Novel mutations involving the INSL3 gene associated with cryptorchidism

Lien vers Pubmed [PMID] – 17437853

J. Urol. 2007 May;177(5):1947-51

Cryptorchidism affects 1% to 9% of full-term male neonates. Hypospadias is the second most frequent congenital anomaly seen in newborn males. These pathological conditions are part of the testicular dysgenesis syndrome. Insulin-like factor 3 and LGR8 (leucine-rich repeat-containing G protein-coupled receptor 8), acting as a hormone and a receptor, respectively, are involved in control of the first phase of testicular descent via gubernacular development.