Endocrine Abstracts

Background: Plasma normetanephrine levels are an annual screening tool for detecting paragangliomas in SDHB mutation carriers. Sensitivity is increased when patients are fasting and recumbent prior to phlebotomy, to allow use of age-adjusted reference ranges rather than the 1180 pmol/l upper limit for ambulatory patients of any age. We present our clinic’s results of samples taken after 30 minutes of recumbency to determine if applying age-adjusted ranges...

Background: Branched-chain amino acids (BCAA) are elevated in morbid obesity and decreases significantly following bariatric surgery. This decrease is associated with the post-surgical improvement in insulin resistance (IR) and may be secondary to the reduction in BCAA flux from proteolysis or an increase in BCAA catabolism. Presently, the underlying mechanism is unclear.Aim: To investigate the changes in BCAA metabolism in morbidly obese individuals fol...

Mutations in each of the 4 subunits of succinate dehydrogenase (SDH) – SDHA, B, C and D predispose to development of phaeochromocytomas and paragangliomas. Loss of SDH function leads to accumulation of succinate which acts as an oncometabolite to drive tumourigenesis. However, mutations in SDHB have an increased likelihood of causing metastatic disease, compared to mutations in the other SDH subunits. The reasons behind this increased risk remai...

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

Introduction: Neuroendocrine tumours (NETs) have diverse natural history and clinical syndromes. As a result of the disease or related to management, patients may have altered gut or pancreatic function that can cause nutritional deficiencies. There is a lack of consistent evidence-based dietetic guidance for patients with NETs.Aim: This study evaluated whether nutritional status and nutritional deficiencies had been assessed in patients with NETs in an ...

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

A 26-year-old Caucasian female presented at 14 weeks gestation with a 6-week history of lethargy, nausea and vomiting during her first pregnancy. Her adjusted Calcium was 4.12 mmol/l and parathyroid hormone (PTH) 26 pmol/l, consistent with possible primary hyperparathyroidism. She was previously well apart from occasional migraines. There was no known history of familial hypercalcaemia or MEN. Other biochemistry results revealed hypokalaemia of 3.2 mmol/l, low vitamin D at 16 ...

A 68-year-old woman presented with a several month history of nausea, confusion and generalised weakness. In addition, she reported decreased appetite with significant weight loss. She did not report any convulsions, abdominal pain, palpitations, or diarrhoea. Significant past medical history included well-controlled T2DM, hypertension, vitamin D deficiency and GI reflux disease. Importantly, she had no history of renal disease. Relevant medications incl...

We present a case of a 56 year-old man diagnosed with systemic mastocytosis by the dermatologists on presentation with classical skin lesions, confirmatory bone marrow biopsy and a tryptase level 105 ug/L (NR 2-14). Further genetic testing confirmed KIT D816V mutation. DEXA bone densitometry at diagnosis revealed marked osteoporosis (Lumbar T score -3.7 (Z -3.5), Femoral Neck T score of -2.0 (Z -1.1). He had no history of low trauma fracture and no relev...

A 68-year-old woman presented with a several month history of nausea, confusion and generalised weakness. In addition, she reported decreased appetite with significant weight loss. She did not report any convulsions, abdominal pain, palpitations, or diarrhoea. Significant past medical history included well-controlled T2DM, hypertension, vitamin D deficiency and GI reflux disease. Importantly, she had no history of renal disease. Relevant medications incl...