Fertility and Sterility
Volume 92, Issue 4 , Pages 1347-1350, October 2009

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

  • Giovanna Vinci, M.D., Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France
    • ,
  • Raja Brauner, M.D., Ph.D.

      Affiliations

    • Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie pédiatrique, Le Kremlin Bicêtre, France
    • ,
  • Attila Tar, M.D.

      Affiliations

    • Heim Pál Children's Hospital, Budapest, Hungary
    • ,
  • Hassan Rouba, Ph.D.

      Affiliations

    • Human Genetics Unit, Institut Pasteur of Morocco, Casablanca, Morroco
    • ,
  • Jayesh Sheth, Ph.D.

      Affiliations

    • Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India
    • ,
  • Frenny Sheth, Ph.D.

      Affiliations

    • Foundation For Research in Genetics and Endocrinology, FRIGE, House, Satellite, Ahmedabad, Gujarat, India
    • ,
  • Celia Ravel, M.D., Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France
    • UPMC Univ Paris, Paris, France
    • AP-HP, Hôpital Tenon, Service d'Histologie Biologie de la Reproduction, Paris, France
    • ,
  • Ken McElreavey, Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France
    • Corresponding Author InformationReprint requests: Ken McElreavey, Ph.D., Human Developmental Genetics, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France (FAX: 00 33 1 4568 8639).
    • ,
  • Anu Bashamboo, Ph.D.

      Affiliations

    • Human Developmental Genetics, Institut Pasteur, Paris, France

Received 4 February 2009; received in revised form 3 April 2009; accepted 3 April 2009. published online 21 May 2009.

We screened 100 individuals with anomalies of testicular development or function for mutations in the TSPYL1 gene. A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function.

Key Words: 46,XY DSD, male infertility, TSPYL1, testis

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 G.V. has nothing to disclose. R.B. has nothing to disclose. A.T. has nothing to disclose. H.R. has nothing to disclose. J.S. has nothing to disclose. F.S. has nothing to disclose. C.R. has nothing to disclose. K.M. has nothing to disclose. A.B. has nothing to disclose.

 Supported by the Association pour la Recherche contre le Cancer and by a research grant (1-FY07-490) from the March of Dimes Foundation (to Dr. McElreavey).

PII: S0015-0282(09)00839-5

doi:10.1016/j.fertnstert.2009.04.009

Fertility and Sterility
Volume 92, Issue 4 , Pages 1347-1350, October 2009

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