• PMID: 11992081
• Gene Name: INSL3
• Condition: Infertility
• Association: The study concludes that mutations in the coding region of the INSL3 gene are not a common cause of human cryptorchidism
• PMID: 11992081
• Gene Name: INSL3
• Condition: cryptorchidism
• Association: The study concludes that mutations in the coding region of the INSL3 gene are not a common cause of human cryptorchidism
• Population size: 166
• Population details: 166 (118 boys with cryptorchidism, 48 normal controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: cryptorchidism

The insulin-3 gene: lack of a genetic basis for human cryptorchidism

Baker LA, Nef S, Nguyen MT, Stapleton R, Nordenskjold A, Pohl H, Parada LF.

PURPOSE: The etiology of cryptorchidism appears to be multifactorial and related to hormonal and mechanical factors. Recently, the insulin-3 gene (INSL3) was noted to have a role in mouse gubernacular development and testicular descent. Knockout male mice for the INSL3 gene show isolated bilateral cryptorchidism. This phenotype suggests that INSL3 may have a role in the development of human cryptorchidism. Using single strand conformational polymorphism analysis we detected mutations of the INSL3 gene in boys with cryptorchidism. MATERIALS AND METHODS: Genomic DNA from 118 boys with cryptorchidism and 48 normal controls were obtained from 3 institutions. Using polymerase chain reaction with INSL3 sequence specific primers DNA fragments were analyzed using single strand conformational polymorphism reactions. Samples with band shifts were re-amplified and sequenced to detect mutations. RESULTS: A single base substitution (G greater than A) causing an amino acid change (missense mutation) was identified in 27 of 118 cryptorchid (23%) samples and 12 of 48 normal (25%) samples. Two other base substitutions did not produce alterations in the amino acid sequence (silent mutations). CONCLUSIONS: Although a common polymorphism was detected in the INSL3 gene, no specific mutations were detected in a large population of individuals with cryptorchidism. Therefore, mutations in the coding region of the INSL3 gene are not a common cause of human cryptorchidism. FAU - Baker, Linda A AU - Baker LA AD - John W. Duckett, M. D. Laboratory in Pediatric Urology, Department of Urology and Center for Developmental Biology, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA. FAU - Nef, Serge AU - Nef S FAU - Nguyen, Michael T AU - Nguyen MT FAU - Stapleton, Ronita AU - Stapleton R FAU - Nordenskjold, Agneta AU - Nordenskjold A FAU - Pohl, Hans AU - Pohl H