Overview
Isolated splenogonadal fusion is a very rare birth defect in which tissue from the spleen is abnormally connected to a gonad (usually the testis in males, or rarely the ovary in females). The word 'isolated' means this condition occurs on its own, without other major birth defects — as opposed to the 'continuous' type, where a band of splenic tissue connects the spleen to the gonad along with other possible malformations. This condition is present from birth and develops during early fetal life when the spleen and the gonads are forming close to each other. In most cases, it is discovered by accident during surgery for another reason, such as an undescended testicle (cryptorchidism) or an inguinal hernia. The fused splenic tissue usually appears as a lump or mass attached to or near the testicle, which can sometimes be mistaken for a tumor. Because of this, some patients have undergone unnecessary removal of the testicle before the true diagnosis was made. The condition overwhelmingly affects males and is most often found on the left side of the body. In most cases, isolated splenogonadal fusion does not cause symptoms on its own and does not affect overall health. Treatment depends on the situation: if the diagnosis is confirmed, the splenic tissue can often be carefully separated from the gonad, preserving the testicle. Awareness of this condition is important so that doctors avoid removing a healthy testicle unnecessarily.
Also known as:
Key symptoms:
Painless lump or mass near the testicleUndescended testicle (cryptorchidism)Inguinal herniaScrotal swellingMass found during hernia repair surgeryTesticular mass mistaken for a tumorUsually no symptoms at all (found by accident)
Clinical phenotype terms (13)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Isolated splenogonadal fusion.
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Specialists
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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 splenogonadal fusion.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Can the splenic tissue be separated from the testicle without removing it?,Will this condition affect my child's fertility in the future?,Is any additional testing needed to confirm this is not a tumor?,Should a nuclear medicine scan be done before surgery to confirm the diagnosis?,Will my child need any follow-up appointments after surgery?,Is there any chance this condition could affect the other testicle?,Are there any other birth defects we should check for?
Common questions about Isolated splenogonadal fusion
What is Isolated splenogonadal fusion?
Isolated splenogonadal fusion is a very rare birth defect in which tissue from the spleen is abnormally connected to a gonad (usually the testis in males, or rarely the ovary in females). The word 'isolated' means this condition occurs on its own, without other major birth defects — as opposed to the 'continuous' type, where a band of splenic tissue connects the spleen to the gonad along with other possible malformations. This condition is present from birth and develops during early fetal life when the spleen and the gonads are forming close to each other. In most cases, it is discovered by a
How is Isolated splenogonadal fusion inherited?
Isolated splenogonadal fusion follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.