Elevated Liver Enzymes in Turner Syndrome: The Role of Low-grade Inflammation and Hormonal Imbalances

Turner syndrome (TS) is a chromosomal disorder in females characterized by the partial or complete absence of 1 X chromosome. Women with TS face a higher risk of liver disease, elevated enzymes and fibrosis, potentially linked to inflammation, and hormonal imbalances, though the cause remains unclear.

This paper investigates the associations between liver parameters, inflammatory markers, and hormonal factors in women with TS compared with age-matched female controls.

We included 82 women with TS and 59 female controls. Participants underwent clinical examinations, anthropometric measurements, and fasting biochemical assessments of liver enzymes ( γ-glutamyl transferase [GGT], aspartate aminotransferase [AST], alanine aminotransferase [ALT], FIB-4), inflammatory markers (C-reactive protein [CRP], soluble CD163 [sCD163]), sex hormones, and 11-oxygenated C19 steroids. We also assessed myeloperoxidase (MPO) and neutrophil elastase gene expression levels and performed FibroScan and dual-energy X-ray absorptiometry.

Women with TS had higher levels of liver enzymes (GGT, AST, ALT) and FIB-4 than controls (P < .001, all). The inflammatory markers CRP and sCD163 were both correlated with elevated liver parameters in women with TS. Hormonal variables such as 11β-hydroxytestosterone levels, were also associated with elevated liver enzymes in women with TS. The neutrophil activation marker MPO was elevated in TS and correlated with liver parameters and sCD163.

Women with TS have elevated liver enzymes associated with low-grade chronic inflammation and hormonal imbalances. These findings highlight the importance of regular monitoring of liver function, inflammatory markers, and hormonal levels in women with TS to enable early intervention and potentially improve clinical outcomes.