The burden of disease for children born alive with Turner syndrome—A European cohort study
Open accessAbstract
BACKGROUND: Turner syndrome is a rare congenital anomaly caused by complete or partial X chromosome monosomy that may affect mortality and morbidity in childhood. METHODS: This population-based data-linkage cohort study, as part of the EUROlinkCAT project, investigated mortality and morbidity for the first 5 years of life for liveborn European children diagnosed with Turner syndrome. Thirteen population-based registries in 10 countries from the European surveillance of congenital anomalies (EUROCAT) network participated. Data on children born 1995-2014 and diagnosed with Turner syndrome were linked to mortality, hospital and prescription records. Children with any congenital anomaly and children without a congenital anomaly were included for comparison on morbidity. RESULTS: Out of a population of 5.8 million livebirths 404 were diagnosed with Turner syndrome prenatally or in infancy and 95.5% survived to their fifth birthday. During the first year of life 72.3% (95% CI 59.5;81.6) of children with Turner syndrome were hospitalized, the median length of stay was 5.6 days (95% CI 3.5;7.7) and 18.7% (95% CI 13.9;23.9) underwent surgery. After the first year of life hospitalizations and length of stay decreased but more children underwent surgery (30.8% [95% CI 17.6;44.7]). In the first 5 years the percentage of children with Turner syndrome having a prescription for antibiotics was 12%-20% per year and increased with the age of child. CONCLUSIONS: In the first year of life, the burden of disease was relatively high for children with Turner syndrome. The outlook is more positive beyond the first year, though overall morbidity still exceeded that of children without congenital anomalies.
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One study suggests that infants with TS were hospitalized more frequently in the first year of life than infants without TS.
“One study suggests that infants with TS were hospitalized more frequently in the first year of life than infants without TS.632”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [632]
In the absence of HLH, the 5-year survival of infants born with TS is ∼95%.
“In the absence of HLH, the 5-year survival of infants born with TS is ∼95%.632,636”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [632]
TS may be associated with a higher infant mortality, with studies reporting 10-16 times greater mortality in infants with TS compared to the general population.
“However, TS may be associated with a higher infant mortality, with studies reporting 10-16 times greater mortality infants with TS compared to the general population.401,632”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [632]
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Cites
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Research works printed but not linked: 2
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
- Authors
- Andersen, A. R., Urhoj, S. K., Tan, J., Cavero‐Carbonell, C., Gatt, M., Gissler, M., Klungsoyr, K., Khoshnood, B., Morris, J., Neville, A. J., Pierini, A., Scanlon, I., de Walle, H. E. K., Wellesley, D., Garne, E., & Loane, M.
- Affiliations
- Lillebaelt Hospital (DK)
- Department of Paediatrics and Adolescent Medicine Lillebaelt Hospital University Hospital of Southern Denmark Kolding Denmark
- St George's, University of London (GB)
- Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (ES)
- Ministry for Health (MT)
- Region Stockholm (SE)
- Department of Global Public Health and Primary Care University of Bergen Bergen Norway
- Inserm (FR)
- University of Ferrara (IT)
- Istituto di Fisiologia Clinica (IT)
- Public Health Wales (GB)
- University of Groningen, University Medical Center Groningen Department of Genetics Groningen the Netherlands
- Princess Anne Hospital (GB)
- University of Ulster (GB)
- Corresponding author
- Garne, Ester
- ORCID
- Venue
- Birth Defects Research
- Publisher
- Wiley
- Published
- 2023-07-26
- Volume
- 115
- Issue
- 16
- Pages
- 1459-1468
- ISSN
- 2472-1727 (ISSN-L)
- OpenAlex
- W4385264895
- Cited by
- 4
- References
- 28
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Birth Defects Research (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by-nc)
- Ulster University Research Portal (Ulster University) (publishedVersion, cc-by-nc)
- St George's Online Research Archive (St George's University of London) (acceptedVersion)
- NORA - Norwegian Open Research Archives (submittedVersion, cc-by-nc)
- UCL Discovery (University College London) (submittedVersion, cc-by-nc)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, cc-by-nc)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, cc-by-nc)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Funders
- Horizon 2020 Framework Programme (733001)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- Turner syndrome, X chromosome monosomy, child morbidity, child mortality, hospitalization, length of hospital stay, surgical treatment, antibiotic prescribing, congenital malformations, EUROCAT
- MeSH terms
- Child, Female, Humans, Pregnancy, Turner Syndrome, Cohort Studies, Cost of Illness, Parturition
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