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Monochorionic dizygotic twins with discordant sex and confined blood chimerism

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Abstract

Monochorionic (MC) pregnancy in humans is usually considered to be associated only with monozygotic twinning. However, several reports have revealed that dizygotic (DZ) twins can also share a chorion during pregnancy. A chimera is defined as an organism that contains different cells derived from two or more distinct zygotes. As artificial reproductive techniques develop, it can be predicted that the occurrence of MC DZ twins will increase, and DNA-fingerprinting methods, such as short tandem repeat (STR) analysis, will be essential for their accurate diagnosis. We report the first Korean case of MC DZ twins with blood chimerism, 46,XX/46,XY, as a consequence of in vitro fertilization/embryo transfer. The clinical phenotypes of the twins’ genitalia were complete female and male, respectively. Monochorionicity was confirmed by pathological analysis of the placenta after delivery. The dizygosity and confined blood chimerism of the twins were confirmed by STR analysis using their peripheral lymphocytes and skin fibroblasts. The confined blood chimerism of the twins can be considered similar to the status of the hematopoietic system in patients after allogenic bone marrow transplantation. Conclusion: When MC twins with discordant sex are expected during pregnancy, it is important to consider the possibility of DZ twins showing normal sexual development, especially in twins who were fertilized using artificial reproductive techniques.

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Abbreviations

ART:

Artificial reproductive technique

AMH:

Anti-Müllerian hormone

DA:

Diamniotic

DSD:

Disorder of sex development

DZ:

Dizygotic

IVF-ET:

In vitro fertilization/embryo transfer

MC:

Monochorionic

STR:

Short tandem repeat

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Acknowledgments

This study was supported by grant no. NRF-2012R1A1A3001588 from the Korean Ministry of Science, ICT and Future Planning.

Conflict of interest

All authors indicate that there is nothing to declare.

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Authors and Affiliations

  1. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 110-769, South Korea

    Hye Jin Lee, Sung Chul Yoon & Jung Min Ko

  2. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea

    Moon Woo Seong & Sung Sup Park

  3. Institute of Reproductive Medicine and Population Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea

    Jin Sun Choi & Sun Kyung Oh

Authors
  1. Hye Jin Lee
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  2. Sung Chul Yoon
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  3. Jung Min Ko
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  4. Moon Woo Seong
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  5. Sung Sup Park
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  6. Jin Sun Choi
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  7. Sun Kyung Oh
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Corresponding author

Correspondence to Jung Min Ko.

Additional information

Communicated by Beat Steinmann

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Lee, H.J., Yoon, S.C., Ko, J.M. et al. Monochorionic dizygotic twins with discordant sex and confined blood chimerism. Eur J Pediatr 173, 1249–1252 (2014). https://doi.org/10.1007/s00431-014-2312-8

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  • DOI: https://doi.org/10.1007/s00431-014-2312-8

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