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

J Clin Endocrinol Metab. 2023 Mar 10:dgad108. doi: 10.1210/clinem/dgad108. Online ahead of print.


CONTEXT: Liver function abnormalities (LFA) 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 LFA and their respective prevalence, search for their risk factors and evaluate the severity of liver impairment by using a non-invasive fibrosis marker.

DESIGN AND SETTINGS: A monocentric retrospective cross-sectional study.

PATIENTS AND INTERVENTION: Data were collected during a day hospital.

MAIN OUTCOME MEASURES: Liver enzymes (ALT, AST, GGT, ALP), 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 LFA was 42.8%. Its risk factors were age, BMI, 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 LFA between premenopausal patients with natural cycles and those receiving hormone replacement therapy (HRT) (p = 0.063). A multivariate analysis adjusted for age showed no statistically significant correlation between HRT and abnormal GGT levels (p = 0.12).

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.

PMID:36896592 | DOI:10.1210/clinem/dgad108

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