Endocrine Abstracts

JOINT3512

Introduction: Abnormalities in liver function tests (LFA) are frequent in Turner syndrome (TS); nonetheless, the etiopathogenesis of this complication remains unclear, probably being multifaceted. Several potential mechanisms have been suggested, including metabolic syndrome, generalized vasculopathy and autoimmunity.

Objectives: Describe the possible etiopathogenetic factors of LFA in adult patients with TS

M&M: 120 adult TS patients, regularly followed-up at our Unit, underwent liver elastometry (FibroScan: Echosens, Paris, France) and hepato-splenic ultrasound. Blood samples were obtained to analyze liver enzymes and other metabolic parameters. Alanino-aminotransferase(ALT), asparate-aminotransferase(AST), gamma-glutamyil-transferase(GGT) and alkaline-phosphatase(ALP) were considered abnormal(LFA) when above 1xULN. Data were retrospectively collected regarding metabolic complications, autoimmune diseases, menstrual history, and hormonal replacement therapies (GH and estrogen-progestin therapy). The presence of structural cardiovascular anomalies and the diameter of the first aortic tract were assessed by retrieving the latest cardiac examination (cardiac MRI and/or transthoracic echocardiography).

Results: 74 patients (61. 6%) had at least one LFA, GGT being the most frequent (57. 5%). The prevalence of fibrosis was 6. 7% (n = 8). Patients with LFA (LFA-TS) showed significantly higher age, BMI, waist circumference (WC) and waist-to-height ratio than patients with normal liver enzymes (NLE-TS) (P = 0. 008, P = 0. 046, P = 0. 005, P = 0. 002 respectively). Steatosis was significantly more prevalent in LFA-TS (36. 5% vs 13% in NLE-TS P = 0. 005). With respect to NLE-TS, LFA-TS showed significantly higher levels of fasting glucose, HbA1c, and total cholesterol (P = 0. 001, P < 0. 001, P = 0. 042, respectively) and were more frequently diagnosed with arterial hypertension and metabolic syndrome (P = 0. 018, P = 0. 049). In LFA-TS patients, the diameter of the Valsalva sinuses and the initial aortic segment, as well as the aorta/height index (AHI), were significantly higher compared to NLE-TS patients (P = 0. 045, P = 0. 032, P = 0. 025, respectively). No significant differences were detected in all other variables analyzed (structural cardiovascular abnormalities, autoimmunity, menstrual cycle history, therapies). Performing forward multiple logistic regression analysis, abnormal GGT levels were significantly associated with higher age and WC (OR=1. 061, 95CI:1. 02-1. 11, P = 0. 005; OR=1. 038, 95CI=1. 01-1. 07, P = 0. 016 respectively), abnormal ALT with higher WC and HbA1c (OR=1. 042, 95CI:1. 01-1. 08, P = 0. 018; OR=1. 190, 95CI=1. 08-1. 3, P < 0. 001 respectively), and abnormal AST with higher HbA1c (OR=1. 131, 95CI=1. 04-1. 23, P = 0. 005)

Conclusions: LFA are highly prevalent in adult TS women; this complication seems tightly related to visceral adiposity and metabolic abnormalities, making their management pivotal in this rare disease. A relation with aortic dilation seems plausible, in the context of a possible generalized vasculopathy: further large-scale studies are needed to clarify and explore this finding in greater depth.