Eur J Pediatr DOI 10.1007/s00431-014-2312-8
SHORT COMMUNICATION
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
Received: 19 January 2014 / Revised: 23 March 2014 / Accepted: 25 March 2014 # Springer-Verlag Berlin Heidelberg 2014
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 Communicated by Beat Steinmann H. J. Lee : S. C. Yoon : J. M. Ko (*) 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 e-mail: [email protected] H. J. Lee e-mail: [email protected] S. C. Yoon e-mail: [email protected] M. W. Seong : S. S. Park Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea M. W. Seong e-mail: [email protected] S. S. Park e-mail: [email protected] J. S. Choi : S. K. Oh Institute of Reproductive Medicine and Population Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea
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
J. S. Choi e-mail: [email protected]
Introduction
S. K. Oh e-mail: [email protected]
Chimerism occurs when an organism contains cells derived from two or more distinct zygotes [4]. It was first observed in
Eur J Pediatr
bovine twins with discordant sex, and it is thought to be a common phenomenon in cattle. In humans, blood chimerism is observed after allogenic bone marrow transplantation, in which bone marrow and host cells exist compatibly without signs of graft-versus-host reaction. However, chimerism in monochorionic (MC) dizygotic (DZ) twins is a newly reported phenomenon in humans, the health implications of which remain largely unknown [4]. Conventionally, MC pregnancy in humans is considered to be associated only with monozygotic (MZ) twinning [3]. However, after a case of MC DZ twins with blood chimerism was proven cytogenetically and pathologically in 2003 [12], several reports have revealed that DZ twins can also share a common chorion during pregnancy [1, 5, 6, 11]. Most of MC DZ cases exhibited chimerism confined to the blood of both twins. As these conditions are extremely rare in natural conceptions, they have been almost exclusively reported in twins born from artificial reproductive techniques (ARTs), such as in vitro fertilization/embryo transfer (IVF-ET) [11]. In this report, we present the first Korean case of MC DZ twins with blood lymphocyte chimerism, 46,XX/46,XY, as a consequence of IVF-ET. Phenotypically, the twins exhibited complete female and male genitalia, without any sexual ambiguity. Cytogenetic and molecular genetic analysis using their blood leukocytes and skin fibroblasts confirmed the dizygosity of the twins, with confined blood chimerism. Case description
Twin 2 was born with a birth weight of 2,340 g (
SHORT COMMUNICATION
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
Received: 19 January 2014 / Revised: 23 March 2014 / Accepted: 25 March 2014 # Springer-Verlag Berlin Heidelberg 2014
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 Communicated by Beat Steinmann H. J. Lee : S. C. Yoon : J. M. Ko (*) 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 e-mail: [email protected] H. J. Lee e-mail: [email protected] S. C. Yoon e-mail: [email protected] M. W. Seong : S. S. Park Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, South Korea M. W. Seong e-mail: [email protected] S. S. Park e-mail: [email protected] J. S. Choi : S. K. Oh Institute of Reproductive Medicine and Population Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea
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
J. S. Choi e-mail: [email protected]
Introduction
S. K. Oh e-mail: [email protected]
Chimerism occurs when an organism contains cells derived from two or more distinct zygotes [4]. It was first observed in
Eur J Pediatr
bovine twins with discordant sex, and it is thought to be a common phenomenon in cattle. In humans, blood chimerism is observed after allogenic bone marrow transplantation, in which bone marrow and host cells exist compatibly without signs of graft-versus-host reaction. However, chimerism in monochorionic (MC) dizygotic (DZ) twins is a newly reported phenomenon in humans, the health implications of which remain largely unknown [4]. Conventionally, MC pregnancy in humans is considered to be associated only with monozygotic (MZ) twinning [3]. However, after a case of MC DZ twins with blood chimerism was proven cytogenetically and pathologically in 2003 [12], several reports have revealed that DZ twins can also share a common chorion during pregnancy [1, 5, 6, 11]. Most of MC DZ cases exhibited chimerism confined to the blood of both twins. As these conditions are extremely rare in natural conceptions, they have been almost exclusively reported in twins born from artificial reproductive techniques (ARTs), such as in vitro fertilization/embryo transfer (IVF-ET) [11]. In this report, we present the first Korean case of MC DZ twins with blood lymphocyte chimerism, 46,XX/46,XY, as a consequence of IVF-ET. Phenotypically, the twins exhibited complete female and male genitalia, without any sexual ambiguity. Cytogenetic and molecular genetic analysis using their blood leukocytes and skin fibroblasts confirmed the dizygosity of the twins, with confined blood chimerism. Case description
Twin 2 was born with a birth weight of 2,340 g (
