Hepatic abnormalities in youth with Turner syndrome
Open accessAbstract
BACKGROUND & AIMS: Liver disease in children with Turner Syndrome (TS) is poorly understood relative to associated growth, cardiac and reproductive complications. This study sought to better characterize hepatic abnormalities in a large national cohort of youth with TS. METHODS: Using electronic health record data from PEDSnet institutions, 2145 females with TS were matched to 8580 females without TS on eight demographic variables. Outcomes included liver enzymes (AST and ALT) stratified as normal, 1-2 times above the upper limit of normal (ULN), 2-3 times ULN and >3 times ULN, as well as specific liver disease diagnoses. RESULTS: Fifty-eight percent of youth with TS had elevated liver enzymes. Patients with TS had higher odds of enzymes 1-2 times ULN (OR: 1.7, 95% CI: 1.4-1.9), 2-3 times ULN (OR: 2.7, 95% CI: 1.7-3.3) and >3 times ULN (OR: 1.7, 95% CI: 1.3-2.2). They also had higher odds of any liver diagnosis (OR: 2.4, 95% CI: 1.7-3.3), fatty liver disease (OR: 1.9, 95% CI: 1.1-3.2), hepatitis (OR: 3.7, 95% CI: 1.9-7.1), cirrhosis/fibrosis (OR: 5.8, 95% CI: 1.3-25.0) and liver tumour/malignancy (OR: 4.8, 95% CI: 1.4-17.0). In a multinomial model, age, BMI and presence of cardiovascular disease or diabetes significantly increased the odds of elevated liver enzymes in girls with TS. CONCLUSIONS: Youth with TS have higher odds for elevated liver enzymes and clinically significant liver disease compared with matched controls. These results emphasize the need for clinical screening and additional research into the aetiology and treatment of liver disease in TS. LAY SUMMARY: Turner Syndrome, a chromosomal condition in which females are missing the second sex chromosome, is often associated with short stature, infertility and cardiac complications. Liver abnormalities are less well described in the literature. In this study, nearly 60% of youth with TS have elevated liver enzymes. Furthermore, patients with TS had a diagnosis of liver disease more often than patients without TS. Our results support the importance of early and consistent liver function screening and of additional research to define mechanisms that disrupt liver function in paediatric TS females.
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There is no evidence of liver toxicity from E2 treatment.
“No evidence of liver toxicity”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [343]
Even young children with TS without risk factors have a higher prevalence of LFA.
“Risk factors for LFA are age, obesity, insulin resistance, and Xq isochromosome, however even young children with TS without risk factors have a higher prevalence of LFA.342-344,714,715”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [343]
LFA, defined as increased liver enzymes, are present in 40%-80% of patients with TS, with more recent studies on the high end of that estimate.
“LFA, defined as increased liver enzymes are present in 40%-80% of patients with TS, with more recent studies on the high end of that estimate.342-344,714,715”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [343]
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- Authors
- Singh, I., Noel, G., Barker, J. M., Chatfield, K. C., Furniss, A., Khanna, A. D., Nokoff, N. J., Patel, S., Pyle, L., Nahata, L., Cole, F. S., Ikomi, C., Bamba, V., Fechner, P. Y., & Davis, S. M.
- Affiliations
- Harvard University (US)
- Duke University (US)
- Children's Hospital Colorado (US)
- Adult and Child Consortium for Health Outcomes Research and Delivery Science (ACCORD) University of Colorado Aurora Colorado USA
- University of Colorado Anschutz (US)
- Nationwide Children's Hospital (US)
- St. Louis Children's Hospital (US)
- Nemours Children's Health System (US)
- Children's Hospital of Philadelphia (US)
- University of Washington (US)
- Corresponding author
- Singh, Isani
- ORCID
- Venue
- Liver International
- Publisher
- Wiley
- Published
- 2022-07-16
- Volume
- 42
- Issue
- 10
- Pages
- 2237-2246
- ISSN
- 0106-9543 (ISSN-L)
- 1478-3223
- 1478-3231
- PMC
- PMC9798872
- OpenAlex
- W4283800249
- Cited by
- 18
- References
- 26
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 5 · 2023: 4
- FWCI
- 2.41
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Liver International (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Endocrine Society
- Patient-Centered Outcomes Research Institute (1306‐01556)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Epidemiology › Liver Disease Diagnosis and Treatment
- Health Sciences › Medicine › Surgery › Pediatric Hepatobiliary Diseases and Treatments
- Keywords
- Turner syndrome, hepatic abnormalities, elevated liver enzymes, liver disease, hepatic steatosis, hepatitis, liver cirrhosis, liver fibrosis, liver tumors, malignant liver tumors, cardiovascular disease, diabetes mellitus, body mass index, liver disease screening, PEDSnet, sex chromosome abnormalities, short stature, infertility, cardiac complications, growth disorders, reproductive complications
- MeSH terms
- Adolescent, Child, Female, Humans, Liver Cirrhosis, Liver Diseases, Turner Syndrome, Cohort Studies
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