New Insights into the Role of INSL-3 in the Development of Cryptorchidism
Alma-Raluca Lăptoiu,
Elena-Lia Spoială,
Gabriela Dumitrita Stanciu,
Elena Hanganu,
Vasile Valeriu Lupu,
Carmen-Iulia Ciongradi,
Cristina Gavrilovici
Affiliations
Alma-Raluca Lăptoiu
Pediatrics Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Elena-Lia Spoială
Pediatrics Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Gabriela Dumitrita Stanciu
Advanced Research and Development Center for Experimental Medicine (CEMEX), “Grigore T. Popa” University of Medicine and Pharmacy, 16 Universitatii Street, 700115 Iasi, Romania
Elena Hanganu
Department of Biomedical Sciences, “Grigore T. Popa” University of Medicine and Pharmacy, 16 Universitatii Street, 700115 Iasi, Romania
Vasile Valeriu Lupu
Pediatrics Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Carmen-Iulia Ciongradi
Department of Pediatric and Orthopaedic Surgery, “Sfânta Maria” Emergency Children Hospital, 700309 Iași, Romania
Cristina Gavrilovici
Pediatrics Department, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iasi, Romania
Cryptorchidism, defined as the failure of at least one or both testicles to descend into the scrotal pouches, is the most frequent (1.6–9% at birth, 1/20 males at birth) congenital anomaly encountered in newborn males, resulting in one of the most frequent causes of non-obstructive azoospermia in men. Similar to other congenital malformations, cryptorchidism is thought to be caused by endocrine and genetic factors, combined with maternal and environmental influences. The etiology of cryptorchidism is unknown, as it involves complex mechanisms aiming to control the testicular development and descent from their initial intra-abdominal location in scrotal pouches. The implication of insulin-like 3 (INSL-3) associated with its receptor (LGR8) is critical. Genetic analysis discloses functionally deleterious mutations in INSL3 and GREAT/LGR8 genes. In this literature review, we discuss and analyze the implication of INSL3 and the INSL3/LGR8 mutation in the occurrence of cryptorchidism in both human and animal models.