Ambiguous Genitalia (Atypical Genitalia)

What are the signs and symptoms of ambiguous genitalia? 

The most apparent sign of ambiguous genitalia is external genitals that don’t look as expected. In babies who are genetically female, meaning they have XX chromosomes, this may look like:

• An enlarged clitoris that may look similar to a small penis
• Joined (fused) labia that may look similar to a scrotum
• Lumps in the labia that seem similar to testicles

In babies who are genetically male, meaning they have XY chromosomes, this may look like:

• A separated scrotum that looks like labia
• A urethral opening located at the base of the penis instead of the tip
• A very small or unformed penis
• Undescended testicles

As children with ambiguous genitalia get older, they may have hormonal imbalances. Genetically female adolescents may also have absent or late periods (amenorrhea).

How do we diagnose ambiguous genitalia?

Babies with ambiguous genitalia usually get diagnosed at birth. Their doctor may initially diagnose them based on a physical exam. Your baby may also have tests to confirm the diagnosis, including:

• Blood tests to check your baby’s chromosomes and hormones
• Biopsy to test a small piece of tissue from your baby’s sex organs
• Diagnostic surgery to get a clearer image of their internal organs

We use these tests to find the cause of ambiguous genitalia. The tests may also help us better understand your baby’s potential diagnosis and make decisions about gender.

Assigning a gender can be a complex process and it’s difficult to determine how the choice may affect your child long-term. The gender assignment informs your baby’s treatment plan, but it’s important to understand that your child may choose a different gender as they grow.

How do we treat ambiguous genitalia?

Our Sex Development Outcomes – Achieving Results (SOAR) Clinic cares for infants, children and young adults with disorders of sex development. Through our team approach, we offer comprehensive evaluation, medical and surgical care, psychological counseling, support and education for patients and families.

The goal of treatment for ambiguous genitalia is to ensure your child has sexual and reproductive function as well as social and psychological well-being. Your child’s treatment may include a team of experts, such as pediatric urologists, pediatric endocrinologists, geneticists, psychologists and social workers.

Treatment may include hormone medications to correct imbalances or surgery to preserve sexual function or change the appearance of genitalia. Sometimes babies need surgery to treat medical problems associated with ambiguous genitalia, such as a urethral opening in the wrong place. If surgery is for cosmetic reasons, your baby’s doctor may recommend waiting until your child is old enough to decide whether they want surgery.

Why choose us for treatment of ambiguous genitalia?

Our Department of Pediatric Urology offers expert care for children in the Rocky Mountain region and around the world. We are specially trained in a range of diagnostic tests and medical treatments for urologic conditions. We offer:

• Research-based care: Care for DSDs is always At the SOAR Clinic, we change our treatment approaches and terminology to reflect best practices. We are committed to ongoing research to ensure we offer your child the most up-to-date care that might not be available elsewhere.
• Seamless transitions: Children born with atypical genitalia often receive care throughout their lives. At birth, our Neonatal Intensive Care Unit (NICU) team may evaluate your baby and connect you with the SOAR Clinic. Our Urologic Transitional Care Program helps your child transition seamlessly to adult care when the time comes. We work closely with the University of Colorado Hospital to make this shift as easy as possible. Our specialists across the hospital work together to care for kids with ambiguous genitalia so your child will have access to any expert they need.
• Excellent outcomes: Our team uses noninvasive testing and minimally invasive surgery to minimize your child’s discomfort and reach the best outcome. Our surgery complication rates are among the lowest in the nation and we consistently receive exceptional patient experience scores. We’ll help you find the care solution that’s best for your child.

Contact us

Schedule an appointment with the SOAR Clinic by calling 720-777-6128.

• The American Academy of Pediatrics offers further education about disorders of sex development, including ambiguous genitalia.
• The Urology Care Foundation provides more information about ambiguous genitalia, including frequently asked questions and concerns.
• Schedule an appointment with the Colorado Fetal Care Center by calling 720-777-4463.