Endocrine Abstracts

Guidelines for the use of Growth Hormone (GH) replacement in adults with GH deficiency (GHD) were published by the National Institute for Clinical Excellence (NICE) in 2003. We undertook an audit to ensure that patients attending our adult endocrinology clinic were being prescribed GH in accordance with NICE guidelines.Patients commenced on GH replacement between June 2004 and June 2005 were included in the audit. Data was collected from medical notes, a...

Radioiodine (RAI) is widely used for the treatment of thyrotoxicosis. The efficacy and hypothyroidism rate following a single dose of RAI is variable and the optimum administered dose – sufficient to achieve remission but with an acceptable low hypothyroidism rate, is still debated.Our audit sought to compare the results of local practice with published rates of success and hypothyroidism following RAI. We also examined the relationship between trea...

Candidate gene approaches have identified loss of heterozygosity (LOH) at putative tumour suppressor gene (TSG) loci in sporadic pituitary tumours. This study reports a high-resolution genome wide allelotyping in a large cohort of somatotrophinomas and non-functioning pituitary adenomas (NFA). Samples were first subjected to whole genome amplification by primer extension amplification (PEP) to circumvent limitation imposed by insufficient DNA for the whole genome analysis with...

Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. Aim of this audit was to assess clinical, biochemical parameters, localisation modalities and outcome in patients undergoing parathyroidectomy at University College London Hospital (UCLH).Methods: We audited all patients aged 15-years or above, undergoing parathyroidectomy, from 01-02-2018 to 31-12-2021 at UCLH via retrospective data collectio...

Peptide receptor radionuclide therapy (PRRT) is a targeted therapy using synthetic somatostatin analogues attached to a radionuclide, which binds to tumours expressing somatostatin receptors. The aim was to review the role of PRRT in a tertiary referral centre. We retrospectively reviewed a cohort of 25 patients (eight males, 17 females), with a median age of 65, who received Yttrium-90 DOTATATE or Lutetium-177 DOTATATE at Addenbrookes Hospital. The location of the primary tum...

Context: Pancreatic neuroendocrine tumours (NETs) overexpressing glucagon are associated with phenotypic heterogeneity. Objective: To correlate clinical phenotype with detailed analysis of plasma levels of proglucagon-derived peptides (PGDPs) in subjects with proglucagon-expressing tumours using specific immunoassays and gel filtration profiles to elaborate molecular heterogeneity of PGDPs, before and after somatostatin analogues.Case 1: A 57 year old wo...

Congenital hypogonadotropic hypogonadism (CHH (MIM161110)) due to GnRH deficiency is a rare genetic disorder (affects ~1/30 000) characterised by abnormal pubertal development and infertility. Over 60% cases have anosmia (Kallmann syndrome) and some exhibit additional phenotypes. CHH is a genetically heterogeneous developmental disease. Most cases present sporadically, although familial forms (AD, AR, and X-linked) with incomplete penetrance and variable expressivity occur. Re...

Glucokinase (GCK) serves as the blood glucose ‘sensor’ in pancreatic β-cells, being critically involved in transducing elevated blood glucose into increased insulin secretion. Inactivating GCK mutations cause a subtype of maturity onset diabetes of the young (MODY), whereas activating mutations are a rare cause of hyperinsulinaemic hypoglycaemia, usually presenting in infancy.We now describe the case of a 60-year-old woman who first presen...

Background: Acquired male secondary hypogonadism is a relatively common cause of referral to the endocrine clinic. However, the extent to which further investigation is required, and the indications for a trial of testosterone therapy, remain unclear. Aim To review the clinical/biochemical/radiological findings in men presenting with this condition.Methods: We performed a retrospective case analysis of 41 consecutive patients referred to our clinic over ...

Background: Adrenal incidentalomas (AI) are identified in 4–7% of patients >40 years undergoing abdominal CT/MRI. Evidence of subclinical autonomous glucocorticoid hypersecretion (SAGH) is found in 5–10% of cases depending on the diagnostic criteria/thresholds adopted.Aim: To examine the utility of basal DHEAS measurement in the detection of SAGH in a cohort of patients with AI.Methods: Ninety-six consecutive subjects...