Fibroscan: a new noninvasive method for evaluation of liver dysfunction in Turner syndrome

Background: Raised liver enzyme value is frequently detected in patients with Turner syndrome (TS), but its clinical importance is still unclear.

Objective: To investigate the entity of liver involvement in TS and to avoid the invasiveness of liver biopsy, we planned to measure liver stiffness by transient elastography (TE).

Design: Cross-sectional study.

Patients and methods: Twenty-five consecutive patients with TS and a chronological age ≥ 12·5 years (mean age = 21·7 years), full pubertal development and final height's achievement were enrolled and investigated by blood biochemical analyses [glucose, insulin, aspartate-aminotransferase (AST), alanine-aminotransferase (ALT), gamma-glutamil transferase (GGT), alkaline phosphatase, cholesterol, triglyceride, HDL-cholesterol], ultrasonography and TE of the liver.

Results: Of 25, 7 subjects (28%) showed liver enzyme levels higher than the normal upper limit. Mean liver stiffness value in the entire study group was 4·5 ± 1·7 kPa, being significantly higher in patients with abnormal liver enzymes than in those with normal liver biochemistry (6·0 ± 2·9 vs. 4·0 ± 0·9, P < 0·05). Strong correlations were found between TE values and ALT (P < 0·005), GGT (P < 0·0001), Body mass index (P < 0·05), HOMA index (P < 0·05), HDL-cholesterol (P < 0·05) and triglycerides (P < 0·0001).

Conclusions: We can assert that (i) liver stiffness, measured by TE, strongly correlates with liver enzyme levels in patients with TS ; (ii) the increased liver stiffness in patients with TS with biochemical signs of liver dysfunction is significantly related to metabolic syndrome parameters; (iii) TE may be an useful tool to select among patients with TS with elevated liver enzymes or other metabolic risk factors, those who deserve more invasive diagnostic procedures, namely liver biopsy, for the best characterisation of liver damage.