XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

Authors

  • Komudi Siriwardena,

    Corresponding author
    • Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • Almundher Al-Maawali,

    Corresponding author
    • Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • Andrea Guerin,

    1. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • Susan Blaser,

    1. Division of Pediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • David Chitayat

    1. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    2. Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, University of Toronto, Toronto, Ontario, Canada
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  • Komudi Siriwardena and Almundher Al-Maawali have contributed same to the manuscript preparation.
  • Conflict of interest: None.

Correspondence to:

David Chitayat, Department of Obstetrics and Genecology, The Prenatal Diagnosis and Medical Genetics Program, The Ontario Power Generation Building, 700 University Avenue, Room 3292, Toronto, Ontario M5G 1Z5, Canada.

E-mail: dchitayat@mtsinai.on.ca

Abstract

We report on a 46,XY female with pontocerebellar hypoplasia and intellectual disability. To our knowledge, this is the fourth reported patient with this constellation and further confirms a rare new syndrome. The condition is probably a single gene disorder with a currently unknown mode of inheritance. The causative gene is likely involved in the normal gonadal sex determination as well as the cerebral and cerebellar formation and function. © 2013 Wiley Periodicals, Inc.

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