Familial testicular torsion

Area of Science:

• Urology
• Genetics
• Pediatric Surgery

Background:

• Familial torsion is rarely documented, limiting understanding of its incidence, genetics, and clinical presentation.
• Existing literature provides insufficient data on the hereditary patterns and outcomes of torsion.

Purpose of the Study:

• To present the largest series of familial torsion cases to date.
• To investigate the incidence, genetic factors, and clinical features of familial torsion.
• To include the first reported three-generation case of familial torsion and review existing literature.

Main Methods:

• Systematically queried patients for a family history of torsion since 2006.
• Collected data on familial relationships, laterality, age, and outcomes for probands and relatives.
• Compiled and analyzed previously reported cases of familial torsion.

Main Results:

• Familial torsion was identified in 11.4% of 70 boys, with first-degree relatives most commonly affected.
• One family exhibited torsion across three consecutive generations; brothers were affected in all prior reported cases.
• Despite a family history, 50% of patients experienced testicular loss; no clear inheritance pattern was identified.

Conclusions:

• Familial torsion occurs in approximately 10% of cases and can affect multiple relatives and generations.
• A positive family history is a valuable indicator for diagnosing and managing torsion.
• Educating relatives about torsion symptoms and the importance of timely intervention is vital for improving outcomes.