Endocrine Abstracts

Aims: Elevated liver function tests (↑LFTs) are frequent in Turner’s Syndrome (TS). The cause and clinical significance are unclear. The aim of this study was to analyse the association between ↑LFTs and a comprehensive panel of TS-related conditions, focusing on metabolic and cardiovascular diseases in order to further elucidate the pathophysiological mechanisms underlying this condition.

Methods: We reviewed our adult TS cohort. LFTs were collected, along with karyoptype, anthropometric, metabolic and TS-related diseases and treatments. Ascending aorta diameters, measured with echocardiography and cardiac MR, were analyzed.

Results: We analysed data from 104 women with TS (45X0 44/104), mean age 36y (±46SD), height 149.5 (±7.8SD) cm, weight 62.1 (±14.6) Kg and BMI 28.3 (±7SD) kg/m². Liver enzymes were elevated in 35 (34%) patients, with a duration of 7y (±6.2SD) and age at the first finding of ↑LFTs 34y (±12.9SD). The most frequently abnormality was a raised GGT in 91% of cases; ↑ALT and ALP were found in 40%. Significant differences between the ↑LFTs-group and the normal-LFTs-group were found for age (P=0.01), HRT duration (P=0.004), Tot-Chol (P=0.009) and LDL-Chol (P=0.011). Adjusting for age, HRT-duration was not significantly different between the two groups. No differences were noted analysing karyotype, anthropometric values, HbA1c, and history of diabetes, hypertension, congenital heart abnormalities or autoimmunity. Ascending aorta diameter was significantly greater in the ↑LFTs-group (P=0.002). Liver biopsy was performed in six women with ↑LFTs: one normal, two nonalcoholic fatty-liver, one non-specific hepatitis, one mild fibrosis and one cirrhosis.

Conclusions: This study shows – first, ↑LFTs in TS are common and important to detect given the high prevalence at a young age and possible progression towards advanced fibrosis; secondly, a relationship between ↑LFTs and aortic dilatation was found, suggesting that liver involvement may be associated with a primary vascular process; thirdly, we suggest that HRT can be safely continued in TS women with ↑LFTs.