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Genetic characterization of two 46,XX males without gonadal ambiguities

  • GENETICS
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Abstract

Purpose

To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities.

Methods

Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus.

Results

The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other.

Conclusions

We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.

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Acknowledgements

We gratefully acknowledge the patients and the family members involved in this study. Financial support was provided by the Canadian Institute of Health Research (CIHR) (MOP53067 to SM) and The Hospital for Sick Children Foundation (XG 02-086 to SM). CH is a recipient of a graduate studentship award from the Interdisciplinary Women’s Reproductive Health Research (IWRH). AM is a recipient of a graduate studentship award from IWRH and of a postgraduate scholarship from the Natural Sciences and Engineering Research Council of Canada (NSERC).

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Authors and Affiliations

  1. Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada

    Agata Minor, Chiho Hatakeyama, Karynn Johnson, Victor Chow & Sai Ma

  2. Allied Health Sciences, Kuwait University, Jabria, Kuwait

    Fawziah Mohammed

  3. Kuwait Medical Genetics Centre, Kuwait, Kuwait

    Alla Farouk

  4. Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada, V6H 3N1

    Sai Ma

Authors
  1. Agata Minor
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  2. Fawziah Mohammed
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  3. Alla Farouk
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  4. Chiho Hatakeyama
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  5. Karynn Johnson
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  6. Victor Chow
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  7. Sai Ma
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Corresponding author

Correspondence to Sai Ma.

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Capsule

A lack of association between phenotype and X chromosome inactivation pattern was found in two sterile SRY positive XX men without gonadal ambiguities.

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Minor, A., Mohammed, F., Farouk, A. et al. Genetic characterization of two 46,XX males without gonadal ambiguities. J Assist Reprod Genet 25, 547–552 (2008). https://doi.org/10.1007/s10815-008-9265-7

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  • DOI: https://doi.org/10.1007/s10815-008-9265-7

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