reproductive systems. If your baby has a urogenital sinus, they only have two openings: a rectum where stool (poop) comes out and a shared opening for urine (pee) and the vagina.

A urogenital sinus occurs early during fetal development. Typically, for a short period during fetal development, the following tracts share a common cavity (space) and opening:

• Intestinal tract (rectum).
• Genital tract (vagina).
• Urinary tract (urinary bladder).

This single unit is a cloaca. As the fetus develops, the three tracts typically separate and establish their own openings, creating a vagina, urethra and anus (butthole). But sometimes the urinary and genital tracts — specifically the urethra and vagina — don’t separate from one another and continue to share the same opening. This shared opening is a urogenital sinus.

Another name for a urogenital sinus is persistent urogenital sinus (PUGS).

What does the urogenital sinus develop to?

During typical development, the urogenital sinus develops into the urethra and vulvar vestibule. The urethra is the tube through which pee leaves your body. The vulvar vestibule is the skin between your inner labia (vaginal lips) and the opening of your urethra and vagina.

Where is the urogenital sinus located in the body?

The urogenital sinus connects the urethra and vagina.

What are the types of urogenital sinus?

There are two types of urogenital sinus:

• Low-joined (low confluence). In a low-joined urogenital sinus, the point at which the urethra and vagina join together is low, or closer to the opening out of the body, and the shared section is short. The urethra and vagina are relatively normal in their size and location.
• High-joined (high confluence). In a high-joined urogenital sinus, the point at which the urethra and vagina join is farther up the channel, or farther from the opening out of the body, and the shared section is long. High-joined urogenital sinuses are more serious because severe complications can develop, including the anus being too far forward on your body.

How rare is urogenital sinus?

Urogenital sinus is rare. It affects about 0.6 per every 10,000 births.

What are the symptoms of urogenital sinus?

Urogenital sinus symptoms may vary according to the condition’s severity. Specific signs may include:

• The presence of a single opening for poop to leave the body and only one other opening for both the vagina and urethra.
• Swelling of the vagina from pee (hydrocolpos).
• Abnormal closure of the vagina.
• Absence of the vagina.
• The uterus, ovaries or fallopian tubes not fully developing.

What causes urogenital sinus?

Medical experts don’t always know what causes urogenital sinus.

In some cases, it may involve congenital adrenal hyperplasia (CAH). CAH is a group of genetic disorders. When you have CAH, one or both of your adrenal glands don’t produce an enzyme that hormones need to develop. This can lead to unusually developed genitals. CAH can affect anyone, but babies assigned female at birth (AFAB) are more likely to have unusually developed genitals.

Virilization may also cause a urogenital sinus. Virilization occurs when someone AFAB has too many male sex hormones (androgens) in their body. Androgens help your body enter puberty and develop certain physical characteristics, including a deeper voice, body hair and muscles.

How is urogenital sinus diagnosed?

Diagnosing urogenital sinus is an important part of deciding how to treat it. It can affect your child’s overall growth and development, not just their genitals.

Sometimes, healthcare providers can diagnose urogenital sinus during a prenatal ultrasound. But providers usually discover a urogenital sinus during your baby’s first physical examination. They’ll typically order blood tests to learn more about your baby’s overall health and genetic issues.

A provider may order additional imaging tests to confirm their diagnosis or gather more information about the extent of the urogenital sinus. These tests may include:

• Ultrasound. An ultrasound uses high-frequency sound waves to take a video or photos of the internal structures of your body. It can show problems with your baby’s kidneys, bladder, vagina and rectum. It can also detect hydrocolpos if pee builds up in your baby’s vagina.
• Retrograde genitogram. A retrograde genitogram is a type of imaging test. A provider injects a dye into the common urethra/vagina and takes X-rays. The dye helps the provider identify the sizes, shapes and locations of tissues and organs.
• Magnetic resonance imaging (MRI). An MRI uses a magnet, radio waves and a computer to take clear images of your body. It can provide a very detailed image of the urogenital sinus. A provider can also use an MRI to look at your child’s pelvis and spine to see if there are any problems in those areas.
• Endoscopy. An endoscopy uses a long, thin tube with a light and camera on the end (endoscope) to take pictures or video. A provider will insert the endoscope into the common urethra/vagina to see the anatomy.

How is a urogenital sinus treated?

The only way to treat a urogenital sinus is through surgery to separate your baby’s vagina and urethra. Surgery may be controversial, especially in virilized children with congenital adrenal hyperplasia who providers consider to have a form of disordered sexual development (DSD). Surgery will only take place after you have detailed discussions with your child’s care team, which includes:

• A urologist. A urologist specializes in diagnosing conditions that affect the urinary and reproductive systems.
• An endocrinologist. An endocrinologist specializes in conditions that affect your endocrine system. Your endocrine system creates and releases hormones.

Surgery typically occurs during your baby’s first year of life. A urologist will perform the surgery. A urologist is a medical doctor who specializes in diagnosing and treating conditions that affect the urinary and reproductive systems.

For low-joined urogenital sinus, a urologist will likely perform a flap vaginoplasty. During a flap vaginoplasty, they create two separate openings from the body — one each for the vagina and urethra.

For high-joined urogenital sinus, a urologist will usually perform a pull-through vaginoplasty. A pull-through vaginoplasty is a more complicated surgery. The urologist will detach the vagina from the common opening, make it into its own entity and close the opening. Pee will continue to leave the body through what had been the common opening.

In some high-joined urogenital sinus cases, a urologist will perform a urogenital mobilization in combination with a flap vaginoplasty. During a urogenital mobilization, they’ll:

• Separate the rectum.
• Detach (mobilize) the urethra and vagina together to reach the perineum.
• Attach the rectum to the sphincter.
• Perform a flap vaginoplasty.

Some people may also need a clitoroplasty and/or labiaplasty. A clitoroplasty involves reshaping tissue to create a more typical clitoris. The surgeon will preserve the nerves as much as possible to allow your child to have a healthy sex life when they’re older. A labiaplasty involves reshaping the labia that surround the vagina.

How soon after urogenital sinus treatment will my child feel better?

Your child will stay at a healthcare facility for at least a few days after urogenital sinus surgery. Pain should start to go away within a week, and they should make a full recovery within a month. Your child’s healthcare provider will give you a better idea of what to expect according to the severity of your child’s urogenital sinus.

Can urogenital sinus be prevented?

Talk to a healthcare provider if you have a biological family history of congenital adrenal hyperplasia and you’re pregnant or trying to get pregnant. You can supplement hormones before birth (prenatally) to prevent a urogenital sinus.

What can I expect if my child has urogenital sinus?

Your child’s outcome depends on the extent of their urogenital sinus. Surgery aims to give your child normal function and typical genital appearance. Most children who have surgery can pee normally after they heal.

As your child ages, their vagina may become narrower and shorter (vaginal stenosis). This can cause issues with having vaginal sexual intercourse.

A urogenital sinus shouldn’t prevent them from getting pregnant. But if surgery is extensive, it’s a good idea to deliver their baby through a cesarean section (C-section). A healthcare provider will discuss your child’s options at the appropriate time.

How do I take care of my child?

Your child’s healthcare providers will talk to you about how you can provide the best care. The severity of the urogenital sinus and the surgical outcome will factor into their ongoing care.

When should I see a healthcare provider?

Your child will need frequent follow-up appointments after surgery to ensure they’re healing properly and their body is functioning as expected. Be sure to attend all follow-up appointments.

Talk to your child’s pediatrician or urologist if you notice any new symptoms, including loss of bladder control (urinary incontinence).

What questions should I ask my child’s healthcare provider?

Questions you may want to ask your provider include:

• What type of urogenital sinus does my child have?
• What surgery do you recommend?
• At what age do you recommend surgery?
• Will my child have any pain, or are they in pain now?
• Will my child need more surgeries as they get older?
• Do you expect my child to have problems with their urethra or vagina as they grow?
• Will this affect my child’s menstrual cycle?
• Will this affect my child’s ability to get pregnant?
• Will my child be able to have a baby safely?

What is a urogenital disorder?

A urogenital disorder is a condition that affects your urinary and genital systems. Other examples include:

• Benign (noncancerous) tumors.
• Hernia.
• Sexually transmitted infections (STIs).
• Cancer, including bladder cancer, ovarian cancer or uterine cancer.
• Interstitial cystitis/bladder pain syndrome (IC/BPS).

A note from Cleveland Clinic

It can be shocking or scary to find out your child has urogenital sinus. But surgery can treat urogenital sinus by creating separate tracts for your child’s urethra and vagina. That means your child should be able to pee comfortably. And as they age, they should be able to menstruate. But they may have trouble having vaginal sexual intercourse when they get older. Talk to your child’s healthcare provider. They can answer your questions and address your concerns.