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Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene.

Methods

Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed.

Results

Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present.

Conclusions

The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

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Acknowledgments

Dr. Douglas Chesters helped us to improve the text. We appreciate comments from reviewers and suggestions from editors on this manuscript.

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Authors and Affiliations

  1. The Center of Assisted Reproduction, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, People’s Republic of China

    Xuefeng Gao, Guian Chen, Jing Huang, Quan Bai, Nan Zhao, Minjie Shao, Liping Jiao, Yanling Wei, Liang Chang, Dan Li & Liping Yang

Authors
  1. Xuefeng Gao
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  2. Guian Chen
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  3. Jing Huang
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  8. Yanling Wei
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Corresponding author

Correspondence to Guian Chen.

Additional information

Capsule Investigated the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene.

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Gao, X., Chen, G., Huang, J. et al. Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports. J Assist Reprod Genet 30, 431–435 (2013). https://doi.org/10.1007/s10815-013-9939-7

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  • DOI: https://doi.org/10.1007/s10815-013-9939-7

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