Searchable abstracts of presentations at key conferences in endocrinology

ea0013p60 | Clinical practice/governance and case reports | SFEBES2007

Short Synacthen Test (Standard and Low dose): Do we need multiple cortisol samples?

Kela Ram , Tahrani Abd , Varughese George , Clayton R , Hanna FWF

Aim: This study was aimed to assess the need for multiple cortisol samples in ruling out adrenal insufficiency by standard dose Short Synacthen Tests (SST) and Low Dose Short Synacthen Tests (LDSST).Method: We assessed the lab results of 767 patients who attended Metabolic Unit of a University Hospital in the UK from 1999 to 2006 for assessment of adrenal reserve. In LDSST, serum cortisol was measured at 0, 30 and 40 min after administration of 1 mcg of ...

ea0013p267 | Steroids | SFEBES2007

Identification of a novel, point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor-α (hGRα) gene and molecular characterization of the mutant receptor hGRαF737L

Charmandari Evangelia , Kino Tomoshige , Ichijo Takamasa , Zachman Keith , Chrousos George

Background: Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in ACTH and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We identified a new case of glucocorticoid resistance caused by a novel, heterozygous point mutation at nucleotide position 2209 (T → C) of the hGRα gene, resulting in phenylalan...

ea0013p305 | Thyroid | SFEBES2007

Seaweed as a model for iodide accumulation and storage

Cloughley George , Emma Burbridge , Kraan Stefan , Keegan Noel , Smyth PPA

Seaweeds share properties with the mammalian thyroid and other iodide concentrating organs in that they take up iodide from surrounding seawater and internalise it within cells. The previously demonstrated high iodine concentration within seaweeds prompted a study of accumulation and retention of 125I and its location within the plants. Seaweed discs (1 cm3) cut from members of the red, green and brown phyla which were incubated at 4C in seawater spiked w...

ea0056p106 | Clinical case reports - Pituitary/Adrenal | ECE2018

Cushing’s syndrome in a patient with systemic lupus erythematosus

Kostoglou-Athanassiou Ifigenia , Spiliotis George , Athanassiou Lambros , Myriokefalitakis Ioannis

Introduction: Systemic lupus erythematosus is a systemic autoimmune disease, which often necessitates the administration of corticosteroids for its treatment. Cushing’s syndrome is a disorder characterized by the endogenous hypersecretion of cortisol.Aim: The aim was to describe the case of a patient who had systemic lupus erythematosus, was on therapy with corticosteroids and developed Cushing’s syndrome.Case description...

ea0056p912 | Female Reproduction | ECE2018

Presence of antiphospholipid antibodies is associated with increased failure rates of assisted reproductive techniques: a meta-analysis

Boutzios Georgios , Papadimitriou Eirini , Mathioudakis Alexandros , Vlachoyiannopoulos Panayiotis , Mastorakos George

Introduction: The presence of antiphospholipid antibodies is associated pathogenically with thrombotic vascular events and resulting pregnancy complications. Studies support that antiphospholipid antibodies (aPL) impair female fertility by interfering with endometrial decidualization and implantation. This meta-analysis aims to determine the prevalence of aPL in women undergoing assisted reproductive techniques (ART) for in Vitro Fertilization and Embryo Transfer (IVF-ET)....

ea0094op2.4 | Metabolism, Obesity and Diabetes | SFEBES2023

iPSC-derived hepatocytes as a novel tool for Ornithine Transcarbamylase Deficiency (OTCD) modelling and drug screening

Lukasiak Magdalena , Kiloh George , Robinson Chloe , Nikolaou Nikolaos

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD) with a prevalence of one in 60-70,000 in humans. It is mainly caused by mutations in the OTC gene, which encodes the enzyme ornithine transcarbamylase. Patients with OTCD present disturbed urea cycle function and ammonia accumulation in the bloodstream, downstream leading to a range of symptoms, including developmental delay, cerebral oedema, coma, and death. We developed a human...

ea0094op3.3 | Reproductive Endocrinology | SFEBES2023

Characterisation of a novel N terminally FLAG-tagged FSHR knock in mouse model to understand the physiological roles of FSHR oligomerisation

Hopkins Thomas , Johnson Gillian , Sureshkumar Sumetha , Bousfield George , Jonas Kim

The G protein-coupled receptor (GPCR), follicle stimulating hormone receptor (FSHR) plays a critical role in ovarian function and reproduction, with multiple functions in follicle growth, maturation, survival, and steroid hormone production. Yet how FSH/FSHR mediates these pleiotrophic physiological roles remains unknown. Numerous studies indicate GPCRs can regulate and diversify their actions through receptor-receptor association and the formation of dimers/oligomers. Moreove...

ea0094p195 | Bone and Calcium | SFEBES2023

A case of Severe hypercalcemia secondary to Milk-Alkali syndrome:

Nagarajah Kalyani , Panagiotou Grigorios , George Lindsay , Evans Marc

Milk – alkali syndrome is a rare and distinctive disorder caused by ingestion of large amounts of calcium and absorbable alkali resulting in hypercalcemia. It is characterized by a triad of hypercalcemia, metabolic alkalosis and renal failure. Here we present a 59 years old female patient, who presented to Emergency department for a fall and Syncopal episode. She had a few days history of increasing thirst, polyuria and diffuse abdominal discomfort. This prior to her sync...

ea0094p332 | Bone and Calcium | SFEBES2023

A Rare presentation of a common Endocrine Disorder: Grave’s Thyrotoxicosis induced severe symptomatic Hypercalcemia

Sohail Sara , Foka Anna , Murphy Noel , Farah George

Introduction: Hypercalcemia has wide spectrum of diagnosis. Hyperthyroidism is known cause of parathyroid hormone independent cause of hypercalcemia. Increased osteoclast activity with excess bone resorption is underlying cause. Thyrotoxicosis associated hypercalcemia is usually asymptomatic, mild to moderate hypercalcemia is seen in 20% of patients, but severe hypercalcemia is rare. We report a case of young male who presented with abdominal pain, vomiting se...

ea0081p256 | Late-Breaking | ECE2022

Hobnail variant of papillary thyroid carcinoma, a systematic review and meta-analysis

Spyroglou Ariadni , Kostopoulos George , Bramis Konstantinos , Tseleni Sofia , Toulis Konstantinos , Mastorakos George , Konstadoulakis Manousos , Vamvakidis Kyriakos , Alexandraki Krystallenia

Background: Although papillary thyroid carcinoma (PTC) is considered to have an excellent prognosis, some more aggressive variants have been identified that show reduced overall survival rates. Besides from the diffuse sclerosing, tall cell, columnar cell, and solid variant, the hobnail variant was newly recognized as one of these aggressive forms, affecting recurrence, metastasis, and overall survival rates.Methods: We performed a systematic review and ...