Mutations in INSL3 and RXFP2 Genes in Cryptorchid Boys

Authors

  • Alberto Ferlin,

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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  • Daniela Zuccarello,

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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  • Andrea Garolla,

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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  • Riccardo Selice,

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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  • Cinzia Vinanzi,

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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  • Francesco Ganz,

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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  • Gian Franco Zanon,

    1. Department of Pediatric Surgery, University of Padova, Padova, Italy
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  • Biagio Zuccarello,

    1. Paediatric Surgery, Department of Medical and Surgical Paediatric Sciences, University of Messina, Italy
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  • Carlo Foresta

    1. Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Department of Histology, Microbiology and Medical Biotechnologies, University of Padova, Padova, Italy
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Address for correspondence: Prof. Carlo Foresta, University of Padova, Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Via Gabelli 63, 35121 Padova, Italy. Voice: +39 049 8218517; fax: +39 049 8218520. carlo.foresta@unipd.it

Abstract

Mutations in the INSL3 and RXFP2 genes have been associated with human cryptorchidism but with contrasting data. We analyzed the frequency of mutations in these genes in 600 newborns with cryptorchidism (396 unilateral and 204 bilateral) and 300 noncryptorchid subjects. We found five RXFP2 mutations in five bilateral cryptorchid boys, one INSL3 mutation in a unilateral cryptorchid boy, and one INSL3 mutation in a boy with unilateral cryptorchidism at birth and spontaneous descent during the first month of life. Overall, the frequency of INSL3 and RXFP2 mutations was therefore 7/600 at birth (1.2%) and 7/303 (2.3%) in persistent cryptorchid boys, with a higher prevalence of bilateral forms (5/120, 4.2%). No mutations were found in controls. This study confirmed the association between INSL3 and RXFP2 gene mutations and human cryptorchidism.

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