Isolated splenogonadal fusion

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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
Abnormal scrotum morphologyHP:0000045Unilateral cryptorchidismHP:0012741Testicular massHP:0032404Hydrocele testisHP:0000034PolyspleniaHP:0001748Bilateral cryptorchidismHP:0008689Abnormal epididymis morphologyHP:0009714Ectopia of the spleenHP:0010452Abnormal penis morphologyHP:0000036Elevated circulating alpha-fetoprotein concentrationHP:0006254Abnormal circulating lactate dehydrogenase concentrationHP:0045040
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated splenogonadal fusion.

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No actively recruiting trials found for Isolated splenogonadal fusion at this time.

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No specialists are currently listed for Isolated splenogonadal fusion.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA 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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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.