Endocrine Abstracts

Intravenous Immunoglobin (IVIG) therapy is used in recurrent miscarriage, despite its efficacy being limited to specific sub-groups such as those with underlying immune conditions. The indications, efficacy and side effect profile of IVIG when used in pregnant women are not established. We present the case of a 41-year-old pregnant woman with one previous miscarriage, who had received IVIG as part of her fertility treatment and subsequently developed profound symptoms and bioc...

Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...

Regulators are concerned about the potential for environmental chemicals such as agrochemicals and their metabolites to perturb hormone systems. This has led to recommendations for the testing of potential endocrine disrupting chemicals1. The Steroidogenesis H295R assay is an in vitro cell model used to investigate compound effects on steroid hormone biosynthesis, specifically 17β-estradiol (E2) and testosterone (T). The human H295R adreno-carcinoma ce...

Introduction: Selenium supplementation is recommended for all patients with mild Graves’ orbitopathy (GO). The thyroid gland contains high levels of selenium, which has an anti-oxidant effect and a role in the metabolism of thyroid hormones. The study on which this recommendation is based was conducted in countries of a selenium-deficient region and did not measure subjects’ selenium concentrations. There is therefore no consensus on optimum dose, duration, or safety...

Introduction: Subactue thyroiditis (SAT) is a self-limiting inflammatory condition caused by follicular destruction of the thyroid gland, commonly precipitated by viral upper respiratory tract infection 2 weeks preceding the onset of thyroid symptoms. However, SAT following COVID-19 vaccination is rare. Herein, we report two cases of subacute thyroiditis which presented after administration of COVID-19 vaccine. Case series: The first patient was a 42 yea...

Background: Adrenal Insufficiency (AI) presents a diagnostic and clinical challenge. While short Synacthen Tests (SSTs) are most commonly utilised to diagnose AI, the value of a baseline cortisol is being explored. We aimed to review indications for performing an SST and to determine the baseline cortisol that predicted a preserved cortisol response to Synacthen.Methods: Eight hundred and sixty SSTs performed in 621 individuals at a tertiary endocrinolog...

Autosomal dominant hypoparathyroidism (ADH) is caused by gain-of-function mutations in the calcium-sensing receptor (CaSR), increasing its sensitivity to extracellular calcium, suppressing PTH and resulting in hypocalcaemia. In contrast to idiopathic hypoparathyroidism, treatment to correct serum calcium results in high urine calcium excretion, causing nephrocalcinosis, stones and renal impairment. Unlike surgical hypoparathyroidism where calcium should be maintained, patients...

Background: Neuroendocrine tumours (NETs) are rare malignancies; over 60% of primary lesions arise in the gastrointestinal tract and pancreas. Despite several practice-changing clinical trials, uncertainty persists around the most efficacious treatment sequence in patients with advanced well-differentiated gastroenteropancreatic (GEP) NETs, particularly in relation to peptide receptor radionuclide therapy (PRRT). This study aimed to investigate the progression-free survival (P...

Monogenic diabetes is estimated to account for 1-2% of all diabetes cases diagnosed before the age of 45. It is caused by mutations in genes encoding for beta cell development, function and regulation. We present three cases of monogenic diabetes in pregnancy.Case 1: Age 30, Para 3, White ethnicity. This individual was screened for a GCK mutation at 18 weeks gestation (third pregnancy) on the basis of family history. She required metformin and insulin to...

We present the case of a 53-year-old lady who was recently diagnosed with Type 2 Diabetes, Hypertension and Dyslipidaemia. She was referred by the lipid clinic with a 3-month history of progressive facial swelling, hyperpigmentation and proximal myopathy. Clinical history and examination were highly suspicious of endogenous hypercortisolaemia. An initial overnight dexamethasone suppression test yielded an elevated morning cortisol (752 nmol/l, normal <50nmol/l). Two 24-hou...