Turner Syndrome and Liver Dysfunction

A liver surrounded by enzymes and titles the correlation to TS

What Does the Liver Do?

The liver is an organ in the abdomen that is responsible for helping digest food and detoxing the body of waste products. It also has many other functions including the regulation of red blood cells (Lala et al., 2023). The liver plays a vital role in a patient’s overall health.

What is Liver Dysfunction?

When the liver is unable to adequately do its job, it may be referred to as liver dysfunction. Typically, when assessing liver function, your provider will look at the following liver enzymes: alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), and gamma-glutamyl transpeptidase (GGT). An elevation in liver enzymes is often due to inflammation or damage to the liver (Elevated Liver Enzymes, 2024). 

Signs/symptoms of liver damage include:

  • Nausea/vomiting
  • Loss of appetite
  • Fatigue
  • Jaundice (yellow color of skin and eyes)
  • Pain and/or swelling of abdomen
  • Swelling in ankles and legs
  • Dark-colored urine
  • Itching

(AST Test, 2024)

Recent Study on Liver Dysfunction in People with TS

A recent study was done to see if systemic inflammatory markers would be a helpful, noninvasive way to assess liver dysfunction. The study was done at the University Hospital of Nancy in the Department of Endocrinology. Data was collected by reviewing records obtained during regular follow-up visits. The study reviewed a total of 79 patients with Turner syndrome and 100 control participants. A matched-pair analysis was done to control other variables and provide an accurate comparison. 66 patients with TS were matched with 66 control participants according to age and BMI (Zaegel et al., 2024).

Women with TS have been found to have an increased risk of metabolic abnormalities, such as metabolic dysfunction-associated steatotic liver disease (MASLD). Because inflammation has been associated with these metabolic abnormalities (Zaegel et al., 2024), this study looks further into the relation between inflammation and liver dysfunction. 

To see if these inflammatory indices could be a noninvasive indication of liver disease, this study assessed systemic inflammatory markers (ALRI, APRI, GPR, and NLR) in patients with and without Turner syndrome.

Higher Incidence of Liver Dysfunction in People with TS

This study found that there was a greater number of TS patients with liver abnormalities compared to the control participants. 57% of Turner syndrome patients studied were found to have liver dysfunction (Zaegel et al., 2024).

There was also a correlation of a Turner syndrome diagnosis with low bone mineral density and autoimmune thyroiditis. Both of these conditions have been associated with metabolic syndrome, suggesting that systemic inflammation may contribute to metabolic and liver abnormalities in people with TS (Zaegel et al., 2024).

The research showed that systemic inflammatory markers (ALRI, APRI, and GPR) were much higher in TS patients with liver dysfunction compared to TS patients without liver abnormalities. This suggests these indices (ALRI, APRI, and GPR) may be a good indicator of liver dysfunction in people with TS (Zaegel et al., 2024).

Takeaway: What Does This Mean for People with TS?

It has been found that the risk of developing liver abnormalities increases with age (Zaegel et al., 2024). It is important to seek routine follow-up care, and let your provider know if you are concerned about having any liver abnormalities. 

Although future studies are needed to confirm findings, this study suggests that systemic inflammatory markers may be a good, noninvasive option to assess liver function. 

References

ALT Blood Test. (2024). Medlineplus.gov. https://medlineplus.gov/lab-tests/alt-blood-test/

AST Test. (2024). Medlineplus.gov. https://medlineplus.gov/lab-tests/ast-test/

Elevated liver enzymes. (2024). Mayo Clinic. https://www.mayoclinic.org/symptoms/elevated-liver-enzymes/basics/definition/sym-20050830

Lala, V., Zubair, M., & Minter, D. A. (2023, July 30). Liver Function Tests. Nih.gov; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK482489/

Symptoms and causes – Mayo Clinic. (2024). Mayoclinic.org. https://www.mayoclinic.org/diseases-conditions/liver-problems/symptoms-causes/syc-20374502?p=1

Zaegel, N., Rigleta Brahimaj, Shyuefang Battaglia-Hsu, Zohra Lamiral, & Feigerlova, E. (2024). Systemic Inflammatory Indices and Liver Dysfunction in Turner Syndrome Patients: A Retrospective Case-control Study. Journal of the Endocrine Society, 8(7). https://doi.org/10.1210/jendso/bvae099

Written by Samantha Chapman, TSF volunteer blog writer. Edited and designed by Kesha Amin, TSF blog coordinator.

© Turner Syndrome Foundation, 2024

Leave a Comment

Your email address will not be published. Required fields are marked *