Overview
Congenital agenesis of the scrotum is a very rare condition present from birth in which a baby boy is born without a scrotum — the pouch of skin that normally holds the testicles. This condition is sometimes called scrotal agenesis or absent scrotum. Because the scrotum does not form properly during pregnancy, the testicles may be undescended, located in an unusual position, or absent as well. The condition is part of a broader group of differences in sex development (DSDs) and disorders of male genital formation. The main physical sign is the complete or near-complete absence of scrotal tissue at birth. This is usually noticed right away during a newborn physical exam. Depending on the individual case, the testicles may be found inside the body (undescended testicles), in the groin area, or missing entirely. Other parts of the urinary or reproductive system may also be affected in some cases. Treatment is focused on surgery to reconstruct the scrotum and, if possible, to place the testicles in the correct position. Hormone therapy may also be needed. A team of specialists works together to plan care that supports both physical health and emotional well-being as the child grows. Early diagnosis and a thoughtful care plan can make a meaningful difference in long-term outcomes.
Also known as:
Key symptoms:
Complete or partial absence of the scrotum at birthTesticles not in their normal position (undescended testicles)Testicles located in the groin or abdomenAbsence of one or both testiclesAbnormal appearance of the external genitaliaPossible differences in the urethra (the tube that carries urine)Possible absence of other nearby reproductive structures
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital agenesis of the scrotum.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital agenesis of the scrotum at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital agenesis of the scrotum.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital agenesis of the scrotum.
Community
No community posts yet. Be the first to share your experience with Congenital agenesis of the scrotum.
Start the conversation →Latest news about Congenital agenesis of the scrotum
No recent news articles for Congenital agenesis of the scrotum.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best surgical plan for my child, and when should surgery happen?,Were the testicles found, and if so, can they be placed in the right position?,Will my child need hormone therapy, and when would that start?,What are the chances that my child will be able to have children in the future?,Should we do genetic testing, and what might it tell us?,What psychological support is available for my child and our family?,How often will my child need follow-up care, and with which specialists?
Common questions about Congenital agenesis of the scrotum
What is Congenital agenesis of the scrotum?
Congenital agenesis of the scrotum is a very rare condition present from birth in which a baby boy is born without a scrotum — the pouch of skin that normally holds the testicles. This condition is sometimes called scrotal agenesis or absent scrotum. Because the scrotum does not form properly during pregnancy, the testicles may be undescended, located in an unusual position, or absent as well. The condition is part of a broader group of differences in sex development (DSDs) and disorders of male genital formation. The main physical sign is the complete or near-complete absence of scrotal tiss
How is Congenital agenesis of the scrotum inherited?
Congenital agenesis of the scrotum follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital agenesis of the scrotum typically begin?
Typical onset of Congenital agenesis of the scrotum is neonatal. Age of onset can vary across affected individuals.