Endocrine Abstracts

Introduction: Liver function test abnormalities (LFA) are common in patients with Turner syndrome (TS). The etiopathogenesis of this complication remains unclear, probably being multifaceted. Metabolic syndrome, generalized vasculopathy, and autoimmunity have been proposed as possible causal mechanisms.

Objectives: - To describe the prevalence and possible related factors of morpho-functional liver abnormalities in TS adult patients. - To evaluate the utility of hepatic elastometry in optimizing the diagnostic work-up of TS patients with LFA.

Materials and Methods: 98 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), aspartate-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: 61 patients (62,2%) had at least one LFA, GGT being the most frequent (60,2%). No cases of cirrhosis were observed; the prevalence of fibrosis was 8,1% (n=8). Patients with LFA (LFA-TS) showed significantly higher BMI, waist circumference, and waist-to-height ratio than patients with normal liver enzymes (NLE-TS) (P=0.042, P=0.008, P=0.004 respectively). Liver stiffness measurements (LSM) and liver fibrosis prevalence did not differ between the two groups; steatosis was the only morphological parameter significantly more prevalent in LFA-TS (P=0.035). LFA-TS showed significantly higher fasting glucose (P=0.010) and HbA1c levels (P<0.001) and more frequently had a diagnosis of hypertriglyceridemia (P=0.041). In LFA-TS, the diameter of the Valsalva sinuses was significantly wider than in NLE-TS (P=0.034), whereas there was a similar tendency in ascending aortic diameter, without reaching significance (P=0.068). No significant difference was detected regarding structural cardiovascular abnormalities, autoimmunity, menstrual cycle history, type of EP therapy, estrogen dosage, and history of GH therapy between the two groups.

Conclusions: LFA are highly prevalent in adult TS women; this complication seems particularly related to metabolic abnormalities, making its management pivotal in this rare disease. A relation with aortic dilation seems plausible, in the context of a possible generalized vasculopathy: further studies are needed to investigate this finding. Finally, given the presence of liver fibrosis also in NLE-TS, the sole presence of LFAs is not able to discriminate whether liver elastometry should be performed in TS patients.