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

Linda A. Baker, Serge Nef, Michael T. Nguyen, Ronita Stapleton, Hans Pohl, Luis F. Parada

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2534-2537
Number of pages4
JournalJournal of Urology
Issue number6
StatePublished - Jan 1 2002


  • Abnormalities
  • Cryptorchidism
  • Gene expression
  • Urethra

ASJC Scopus subject areas

  • Urology


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