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Cited by 8Liver Disease Diagnosis and TreatmentGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesLiver Disease and Transplantation

Focus on liver function abnormalities in patients with Turner syndrome: risk factors and evaluation of fibrosis risk

Bourcigaux, Nathalie, Dubost, Emma, Buzzi, Jean-Claude, Donadille, Bruno, Corpechot, Christophe, Poujol-Robert, Armelle, Christin-Maitre, Sophie·2023·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/clinem/dgad108
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Abstract

CONTEXT: Liver function abnormalities (LFAs) have been described in patients with Turner syndrome (TS). Although a high risk of cirrhosis has been reported, there is a need to assess the severity of liver damage in a large cohort of adult patients with TS. OBJECTIVE: Evaluate the types of LFAs and their respective prevalence, search for their risk factors, and evaluate the severity of liver impairment by using a noninvasive fibrosis marker. METHODS: This was a monocentric retrospective cross-sectional study. Data were collected during a day hospital visit. The main outcome measures were liver enzymes (alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase), FIB-4 score, liver ultrasound imaging, elastography, and liver biopsies, when available. RESULTS: 264 patients with TS were evaluated at a mean age of 31.15 ± 11.48 years. The overall prevalence of LFAs was 42.8%. The risk factors were age, body mass index, insulin resistance, and an X isochromosome (Xq). The mean FIB-4 sore of the entire cohort was 0.67 ± 0.41. Less than 10% of patients were at risk of developing fibrosis. Cirrhosis was observed in 2/19 liver biopsies. There was no significant difference in the prevalence of LFAs between premenopausal patients with natural cycles and those receiving hormone replacement therapy (P = .063). A multivariate analysis adjusted for age showed no statistically significant correlation between hormone replacement therapy and abnormal gamma-glutamyl transferase levels (P = .12). CONCLUSION: Patients with TS have a high prevalence of LFA. However, 10% are at high risk of developing fibrosis. The FIB-4 score is useful and should be part of the routine screening strategy. Longitudinal studies and better interactions with hepatologists should improve our knowledge of liver disease in patients with TS.

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Crossref · 10.1210/clinem/dgad108

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  • 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 [715]

  • Recent studies suggest that FIB-4 scores are lower than expected in patients with TS, possibly reflecting that liver diseases are mild in most cases.

    “Recent studies suggest that FIB-4 scores are lower than expected in patients with TS,714,715 possibly reflecting that liver diseases are mild in most cases.”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [715]

  • 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 [715]

  • Risk factors for LFA in TS are age, obesity, insulin resistance, and Xq isochromosome.

    “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 [715]

  • A recent study has shown that there is no difference in the prevalence of LFA between women with TS who have endogenous ovarian function compared to those receiving HRT.

    “A recent study has shown that there is no difference in the prevalence of LFA between women with TS who have endogenous ovarian function compared to those receiving HRT.715”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [715]

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Authors
Bourcigaux, N., Dubost, E., Buzzi, J.-C., Donadille, B., Corpechot, C., Poujol-Robert, A., & Christin-Maitre, S.
Affiliations
  • Sorbonne Université (FR)
  • Assistance Publique – Hôpitaux de Paris (FR)
  • Inserm (FR)
  • Department of Hepatology, Reference Center for Inflammatory Biliary Diseases and Autoimmune Hepatitis (MIVB-H), French Network for Rare Liver Diseases in Children and Adults FILFOIE, European Reference Network (ERN) RARE-LIVER, Saint-Antoine Hospital & Research Center, Assistance Publique—Hôpitaux de Paris (APHP), Inserm & Sorbonne University , 75011 Paris , France
  • Endocrine and Reproductive Medicine Unit, Center of Rare Endocrine Diseases of Growth and Development (CMERCD), FIRENDO, Endo ERN Hôpital Saint-Antoine, Sorbonne University , Assistance Publique–Hôpitaux de Paris, 75012 Paris , France
Corresponding author
Bourcigaux, Nathalie
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2023-03-10
Volume
108
Issue
9
Pages
2255-2261
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/clinem/dgad108
OpenAlex
W4323808234
Cited by
8
References
33
Citations by year
2026: 1 · 2025: 5 · 2024: 2
FWCI
1.60
Type
journal article
Language
en
Open access
closed
Licence
academic.oup.com/pages/standard-publication-reuse-rights (vor)
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Epidemiology › Liver Disease Diagnosis and Treatment
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Health Sciences › Medicine › Hepatology › Liver Disease and Transplantation
Keywords
Turner syndrome, liver dysfunction, liver fibrosis, liver cirrhosis, FIB-4, non-invasive fibrosis markers, liver enzymes, gamma-glutamyl transferase, insulin resistance, hormone replacement therapy, liver ultrasound elastography, liver biopsy, risk factors
MeSH terms
Adult, Cross-Sectional Studies, gamma-Glutamyltransferase, Humans, Liver, Liver Cirrhosis, Liver Diseases, Retrospective Studies, Risk Factors, Turner Syndrome, Young Adult

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