Endocrine Abstracts

Recruitment to research studies to meet sample quality, size, and power requirements may be challenging, with underrepresentation of specific gender, age or ethnic groups being a common source of bias within research. Social media are defined as web-based applications that enable creation and exchange of user generated content. Facebook, one of the most renowned social networking interfaces currently has 1.44 billion users worldwide, and cross-sectional studies of user demogra...

Aims: MEN1 is characterised by parathyroid, pituitary and pancreatic tumours in association with neoplasia of intra-thoracic endocrine tissue, adrenal glands and cutaneous manifestations. Mutations of the tumour suppressor Menin are causative and affected patients possess heterozygous germline mutations in MEN1, with acquisition of a second hit in the wild-type allele initiating tumourigenesis. Phenotype–genotype correlations can provide insights into the molecular functi...

We report five cases of hyperthyroidism with complex management issues, which were successfully treated with iopanoic acid prior to thyroidectomy.Three patients (cases 1–3) had Graves’ disease; two developed agranulocytosis on carbimazole and one had uncontrolled severe thyrotoxicosis and poor compliance with treatment. Radioiodine was either declined or contraindicated due to radio-protection issues. All patients were rendered euthyroid with i...

Background: Phosphatidylinositol-3-kinase (PI3K) is a critical mediator of insulin action, and influences cellular growth, survival and metabolism. Recently, somatic gain-of-function mutations in the p110α catalytic subunit of PI3K (PIK3CA) have been found in a spectrum of overgrowth disorders, outlining the possibility of treatment with inhibitors of the PI3K–AKT–mTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...

Congenital hyperinsulinaemic hypoglycaemia is generally characterised by low levels of ketone bodies, fatty acids and branched chain amino acids at the time of severe hypoglycaemia, and by a requirement for a relatively high rate of glucose infusion (>10 mg/kg per min) to maintain euglycaemia. It is caused by physiologically inappropriate insulin secretion from the pancreatic beta cells due to mutations that uncouple insulin secretion from normal hyperglycaemic and other s...

Introduction: We recently reported cases of segmental overgrowth due to mosaic heterozygous activating mutations in the p110α catalytic subunit of PI3K. The index case presented with life-long, massive overgrowth of both legs with a lean upper body. Mobility was threatened by continued growth. mTORC1 inhibition has been effective at slowing excess growth due to loss of PTEN function, a negative regulator of PI3K. We hypothesised that mTORC1 inhibition would also be effect...

Aim: To review the presentation, management and outcomes in adult patients with MEN1 attending a multidisciplinary clinic.Methods: Case notes and electronic records were reviewed in patients attending a tertiary centre clinic for care of MEN1.Results: Forty-eight patients were analysed; 46% were male and 54% female. Mean age was 49 years (range 14–89) and 4% were deceased. Eighty-five percent had confirmed MEN1 mutations and 2...