Endocrine Abstracts

65-year-old lady presents to GP with 3-month history of fatigue, weight loss and nausea with background of stable Chronic Lymphocytic Leukaemia (CLL). GP started Levothyroxine 25 mg OD due to low T4 of 5.9 pmol/l (12-22) and low TSH of 0.25 mU/l (0.27-4.2). As she continued to feel tired, random cortisol was requested which was low at 25nmol/l leading to admission. Admission cortisol was 55nmol/l with an inappropriately normal ACTH of 11.6 ng/l (7.2-63.3). Pituitary profile sh...

ApoB isoforms are components of the chylomicron, and of the atherogenic LDL and Lp(a) particles. Ex26 is exceptionally long at 7.57kb as most exons are <500bp. Ex26 is also the site of RNA editing, which generates the ApoB48 isoform instead of ApoB100. The first 3kb of ex26 contains 15 sequences matching the splice site consensus, which could be used in splicing, but are not. Splice sites matching the consensus but which are not used are called pseudosites. How the spliceos...

Background: Mutations in succinate dehydrogense-B (SDH-B) or von Hippel Lindau (VHL) genes can result in chromaffin tumours.Objective: To compare the clinical phenotypes of subjects developing chromaffin tumours as a result of SDH-B or VHL mutations.Subjects: Thirty-one subjects with chromaffin tumours. Sixteen subjects had SDH-B gene mutations and 15 subjects had a diagnosis of VHL.<p ...

Introduction: All stages of diabetic nephropathy are independent risk factors for cardiovascular disease in patients with diabetes. Intensive intervention to achieve target glycaemic control, blood pressure and cholesterol can minimise cardiovascular risk, mainly by reducing proteinuria.Aims: To compare two cohorts of patients, group A, attending a nurse-led clinic in addition to the traditional diabetes renal clinic and group B attending the latter only...

B-type natriuretic peptide (BNP) is a hormone secreted from the heart in response to volume load and serves clinically as a reliable biomarker in the diagnosis of cardiac dysfunction and heart failure. As patients with heart failure present an increased risk for developing diabetes, we aimed to investigate the role of BNP on parameters of glucose metabolism in a placebo-controlled crossover study performed in 10 healthy volunteers (25±1 years; BMI 23±1 kg/m2</su...

Mitogenic signaling by receptor tyrosine kinases that involve increased activity of phosphatidylinositol-3-kinase (PI3K) and over-activation of protein kinase B (PKB/Akt) triggers a cascade of responses that drive tumour progression in a variety of human cancers. Some of these events have been associated with diminished expression of the cell cycle inhibitor p27 through inhibition of a Forkhead transcription factor (FKHR-L1) by Akt, while some others have recently been reporte...

Background: Phaeochromocytomas and paragangliomas are familial in up to 25% of cases and can result from succinate dehydrogenase (SDH) gene mutations.Objective: To describe the clinical manifestations of subjects with SDH-B gene mutations.Design: Retrospective case series.Patients: Thirty-two subjects with SDH-B gene mutations followed-up between 1975 and 2007. Mean follow-up of 5.8 years (S.D....

Introduction: Family hypobetalipoproteinemia (HBF) is a rare genetic disorder, in 50% of cases are due to mutations APOB gene, which leads to decreased values of total cholesterol, low density lipoprotein (LDL-cholesterol) and apo-B. It is inherited as an autosomal dominant and heterozygous carriers are usually asymptomatic.Clinical case: Thirty-two-year-old male with abdominal pain and diarrhea associated with food, no relevant history and physical exam...

: We report the case of a 57-year-old female diagnosed with Grave’s disease fifteen years before (TSH <0.001 U/ml; FT4 2.3 ng/dl; FT3 7.2 ng/dl, TSAbs 17 U/l). Persistency of hyperthyroidism despite antithyroid therapy led to total thyroidectomy three years after the diagnosis. Thereafter, thyroid function remained normal under hormonal replacement with levothyroxine. The patient had also been diagnosed with Pernicious Anemia at 47 years of age after investigation for...

Aim: In this study, we aimed to evaluate ABO blood groups and Rh factor in patients with thyroid cancer. We also assessed whether the ABO/Rh factor had any effect on prognosis, agressive features and advanced stage of thyroid malignancies.Methods: Medical records of patients who underwent thyroidectomy between December 2006 and September 2014 were evaluated retrospectively. Demographical and clinical features, cytological results (according to Bethesda c...