ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Pediatric Endocrinology
This article is part of the Research TopicUpdate on Differences of Sex Differentiation (DSD)View all articles
Incidence of Miscarriages in Women with Children with 47,XXY, 48,XXXY, or 49,XXXXY
Provisionally accepted
- 1The Focus Foundation, Crofton, United States
- 2St Jude Children's Research Hospital, Memphis, United States
- 3The George Washington University, Washington D.C., United States
- 4Florida International University, Miami, United States
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Purpose: The management and the causes of miscarriages present challenges for the obstetrical community as well as for families. In families who have a child with an X and Y chromosomal disorder, the duress of pregnancy loss may be significantly exacerbated. A greater understanding of these mechanisms would inform medical providers and families of children with 47,XXY, or Klinefelter Syndrome (KS), and variant disorders (48,XXXY and 49,XXXXY). This study investigates miscarriage incidences across a cohort of mothers of males born with these disorders. Methods: Pregnancy history of mothers of males with 47,XXY (KS) or variant disorders was collected. Statistical analyses were performed to determine if these mothers experienced higher incidences of miscarriage than the general population. Results: Mothers reporting miscarriage in the 47,XXY (p=.03, d=0.31) and 48,XXXY (p=.02, d=1.95) groups were significantly older at time of birth than those who did not report miscarriage. When compared to known statistics of miscarriage in the general population, there was a significant increase in the miscarriages in 47,XXY (p=.04, h=0.13), 49,XXXXY (p=.02, h=0.23), and combined groups (p<.01, h=0.15) Conclusion:. Mothers of children with 47,XXY (KS) and variant disorders are at increased risk of miscarriage compared to the general population based on the findings of this study .
Keywords: miscarriage, Sex chromosome aneuploidy, Klinefelter Syndrome, 47,XXY, 48,XXXY, 49,XXXXY
Received: 19 Aug 2025; Accepted: 07 Nov 2025.
Copyright: © 2025 Moser, Olaya, Gropman, Sadeghin and Samango-Sprouse. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Carole Samango-Sprouse, cssprouse@email.gwu.edu
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