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Pediatric Surgery International

, Volume 34, Issue 7, pp 807–812 | Cite as

Genetic analysis of the human insulin-like 3 gene in pediatric patients with testicular torsion

  • Anna Paola Capra
  • Elisa Ferro
  • Maria Angela La Rosa
  • Silvana Briuglia
  • Tiziana Russo
  • Salvatore Arena
  • Carmelo Salpietro Damiano
  • Carmelo Romeo
  • Pietro Impellizzeri
Original Article
  • 18 Downloads

Abstract

Purpose

Testicular torsion (TT) mainly affects boys under 18 years old. To avoid orchiectomy, TT requires an immediate operative management. The etiology of TT is still controversial. Observed familiar recurrence suggests the presence of a genetic involvement. The INSL3 gene consists of two exons, and it is specifically expressed in fetal and adult Leydig cells. In transgenic mice, deletion of this gene was observed an increased testicular mobility and testicular torsion. We have hypothesized the possible involvement of the INSL3 gene as a predisposing factor of human TT.

Methods

We performed genetic analysis in 25 pediatric patients with unilateral and intravaginal TT (left, n = 13, 56%; right, n = 12, 48%). The age of the patients ranged from 1 to 16 years (median age n = 10.4 ± 5.46 years). In this study, we included two first male cousins affected by TT. Venous peripheral blood samples was obtained after parental written informed consent.

Results

The Thr60Ala polymorphism was detected in exon 1 of INSL3 gene and other 2 rarer variants (rs1047233 and rs1003887) were identified in the 3′ untranslated region. These variants are prevalent in patients with TT instead of healthy subjects.

Conclusions

Additional studies in a larger population are needed to better understand the clinical consequence of the INSL 3 variations founded. This would allow in the future to identify the patients at risk of TT to improve clinical management.

Keywords

Testicular torsion Insulin-like 3 gene Pediatric Adolescent Genetic analysis 

Notes

Funding

This study did not receive any grant.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from all individual participants included in the study. No identifying information about participants is available in the article.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Anna Paola Capra
    • 1
  • Elisa Ferro
    • 1
  • Maria Angela La Rosa
    • 1
  • Silvana Briuglia
    • 1
  • Tiziana Russo
    • 2
  • Salvatore Arena
    • 2
  • Carmelo Salpietro Damiano
    • 1
  • Carmelo Romeo
    • 2
  • Pietro Impellizzeri
    • 2
  1. 1.Department of Human Pathology of Adult and Childhood “Gaetano Barresi”, Unit of Emergency PediatricsUniversity of MessinaMessinaItaly
  2. 2.Department of Human Pathology of Adult and Childhood “Gaetano Barresi”, Unit of Pediatric SurgeryUniversity of MessinaMessinaItaly

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