Fertility and Sterility
Volume 94, Issue 1 , Pages 120-125, June 2010

Does the Y chromosome have a role in Müllerian aplasia?

  • Maria Sandbacka, M.Sc.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Corresponding Author InformationReprint requests: Maria Sandbacka, M.Sc., Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland (FAX: 358-919125073).
    • ,
  • Jodie Painter, Ph.D.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Genetic Epidemiology, Queensland Institute of Medical Research, Brisbane, Australia
    • ,
  • Minna Puhakka, M.D.

      Affiliations

    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    • ,
  • Mervi Halttunen, M.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    • ,
  • Hannele Laivuori, M.D.

      Affiliations

    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland
    • Department of Medical Genetics, University of Helsinki, Finland
    • ,
  • Kristiina Aittomäki, M.D.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

Received 17 November 2008; received in revised form 2 February 2009; accepted 3 February 2009. published online 26 March 2009.

Objective

To investigate whether Y chromosomal genetic material has a role in the development of Müllerian aplasia in Finland. We have studied the TSPY1 gene and 38 additional male-specific fragments covering areas of both the long and short arms of the Y chromosome in Finnish patients with Müllerian aplasia.

Design

A retrospective study.

Setting

University hospital and genetic laboratory.

Patient(s)

A sample set of 110 Finnish patients with well-diagnosed Müllerian aplasia and 20 healthy relatives (13 mothers, 4 fathers, and 3 sisters from different families) were included in the study. One hundred healthy female controls with a background of at least one normal pregnancy with delivery were used as controls.

Intervention(s)

Blood samples for DNA extraction.

Main Outcome Measure(s)

Detection of Y chromosomal fragments by polymerase chain reaction in female patients with Müllerian aplasia.

Result(s)

None of the female patients showed presence of the earlier reported TSPY1 gene or 38 additional Y chromosomal markers.

Conclusion(s)

Our results indicate that the studied Y-specific fragments, namely TSPY1 and 38 Y chromosomal markers, are not responsible for the syndrome in these Finnish patients with Müllerian aplasia.

Key Words: Müllerian aplasia, TSPY1, Y chromosome

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 M.S. has nothing to disclose. J.P. has nothing to disclose. M.P. has nothing to disclose. M.H. has nothing to disclose. H.L. has nothing to disclose. K.A. has nothing to disclose.

 Supported by Victoria Foundation, Medicinska Understödsföreningen Liv och Hälsa Foundation, Päivikki and Sakari Sohlberg Foundation in Finland.

PII: S0015-0282(09)00303-3

doi:10.1016/j.fertnstert.2009.02.004

Fertility and Sterility
Volume 94, Issue 1 , Pages 120-125, June 2010

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