European Journal of Pediatrics

, Volume 173, Issue 9, pp 1249–1252

Monochorionic dizygotic twins with discordant sex and confined blood chimerism

  • Hye Jin Lee
  • Sung Chul Yoon
  • Jung Min Ko
  • Moon Woo Seong
  • Sung Sup Park
  • Jin Sun Choi
  • Sun Kyung Oh
Short Communication

DOI: 10.1007/s00431-014-2312-8

Cite this article as:
Lee, H.J., Yoon, S.C., Ko, J.M. et al. Eur J Pediatr (2014) 173: 1249. doi:10.1007/s00431-014-2312-8

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.

Keywords

Monochorionic dizygotic twin Discordant sex Chimerism In vitro fertilization Assisted reproductive technology 

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

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Hye Jin Lee
    • 1
  • Sung Chul Yoon
    • 1
  • Jung Min Ko
    • 1
  • Moon Woo Seong
    • 2
  • Sung Sup Park
    • 2
  • Jin Sun Choi
    • 3
  • Sun Kyung Oh
    • 3
  1. 1.Department of PediatricsSeoul National University Children’s Hospital, Seoul National University College of MedicineSeoulSouth Korea
  2. 2.Department of Laboratory MedicineSeoul National University College of MedicineSeoulSouth Korea
  3. 3.Institute of Reproductive Medicine and Population Medical Research CenterSeoul National University College of MedicineSeoulSouth Korea

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