Endocrine Abstracts

Introduction: Turner syndrome (TS) affects 1/1700 female, is due to total/partial lack of an X chromosome and besides short stature and gonadal dysgenesis, is associated with several comorbidities. No defined psychiatric condition has been related to TS. However, several case-reports have appeared in psychiatric literature, and TS is reported to be three times more prevalent in schizophrenia compared with the general female population.Aim: To evaluate th...

Background: Adipocyte and osteoblast derive from the same mesenchimal progenitor. Age-related decrease in bone mass is accompanied by an increase in marrow adipose tissue. Vitamin D3 (VD) inhibits adipogenesis in 3T3-L1 preadipocytes. Recently it has been demonstrated that alendronate (ALN) inhibits adipogenesis while promoting osteoblast differentiation of mesenchimal stem cells.Aim of the study: To evaluate the in vitro role of ALN on 3T3-L1 adi...

Introduction: Abnormal liver function tests (↑LFTs) are frequently observed in Turner’s syndrome (TS), although the aetiology is unclear. Obesity is reported as one of the causes; recently an increased prevalence of elevated GGT was found in TS patients with a ring X karyotype.Aim: To analyse the association between abnormal LFTs and TS-related conditions, and in particular their relationship with the different TS-karyotypes.<p class="abst...

Introduction: Although oocyte donation (OD) is increasingly utilised in women with Turner’s syndrome (TS) few data are available. Reported clinical pregnancy rates following OD range from 17 to 40%. Complications of 2% death from aortic dissection and severe hypertension are reported.Aim: To analyse the OD-pregnancy success rate and materno-fetal outcomes in women followed in a TS-dedicated centre.Methods: A retrospective stud...

Introduction: In neuroendocrine tumours (NETs), the urinary concentration of the serotonin metabolite 5-hydroxyindole acetic acid (5-HIAA) is used to monitor disease progression or treatment response. The sensitivity and specificity in the presence of the carcinoid syndrome are approximately 70 and 90%, respectively. Collecting a 24 hour urine specimen is difficult and inconvenient for patients and increases analytical variability. In addition, serotonin-containing foods may i...

Case Report: A 42 year-old male, with a family history of phaeochromocytomas and paragangliomas, was diagnosed as a carrier of the succinate dehydrogenase subunit-B (SDHB) mutation. He was also diagnosed with macroprolactinoma and treated with cabergoline (currently 250 mcg weekly). A contrast CT chest scan, performed as part of the surveillance program for SDHB-associated tumours, revealed a small right lung lesion, which was found to be OctreoScanTM positive. The ...

Introduction: In patients with neuroendocrine tumours (NETs), the urinary concentration of the serotonin metabolite 5-hydroxyindole acetic acid (5-HIAA) is used to monitor disease progression or response to treatment. The sensitivity and specificity in the presence of the carcinoid syndrome are approximately 70 and 90%, respectively. However, there are problems with the accurate meaurement of a 24-h collection, and this is often inconvenient for patients. In addition, serotoni...

Introduction: Liver involvement is frequent in Turner’s syndrome (TS). We have shown that 35% TS women have elevated liver function tests (↑LFTs). Most common hepatic changes include steatosis and steatohepatitis; however, progression to advanced fibrosis and cirrhosis is reported. This study assessed a simple noninvasive test for liver fibrosis, FIB-4, which combines standard biochemical values (platelets, ALT, AST) and age in order to evaluate its diagnostic perfo...

Introduction: Abnormalities in liver biochemistry are frequent in Turner’s syndrome (TS) with a reported prevalence between 20 and 80%. While their aetiology remains unclear, metabolic factors and intrahepatic biliary disease have been postulated. Moreover, some TS patients have a predominantly cholestatic biochemical abnormality and others a hepatitic picture. Ursodeoxycholic acid (UDCA) has been shown to be a useful treatment of cholestatic disease.<p class="abstext...

Introduction: Elevated liver function tests (↑LFTs) are frequent in Turner’s syndrome (TS), with a prevalence between 20 and 80%, and increases with age. Their pathogenesis and clinical significance is unclear.Objectives: To study the prevalence of ↑LFTs and their relationship with karyotype, anthropometric, metabolic and TS-related conditions: 68 TS women, average age 39 years (range 18–61 years), were reviewed.<p class="abstex...