Overview
Isolated female hypospadias is a rare birth defect affecting the urinary and genital anatomy in girls and women. In this condition, the opening of the urethra (the tube that carries urine out of the body) is not in its normal position. Instead of being located at the typical spot, the urethral opening may be found on the front wall of the vagina or in another abnormal location. The term 'hypospadias' is much more commonly associated with boys, where the urethral opening is on the underside of the penis, but it can also occur in females, though it is far less recognized and studied. Girls born with this condition may experience symptoms such as an abnormal urine stream that sprays or is difficult to direct, recurrent urinary tract infections, and sometimes difficulty with hygiene. In some cases, the condition may not be noticed until later in childhood or even adolescence. The severity can vary widely from mild displacement that causes few problems to more significant misplacement that affects daily comfort and urinary function. Treatment typically involves surgical correction to reposition the urethral opening to its normal location. The surgery is usually performed by a pediatric urologist and is often done in early childhood when possible. Outcomes after surgery are generally good, and most girls go on to have normal urinary function. Because this condition is isolated, meaning it occurs without other birth defects or syndromes, the overall health outlook is usually very favorable once the anatomical issue is corrected.
Key symptoms:
Abnormal position of the urinary openingUrine stream that sprays or goes in an unexpected directionRecurrent urinary tract infectionsDifficulty with toilet trainingDiscomfort or irritation in the genital areaDifficulty keeping the area clean and dryAbnormal appearance of the external genitaliaVaginal irritation or inflammation
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Isolated female hypospadias.
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View all trials with filters →No actively recruiting trials found for Isolated female hypospadias at this time.
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Specialists
View all specialists →No specialists are currently listed for Isolated female hypospadias.
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 Isolated female hypospadias.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.How severe is my child's hypospadias, and does it require surgical correction?,What is the best age for surgery, and what surgical technique do you recommend?,Are there any additional tests needed to rule out other conditions or syndromes?,What are the risks and expected outcomes of the surgery?,How can we reduce the risk of urinary tract infections before and after treatment?,Will this condition affect my child's future reproductive health?,Is there any chance this condition could be inherited or occur again in future children?
Common questions about Isolated female hypospadias
What is Isolated female hypospadias?
Isolated female hypospadias is a rare birth defect affecting the urinary and genital anatomy in girls and women. In this condition, the opening of the urethra (the tube that carries urine out of the body) is not in its normal position. Instead of being located at the typical spot, the urethral opening may be found on the front wall of the vagina or in another abnormal location. The term 'hypospadias' is much more commonly associated with boys, where the urethral opening is on the underside of the penis, but it can also occur in females, though it is far less recognized and studied. Girls born
At what age does Isolated female hypospadias typically begin?
Typical onset of Isolated female hypospadias is neonatal. Age of onset can vary across affected individuals.