Searchable abstracts of presentations at key conferences in endocrinology

ea0059p064 | Clinical biochemistry | SFEBES2018

Gitelman Syndrome (GS) is a rare, salt-losing tubulopathy. Prevalence 1 in 40,000 higher in Asia. GS is an autosomal recessively inherited disease with a wide clinical spectrum, usually seen in adolescents and adults. It is reported that function loss develops in the sodium chloride cotransporter system in the distal renal tubule as the result of SLC12A3 gene mutation

Silveira Maria

GS, Patients have hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria together with normal blood pressure. Most of the patients are clinically asymptomatic, but some patients experience seizures, muscle weakness, cramps, episodic tetany, and paresthesia. The diagnosis is usually made based on clinical features and laboratory blood test. In this study we present a young patient with persistent hypokalaemia. She feels well in herself. She denies any symptoms of h...

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...

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...

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...

ea0035p159 | Calcium and Vitamin D metabolism | ECE2014

Hypercalcaemia presenting as hyperemesis gravidarum in a pregnant patient

Mlawa Gideon , Silveira Maria

Background: Primary hyperparathyroidism during pregnancy is rare, and may present with symptoms non-specific to hypercalcaemia.Case: A 35 years old 12/40 weeks pregnant lady presented to accident and emergency department with 6 weeks history of nausea and vomiting. On admission she felt anxious with ongoing nausea and numbness all over the body. She was a mother 2-year-old with no significant past medical history. Her medication on admission were; folic ...

ea0032p1048 | Thyroid (non-cancer) | ECE2013

The usefulness of thyroid function test in patients presenting with symptomatic bradycardia/complete heart block

Mlawa Gideon , Silveira Maria

Background: The causes of symptomatic bradycardia/complete are multifactorial. Bradycardia/complete heart block may be drug induced, electrolyte imbalance, ischaemic heart disease, or thyroid dysfunction. Hypothyroidism and electrolyte disturbances are reversible.Objectives/aims: To dentify/find out whether thyroid function test where performed in patients presenting with bradycardia/CHB in keeping with good practice before insertion of permanent pace ma...

ea0065p246 | Metabolism and Obesity | SFEBES2019

Presentation, investigations and management of suspected Gitelman syndrome in pregnancy

Silveira Maria , Haynes Shelly , Bujanova Jana

G2, P1, IUGR in previous pregnancy. Presented in 34/40 of pregnancy with profound lethargy, muscle weakness and fatigue. Found to have normotensive hypokalaemia − 2.6 mmol/l and mild metabolic alkalosis. No preceding vomiting, diarrhoea or nutritional cause. Pre-natal blood results were not available but reported low K+ in 2009. Required intravenous potassium replacement and symptoms improved dramatically with restoring normokalaemia. Results at diagnosis: K+ ...

ea0048wc1 | Workshop C: Disorders of the thyroid gland | SFEEU2017

Thyroid resistence

Silveira Maria , Bhutt Nouman , Chong Jimmy

Abstract learning objective: Resistance to thyroid hormone is a rare condition caused by tissue refractiveness to the effects of circulating thyroid and may be misdiagnosed as hyperthyroidism. This syndrome is characterized by elevated circulating thyroid hormones, and unsuppressed TSH levels. Although most patients are euthyroid, rarely they may present with clinical hyperthyroidism, if the Pituitary gland is more insensitive than other tissues to thyroid hormones.<p clas...

ea0041ep187 | Calcium and Vitamin D metabolism | ECE2016

The role of cinacalcet in a patient with persistent hypercalcaemia despite parathyroidectomy

Mlawa Gideon , Affam Dora , Silveira Maria

Introduction: Parathyroid adenoma is the commonest cause of primary hyperparathyroidism, but 10% of these adenomas can be ectopic, leading to persistent and recurrent hypercalcaemia.Case: We present a case of 82 years old man was admitted in June 2011 with increasesd confusion, slurred speech, poor balance (ataxia). He had no features of sepsis and no other focal neurology. His past medical history included constipation, dry eyes. He was on Aspirin, hypr...