Lymphedema in Turner syndrome: correlations with phenotype and karyotype
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Chijioke Ikomi
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Julie Blatt
Abstract
Objectives
Lymphedema (LD) in Turner syndrome (TS) is a commonly reported comorbidity, though its associations with karyotype and other comorbidities are poorly understood. Characteristics of patients with TS and LD, including correlation with phenotype and karyotype, are described.
Methods
Medical records of patients with TS seen in two pediatric institutions from 2002 to 2020 were retrospectively reviewed. Demographic data (age, presentation onset, clinical features, genetics, LD presence, investigations, treatments) were collected.
Results
393 girls with TS with mean age of 12.5 years (SD: 5.7) were identified. LD was noted in 37 % of patients (n=146). Among the 112 patients with TS and documentation of onset of LD, LD was noted within the first year of life in 78.6 % (n=88). 67.6 % (n=96) of total patients with TS and LD had non-mosaic 45, X karyotype. Frequency of webbed neck was significantly greater in girls with TS and LD compared with girls without LD (58 vs. 7 %, p<0.001). Congenital heart anomalies, hypertension, and renal anomalies were also more common in girls with LD. Nail abnormalities with presence of hypoplastic or dysplastic nails were significantly associated with LD (OR: 6.784, 95 % CI 4.235–11.046). The number of girls reporting presence of LD decreased with age.
Conclusions
LD in TS often occurs within the first year of life, is less prevalent in older children and adolescents, and is significantly associated with 45, X karyotype, presence of webbed neck, nail changes, congenital heart anomalies, and renal anomalies.
Funding source: National Institutes of Health Clinical and Translational Science Award Program
Award Identifier / Grant number: UNC PEDSNet Grant support (UL1TR002489)
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Research ethics: Institutional review boards from both centers approved the study under exempt status.
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Informed consent: Not applicable.
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Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission. Individual author contributions: Chijioke Ikomi, Julie Blatt, Judith Ross, and Jennifer Law conceptualized the study. Chijioke Ikomi, Simon Ghofrani, and Jennifer Law carried out data acquisition. Ran Zhang, Chijioke Ikomi, Jennifer Law, Julie Blatt, and Judith Ross conducted the data analysis. Chijioke Ikomi and Jennifer Law drafted the manuscript. All authors critically reviewed and approved the manuscript.
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Competing interests: The authors state no conflicts of interest.
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Research funding: UNC PEDSNet Grant support (UL1TR002489 from the Clinical and Translational Science Award Program of the Division of Research Resources, National Institutes of Health).
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Data availability: The datasets generated and analyzed for this study are not publicly available but are available from the corresponding author on reasonable request.
References
1. Gravholt, CH, Andersen, NH, Conway, GS, Dekkers, OM, Geffner, ME, Klein, KO, et al.., International Turner Syndrome Consensus Group, Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol 2017;177:G1–70. https://doi.org/10.1530/EJE-17-0430.Suche in Google Scholar PubMed
2. Mäkinen, T, Boon, LM, Vikkula, M, Alitalo, K. Lymphatic malformations: genetics, mechanisms and therapeutic strategies. Circ Res 2021;129:36–54. https://doi.org/10.1161/CIRCRESAHA.121.318142.Suche in Google Scholar PubMed
3. Alitalo, K. The lymphatic vasculature in disease. Nat Med 2011;17:1371–80. https://doi.org/10.1038/nm.2545.Suche in Google Scholar PubMed
4. Ogata, T, Matsuo, N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995;95:607–29. https://doi.org/10.1007/BF00209476.Suche in Google Scholar PubMed
5. Bellini, C, Di Battista, E, Boccardo, F, Campisi, C, Villa, G, Taddei, G, et al.. The role of lymphoscintigraphy in the diagnosis of lymphedema in Turner syndrome. Lymphology 2009;42:123–9.Suche in Google Scholar
6. Brouillard, P, Boon, L, Vikkula, M. Genetics of lymphatic anomalies. J Clin Invest 2014;124:898–904. https://doi.org/10.1172/JCI71614.Suche in Google Scholar PubMed PubMed Central
7. Atton, G, Gordon, K, Brice, G, Keeley, V, Riches, K, Ostergaard, P, et al.. The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review. Eur J Hum Genet 2015;23:1634–9. https://doi.org/10.1038/ejhg.2015.41.Suche in Google Scholar PubMed PubMed Central
8. Welsh, J, Todd, M. Incidence and characteristics of lymphedema in Turner’s syndrome. Lymphology 2006;39:152–3.Suche in Google Scholar
9. Rothbauer, J, Driver, S, Callender, L. Describing lymphedema in females with Turner syndrome. Lymphology 2015;48:139–52.Suche in Google Scholar
10. Carvalho, AB, Lemos-Marini, SHV, Guerra-Junior, G, Maciel-Guerra, AT. Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience. J Pediatr Endocrinol Metab 2018;31:167–73. https://doi.org/10.1515/jpem-2017-0273.Suche in Google Scholar PubMed
11. Lowenstein, EJ, Kim, KH, Glick, SA. Turner’s syndrome in dermatology. J Am Acad Dermatol 2004;50:767–76. https://doi.org/10.1016/j.jaad.2003.07.031.Suche in Google Scholar PubMed
12. Rodriguez-Buritica, D, Mones, M, Prakash, SK, Rivera, M, Aldrich, M, Rogge, M, et al.. Dermatological concerns for women and girls with turner syndrome. Front Med 2023;10:1235187. https://doi.org/10.3389/fmed.2023.1235187.Suche in Google Scholar PubMed PubMed Central
13. Harris, PA, Taylor, R, Thielke, R, Payne, J, Gonzalez, N, Conde, JG. Research electronic data capture (REDCap) – a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inf 2009;42:377–81. https://doi.org/10.1016/j.jbi.2008.08.010.Suche in Google Scholar PubMed PubMed Central
14. Harris, PA, Taylor, R, Minor, BL, Elliott, V, Fernandez, M, O’Neal, L, et al.., REDCap Consortium, The REDCap consortium: building an international community of software platform partners. J Biomed Inf 2019;95:103208. https://doi.org/10.1016/j.jbi.2019.103208.Suche in Google Scholar PubMed PubMed Central
15. R Core Team. R: a language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2017. https://www.R-project.org/.Suche in Google Scholar
16. Pollard, TJ, Johnson, AEW, Raffa, JD, Mark, RG. tableone: an open source Python package for producing summary statistics for research papers. JAMIA Open 2018;9:26–31. https://doi.org/10.1093/jamiaopen/ooy012.Suche in Google Scholar PubMed PubMed Central
17. Posit Team. RStudio: integrated development environment for R. Posit Software. Boston, MA: PBC; 2023. http://www.posit.co/.Suche in Google Scholar
18. Kluyver, T, Ragan-Kelley, B, Fernando, P, Granger, B, Bussonnier, M, Frederic, J, et al.., Jupyter Development Team, Jupyter Notebooks – a publishing format for reproducible computational workflows. In: Loizides, F, Schmidt, B, editors. Positioning and power in academic publishing: players, agents and agendas. Amsterdam: IOS Press; 2016:pp. 87–90 pp. .Suche in Google Scholar
19. Wickham, H, Averick, M, Bryan, J, Chang, W, McGowan, LD, François, R, et al.. Welcome to the tidyverse. J Open Source Softw 2019;4:1686. https://doi.org/10.21105/joss.01686.Suche in Google Scholar
20. Document, C. The diagnosis and treatment of peripheral lymphedema: 2020 consensus document of the International Society of Lymphology. Lymphology 2020;53:3–19. https://doi.org/10.2458/lymph.4649.Suche in Google Scholar
21. Salehi, BP, Sibley, RC, Friedman, R, Kim, G, Singhal, D, Loening, AM, et al.. MRI of lymphedema. J Magn Reson Imag 2023;57:977–91. https://doi.org/10.1002/jmri.28496.Suche in Google Scholar PubMed PubMed Central
22. Dori, Y, Smith, C, Pinto, E, Snyder, K, March, ME, Hakonarson, H, et al.. Severe lymphatic disorder resolved with MEK inhibition in a patient with Noonan syndrome and SOS1 mutation. Pediatrics 2020;146:e20200167. https://doi.org/10.1542/peds.2020-0167.Suche in Google Scholar PubMed
© 2024 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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- Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic
- Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus
- Diagnostic utility of the average peak LH levels measured during GnRH stimulation test
- Growth pattern, growth deceleration, and relevant predictors in girls treated with GnRHa: a retrospective longitudinal study
- Lymphedema in Turner syndrome: correlations with phenotype and karyotype
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic
- Urinary biomarkers NG AL and beta-2 microglobulin in children with type 1 diabetes mellitus
- Diagnostic utility of the average peak LH levels measured during GnRH stimulation test
- Growth pattern, growth deceleration, and relevant predictors in girls treated with GnRHa: a retrospective longitudinal study
- Lymphedema in Turner syndrome: correlations with phenotype and karyotype
- Children and adolescents with differentiated thyroid cancer from 1998 to 2018: a retrospective analysis
- Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment?
- Applicability of the External Genitalia Score (EGS) in Indian neonates and children up to 2 years of age
- Case Reports
- New perspectives for the treatment and follow-up of glycogen storage disease type V: DL-3-hydroxybutyric acid with modified Atkins diet and quadriceps femoris shear wave elastography
- Thyroid abscess associated with transient hyperthyroidism in an adolescent girl: a rare case report and review of the literature
- Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
- A novel variant of the STAR gene: nonclassical presentation from Turkey
