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

Purpose Testicular torsion (TI) mainly affects boys under 18 years old. To avoid orchiectomy, TT requires an immediate operati ve management. The etiology of TI is stilI controversial. Observed familiar recurrence suggests the presence of a genetic involvement. The lNSL3 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 ofthe INSL3 gene as a predisposing factor ofhuman TI. Methods We performed genetic analysis in 25 pediatric patients with unilateral and intravaginal TI (left, Il= 13, 56%; right, 1/= 12, 48%). The age of the patients ranged from I to 16 years (median age 11 = 10.4 ± 5.46 years). In this study, we included two first male cousins alfected by TI. Venous peripheral blood samples was obtained after parental written informed consenl. Results The Thr60Ala polymorphism was detected in eX011 I of INSL3 gene and other 2 rarer variants (rs I 047233 and rs l 003887) were identifìed in the 3' untranslated region. These variants are prevalent in patients with TI instead of healthy subjects. Condusions 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 ofTI to improve clinical management.