title: Familial testicular torsion.
abstract: OBJECTIVE
  Isolated reported cases of familial torsion yield modest information on incidence, genetics or clinical features. We present what is to our knowledge the largest series of familial torsion, including the first 3 generation case and a review of the literature.
  
  
  METHODS
  Since 2006, we have questioned the presence of a positive family history in all patients with torsion at the initial consultation. We compiled data on familial relationship, laterality, age and outcomes of the proband and affected relatives. We collected previously published cases to better understand clinical features and genetics.
  
  
  RESULTS
  Eight of 70 boys (11.4%) with torsion had affected family members. Another 2 families were included from a historical perspective. One relative was affected in 7 families, 2 were affected in 2 and 3 were affected in 1. First degree relatives were most commonly affected. In 1 family torsion occurred in 3 consecutive generations. Despite a family history 50% of patients experienced testicular loss. Brothers were affected in each of the 10 previously reported cases. In 3 families fathers were also affected. There were 3 sets of monozygotic twins. We noted laterality concordance 5 times and discordance 6 times. Age at torsion in probands was adolescence except in 2 with neonatal torsion. No clear inheritance mode was found.
  
  
  CONCLUSIONS
  Familial torsion occurs in about 10% of probands and can affect multiple relatives and generations. A positive family history may be useful for torsion diagnosis and management. Relatives of affected patients need education on the signs and symptoms of torsion, and the importance of early presentation to improve outcome.
authors.affiliation: Divisions of Pediatric Urology, Cohen Children's Medical Center of New York of North Shore-Long Island Jewish Health System, New Hyde Park, NY, USA.
authors.forename: Jimena
authors.initials: J
authors.lastname: Cubillos
authors.forename: Jeffrey S
authors.initials: JS
authors.lastname: Palmer
authors.forename: Steven C
authors.initials: SC
authors.lastname: Friedman
authors.forename: Jaime
authors.initials: J
authors.lastname: Freyle
authors.forename: Franklin C
authors.initials: FC
authors.lastname: Lowe
authors.forename: Lane S
authors.initials: LS
authors.lastname: Palmer
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D013086:Spermatic Cord Torsion / Q000235:genetics*