Endocrine Abstracts

Background: We have previously reported abnormal liver function tests (LFTs), FIB-4 scores and liver stiffness measurements (LSM, Fibroscan) in patients with Turner syndrome (TS), but longitudinal data defining the impact of TS on liver phenotype are limited.

Methods: We undertook a retrospective longitudinal follow-up audit (OUH; 8348) of 24 women with TS who had abnormal LFTs and underwent at least 2 assessments (median age at baseline 43 years, range 20+/-64). Biochemical measurements (ALT/AST/GGT) and LSM were collected. FIB-4 scores <1.3 were indicative of a low risk of advanced fibrosis; scores >2.67 indicated a high risk of advanced fibrosis. LSM >8kPa indicated significant fibrosis, and >13kPa was suggestive of cirrhosis.

Results: After 4.5+/-1.4 years observation period, in those women with normal AST and ALT at baseline, 53% (8/15) and 50% (5/10) respectively became abnormal, subsequently re-normalising in 3 and 2. In those with baseline abnormal transaminases, 2/7 and 4/12 were normal at follow-up. GGT measurements showed less fluctuation; one patient normalising. Considering FIB-4 scores, 11/20 women remained in the low-risk category, while 3 became indeterminate (comorbidity/drug related), and 3 initially considered indeterminate normalised. Fifteen women had a new Fibroscan after a period of 4.6+/-1.8 years. 13% (2/15) showed LSM suggesting significant fibrosis, including one with LSM >13kPa. Among 14 women who had available LSM measurements at baseline and follow-up, most improved (71%, 10/14): 79% (11) remained below the LSM cut-off of 8kPa, two entered the low-risk and the one with the high LSM measurement improved from 13.9 to 9.4kPa.

Conclusion: Fluctuations in aminotransferases and non-invasive scores (FIB-4) are common in patients with TS. Reassuringly, LSM showed no significant fibrosis in the majority (87%) of patients and no progression to high risk categories. Further longitudinal analysis of liver phenotype in patients with TS in larger cohorts is now warranted.