Lymphedema in Turner syndrome: correlations with phenotype and karyotype

Chijioke Ikomi; Julie Blatt; Simon Ghofrani; Ran Zhang; Judith Ross; Jennifer R. Law

doi:10.1515/jpem-2024-0174

Article

Lymphedema in Turner syndrome: correlations with phenotype and karyotype

Chijioke Ikomi , Julie Blatt , Simon Ghofrani , Ran Zhang , Judith Ross and Jennifer R. Law

Published/Copyright: August 8, 2024

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 9

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.

Keywords: lymphedema; nail changes; renal anomalies; Turner syndrome; webbed neck

Corresponding author: Chijioke Ikomi, MD, Division of Endocrinology, Department of Pediatrics, Nemours Children’s Health, 1600 Rockland Road, Wilmington, DE 19803, USA, E-mail: chijioke.ikomi@nemours.org

Funding source: National Institutes of Health Clinical and Translational Science Award Program

Award Identifier / Grant number: UNC PEDSNet Grant support (UL1TR002489)

Research ethics: Institutional review boards from both centers approved the study under exempt status.
Informed consent: Not applicable.
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.
Competing interests: The authors state no conflicts of interest.
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).
Data availability: The datasets generated and analyzed for this study are not publicly available but are available from the corresponding author on reasonable request.

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Received: 2024-04-12

Accepted: 2024-07-21

Published Online: 2024-08-08

Published in Print: 2024-09-25

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0174

Keywords for this article

lymphedema; nail changes; renal anomalies; Turner syndrome; webbed neck