Searchable abstracts of presentations at key conferences in endocrinology

ea0077lb9 | Late Breaking | SFEBES2021

Oncogenic osteomalacia: a rare cause of hypophosphataemia

Farrow Alexander , Talla Maria

Background: Oncogenic osteomalacia is a paraneoplastic syndrome that occurs in the context of an FGF23 secreting tumour. We describe a case of a 42 year old gentleman who presented with this rare cause of hypophosphataemia.Clinical Case: This gentleman presented with a history of multiple fragility fractures, and generalised bone and muscular pain. His biochemistry showed: serum phosphate 0.52 mmol/l (reference range 0.80-1.50 mmol/l), adjusted calcium 2...

ea0055wh11 | Workshop H: Miscellaneous endocrine and metabolic disorders | SFEEU2018

Pancreatic Neuroendocrine tumor - would you recognise it?

Silveira Maria , Wotherspoon Fiona

Pancreatic neuroendocrine tumors are rare neoplasms of this organ. The majority of them are tumors without hormonal activity. Approximately 35% of the pancreatic neuroendocrine tumors (pNETs) are functional, the most common of which is an insulinoma. We present a 57 year old lady with dyspepsia, nausea and Fe deficiency anaemia for more then a year. On examination had a epigastric mass, endoscopy was consistent with a well differentiated endocrine grade 2 tumor. Octeotide scan...

ea0081mtebs1 | Extracellular vesicles as theranostic tools in metabolic and cardiovascular diseases | ECE2022

Extracellular vesicles in cardiometabolic disorders: from waste product to reliable disease biomarkers

Brizzi Maria Felice

Circulating extracellular vesicles (EVs) are nano-sized bilayer membrane particles mainly released by platelets, inflammatory, endothelial cells and cancer cells, which play a pivotal role in inter-cellular communication. EV cargo, which consists of RNAs, proteins, DNA, and lipids, reflects the cell of origin and its activation state and the microenvironment; for this reason, it can be used as source of potential biomarkers in several conditions related to tumour development/p...

ea0081mte1 | Personalized therapy in acromegaly | ECE2022

Personalized therapy in acromegaly

Zatelli Maria Chiara

Personalized medicine aims at providing indications concerning the management of each patient according to her/his specific needs and disease characteristics. Acromegaly, although a rare disease, has a profound impact on patients’ quality and expectancy of life, due to increased morbidity and mortality as compared to the general population in correlation mainly due to cardiovascular disease and cancer. Several clinical variables have been investigated as predictors of res...

ea0085p35 | Miscellaneous 1 | BSPED2022

A Perfect storm: multisystem endocrine disorders in a girl with T21

Iatan Maria , Grace Mariana

Introduction: Down Syndrome is the commonest genetic disorder with a frequency of 1 in 700 births. Amongst many features associated with this condition, autoimmune and non-autoimmune endocrine disorders are some of the commonest manifestations. We present the case of a child with Down Syndrome with multiple autoimmune endocrine disorders and discuss the challenges she will face in her management as well as upon transition to adult services.Case Report: A...

ea0086oc1.3 | Bone and Calcium | SFEBES2022

X-linked osteoporosis caused by a novel c.892-2A>G plastin 3 (PLS3) splice variant

Connelly Paul , Talla Maria

A 24-year-old male was referred to endocrinology with multiple severe atraumatic vertebral fractures. In the preceding 10 years the patient had experienced a bimalleolar ankle fracture and numerous metacarpal and metatarsal breakages unrelated to trauma. There was no family history of osteoporosis and examination did not reveal any abnormalities in scleral colour, stature, dentition or facial/thoracic morphology. Dual-energy x-ray absorptiometry demonstrated severe densitometr...

ea0086p24 | Adrenal and Cardiovascular | SFEBES2022

A Case of Pheochromocytoma with Haematuria

Nair Vidya , Silveira Maria

Introduction: Pheochromocytomas are rare neuroendocrine tumours from catecholamine producing chromaffin tissue of adrenal medulla that typically present with headache, palpitations, diaphoresis, and paroxysmal hypertension. Here we describe a case of pheochromocytoma presenting as haematuria. There are case reports of paraganglioma of urinary bladder with haematuria. In our case no bladder lesion was identified but close follow up is needed for recurrence and bladder involveme...

ea0090ap4 | European Hormone Medal Award Lecture | ECE2023

The Parathyroid Hormone Saga: A Never Ending Story

Brandi Maria Luisa

Just before the turning of the 20th century a detailed series of connected events led to the understanding of the physiology, pathophysiology, chemical synthesis, cellular and molecular biology, and pharmacological use of parathyroid hormone (PTH) in the next 120 years. Thanks to scientists like Fuller Albright, Gerald D. Aurbach, John T. Potts, Karen K. Winer, Thomas J. Gardella, and many others, huge progress has been made over the decades through biotechnological advances t...

ea0091wa2 | Workshop A: Disorders of the hypothalamus and pituitary | SFEEU2023

Giant prolactinoma requiring surgery

Omer Maria , Panicker Janki

35-year-old lady, has a background of Hypertension, oophorectomies for ovarian cancer and previous 2 IVF attempts, referred to endocrinology with three-week history of blurred vision, bitemporal hemianopia and large pituitary mass on MRI Upon assessment, she reported visual disturbance and intermittent headache. She has no periods which is expected with the history of oophorectomy, but she denied galactorrhoea or any symptoms suggestive of pituitary hormone excess or deficienc...

ea0091wc7 | Workshop C: Disorders of the thyroid gland | SFEEU2023

A case of confusion secondary to grave’s thyrotoxicosis, missed TFT’s and diagnosis on first presentation lead to patient representing with impending thyroid storm

Burri Sushma , Silveira Maria

History: 72 yr. Female, Initially presented to A&E with new confusion and speech disturbance. NEWS of 7- RR 22, sats- 98% on RA, BP 162/107, HR-124, and T- 37. AMTS- 7/10. PMH: depression, previous dysphasia, Medication: Amitriptyline, Omeprazole.Investigations: FBC, UE, LFT, CRP, Cholesterol levels, urine dip Normal and CT head – normal. ECG – Sinus tachycardia. Observations improved and no obvious cause found for confusion patient was dis...