Endocrine Abstracts

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...

Introduction: T2DM (type 2 diabetes mellitus) appears to worsen the course of NAFLD (Non-Alcoholic Fatty Liver Disease) and NAFLD can make diabetes management more challenging. Long-term, NAFLD can lead to liver fibrosis, steatohepatitis, cirrhosis, and end-stage liver disease. This study aimed to examine factors associated with NAFLD measures in early T2DM.Methods: Subjects (n=144) with early T2DM (<=3 years) and obesity (BMI>=27 kg/m<s...

Background: Testosterone replacement is the mainstay of treatment for male hypogonadism. The most commonly reported adverse event in testosterone trials is polycythaemia. This study assessed the prevalence of polycythaemia in males receiving testosterone replacement and compared prevalence rates between different treatment preparations.Methods: 216 men were included in this retrospective observational study conducted from January 2009 to December 2012. 1...

Background: Bardet Biedl syndrome (BBS) is a rare autosomal recessive disorder caused by ciliary dysfunction. It is characterised by rod cone dystrophy, polydactyly, renal dysfunction, cognitive impairment. Endocrine consequences are thought to include hypogonadism, obesity and polyuria. However little is known about the endocrine and metabolic abnormalities in adult patients.Methods: One hundred and fifty-four patients with BBS were identified through t...

Sunitinib, a tyrosine kinase inhibitor, inhibits VEGF-mediated tumour angiogenesis. Following NICE approval, it is increasingly used in the treatment of metastatic renal cell carcinoma.Hypothyroidism in sunitinib-treated individuals was first described in 2005. The aetiology remains uncertain and possibly reflects a destructive thyroiditis. Incidence rates of hypothyroidism from case series vary between 36 and 85%. We report a retrospective analysis of t...

A 30-year-old lady was transferred to our hospital at 37 weeks of pregnancy. Hypertension was noted at 24 weeks of gestation and managed with methyldopa and labetalol. Despite treatment, BP was labile with a systolic of 90–220 and diastolic of 50–129 mmHg. She reported occasional palpitations but not chest pain or shortness of breath. The patient had a history of migrainous headaches but not hypertension prior to pregnancy. Her brother had previously had an operation...

A 36-year-old man was referred to the neurologists for leg weakness and pain, fatigue and lethargy for 2 years. Sarcoidosis was diagnosed 6 years previously, on the basis of uveitis, lower motor neurone facial palsy, hilar lymphadenopathy and transbronchial biopsy. Prednisolone had been discontinued 3 years prior to his current presentation.His blood pressure was 99/71. Examination was otherwise unremarkable. His ACE was 109 U/l (10–70). His TSH was...

Relaxin-3 is a newly discovered member of the insulin superfamily. It is expressed in the nucleus incertus (NI) of the brainstem which has projections to the hypothalamus. Relaxin-3 binds with high affinity to the G-protein-coupled receptors RXFP1 and RXFP3. RXFP3 is expressed predominantly in the CNS, and in particular within the hypothalamic paraventricular nucleus (PVN). The physiological function of relaxin-3 is unknown but recent work suggests it may play a role in appeti...

Mutations in the RET gene are responsible for Multiple Endocrine Neoplasia type 2A (MEN2A), characterised by Medullary Thyroid Carcinoma (MTC) and Pheochromocytoma (PCC). It is well recognised that there is a genotype-phenotype correlation regarding likelihood of endocrine tumour development. The American Thyroid Association (ATA) has published predictive grading to guide clinical management of patients with RET mutations.Aim: In this study, we aim to as...

IntroductionParagangliomas (PGLs) are neuroendocrine tumours that arise from neural crest-derived chromaffin cells. They can develop anywhere these cells exist from the base of the skull to the pelvis. All PGLs have neuro-secretory potential and can produce symptoms due to catecholamine excess. While the majority are benign they do have malignant potential. Mediastinal PGLs are rare and often have a strong genetic predisposition. A higher proportion of t...