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...

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...

Introduction: Women with Turner syndrome (TS) have an increased risk of aortic dissection. Aortic dilatation, bicuspid aortic valve (BAV) and hypertension confer increased risk of dissection. However, only some women with these risk factors develop dissection, and others with no risk markers may dissect. Knowledge of the development of the aortopathy over time is limited. We investigate aortic dimension changes in unselected adult TS and associations between aortic growth and ...