Liver biochemical abnormalities in Turner syndrome: a comprehensive characterization of an adult population
Abstract
OBJECTIVE: Abnormal liver function tests (LFTs) are frequent in Turner syndrome (TS). The causes and clinical significance are unclear. AIMS: To investigate the prevalence of elevated LFTs in adult TS; secondly, to analyse the associations between elevated LFTs, TS-karyotypes and TS-related conditions; and thirdly, to evaluate liver stiffness and histological assessment. METHODS: A total of 125 TS women were retrospectively studied. Karyotypes, clinical and biochemical details and aortic measurements were recorded. Fibroscan and liver biopsy results were noted. RESULTS: Elevated LFTs were found in 49.6%: gamma-glutamyltransferase (GGT) in 88.7%, ALK in 45.2%, ALT in 40.3% and AST in 29%. A FIB-4 index >1.3 was found in 11.8%. Women with isochromosome of the X long arm, iso[X](q), had a higher prevalence of elevated LFTs. A lower prevalence of abnormal GGT was found in patients with 45,X/46,XX, 45,X/47,XXX or 45,X/46,XX/47,XXX. Subjects with raised GGT were older, shorter and more likely to have higher triglyceride levels. There was no association with HRT duration after adjusting for age. Among patients with elevated aminotransferases, no differences were noted, except for higher HDL-cholesterol levels. The sinuses and ascending aorta diameter were greater in the elevated LFTs group. Fibroscan was suggestive of significant liver fibrosis in 38.1%. Among 11 biopsies, liver architectural changes were reported in 45.4%, including two with cirrhosis. CONCLUSIONS: Elevated LFTs in TS are common and important to detect given the possible progression towards severe liver disease. An association between raised LFTs and karyotype iso[X]q was demonstrated. We have also shown a new association between abnormal LFTs and aortic dilatation.
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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 [714]
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 [714]
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“The reported frequency of elevated LFT activity in TS patients ranges from 20 to 80%, with the highest proportion in older patients (3,4,5,6,27,28).”
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- Authors
- Calanchini, M., Moolla, A., Tomlinson, J. W., Cobbold, J. F., Grossman, A., Fabbri, A., & Turner, H. E.
- Affiliations
- University of Rome Tor Vergata (IT)
- Churchill Hospital (GB)
- Oxford University Hospitals NHS Trust (GB)
- Corresponding author
- Calanchini, Matilde
- ORCID
- Venue
- Clinical Endocrinology
- Publisher
- Wiley
- Published
- 2018-08-19
- Volume
- 89
- Issue
- 5
- Pages
- 667-676
- ISSN
- 0300-0664 (ISSN-L)
- 1365-2265
- OpenAlex
- W2864700608
- Cited by
- 41
- References
- 36
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 9 · 2023: 5 · 2022: 4 · 2021: 4 · 2020: 1 · 2019: 5
- FWCI
- 1.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Cineca Institutional Research Information System (Tor Vergata University) (submittedVersion)
- Funders
- National Institute for Health Research
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- Turner syndrome, liver function tests, elevated liver enzymes, gamma-glutamyl transferase, transaminases, liver fibrosis, liver stiffness, liver histopathology, isochromosome Xq, karyotype, aortic dilatation, triglycerides, hormone replacement therapy, liver disease progression
- MeSH terms
- Adolescent, Adult, Aged, Biopsy, Female, Humans, Karyotyping, Liver, Liver Diseases, Middle Aged, Retrospective Studies, Turner Syndrome, Young Adult, Karyotype
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