Endocrine Abstracts

Introduction: Measurement of plasma metanephrines (PMETS) is widely regarded as one of the best screening tests for phaeochromocytoma/paraganglioma (P/PGL). Current Endocrine Society guidelines recommend that samples for PMETS are ideally collected in the supine position after 30 min rest and interpreted using supine reference ranges, in order to optimise the diagnostic performance of the test. Current practice in our centre is to collect samples for PMETS from seated patients...

Introduction: MicroRNAs (miRNA) are a novel class of small noncoding single-stranded RNA molecules 18–24 nucleotides long that regulate gene expression at the post-transcriptional level. There is increasing evidence of their importance in polycystic ovary syndrome (PCOS), with their differential expression depending on obesity. There is recent evidence that miRNA-93 and mi-RNA-223 may have a role to play in the modulation of insulin resistance, through GLUT4 modulation in...

We have reviewed the outcome of a low-dose step-up regimen for induction of ovulation in clomiphene-unresponsive women with PCOS and in women with hypothalamic hypogonadism (HH), treated at a single centre. Data from 366 women with PCOS and 80 with HH (1165 records) were entered into a FileMakerPro database, refined and constrained to allow stratification and analysis of relevant data. 85% of cycles were ovulatory in both PCOS and HH. PCOS patients were more likely to have cyc...

Polycystic ovary syndrome (PCOS) is a common endocrinopathy is associated with an adverse metabolic profile including obesity, insulin resistance, and dyslipidaemia. Hyperandrogenism is the hallmark of PCOS and androgen production is increased in the presence of increased adiposity. While a clear link between obesity and the severity of PCOS exists, the relationship between hyperandrogenism and adipose tissue is less clear. Interestingly, women with PCOS and raised androgen le...

Introduction: Despite the commonality of hyponatraemia in everyday clinical medicine it is often a poorly management condition in acute medical patients. A European guideline for diagnosis and management was published in 2014 to address such problems.Aims: To assess the standard of management of patients with hyponatraemia admitted to the medical departments in a rural District General Hospital. To improve investigation, diagnosis, and management of thes...

Childhood onset GH deficiency (CO-GHD) usually presents with aberrant growth. Treatment is recombinant GH (r-GH) to attain target height. The 2005 European Consensus statement on management of CO-CHD at transition indicates that most adolescents will require repeat GH testing at completion of linear growth. Patients with persistent GHD will require continuation of r-GH for wellbeing, optimal body composition and metabolism. However, there is little data supporting predictors o...

Background: Congenital Hyperinsulinism (CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition.Aims: The aim is to use the novel CRISPR/Cas9 gene editing technique to create a KO...

Introduction: Vitamin D deficiency/insufficiency in patients with primary hyperparathyroidism may be associated with more severe and progressive disease. In such patients there is higher levels of parathormone and markers of bone turnover, large parathyroid adenomas and more frequent fractures than vitamin D replete patients.Aims and objectives: To determine whether vitamin D repletion of patients with PHPT and co-existing vitamin D insufficiency or defi...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. However, a familial hyperparathyroid syndrome is diagnosed in less than 5% of cases. We present two related cases of CDC73-related familial hyperparathyroidism due to a rarely described germline Leu63Pro missense mutation in CDC73 exon 2.Case report: The index patient, a 24-year-old female, presented acutely unwell with symptoms of hypercalcaemia. Her blood...

Case history: A 42-year-old female presented to the emergency department with dizziness, vomiting, abdominal pain and thirst. While investigating a 3-month history of lethargy, menstrual irregularity and weight loss, her GP had found a raised TSH, FSH and LH and had prescribed levothyroxine and, 1 week prior to admission, Adcal-D3 supplements. On examination, she was hypotensive and hyperpigmented.Investigations: Na+130 mmol/l (132–144), ...