Focus on Liver Function Abnormalities in Patients With Turner Syndrome: Risk Factors and Evaluation of Fibrosis Risk

J Clin Endocrinol Metab. 2023 Aug 18;108(9):2255-2261. doi: 10.1210/clinem/dgad108.

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.

Keywords: Turner syndrome; hormone replacement therapy; liver enzymes; liver fibrosis; primary ovarian insufficiency; steatosis.

MeSH terms

  • Adult
  • Cross-Sectional Studies
  • Humans
  • Liver / pathology
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / epidemiology
  • Liver Cirrhosis / etiology
  • Liver Diseases* / epidemiology
  • Retrospective Studies
  • Risk Factors
  • Turner Syndrome* / complications
  • Turner Syndrome* / epidemiology
  • Turner Syndrome* / pathology
  • Young Adult
  • gamma-Glutamyltransferase

Substances

  • gamma-Glutamyltransferase