Searchable abstracts of presentations at key conferences in endocrinology

ea0086p297 | Thyroid | SFEBES2022

A rare case of agranulocytosis secondary to carbimazole medication complicated by a prolonged COVID-19 infection

Bottoms Nicole , Ward Lisa , Banerjee Ritwik , Thong Lim Chung

A 55 year-old Nepalese lady, previously fit and well, presented to her GP 2 months ago with palpitations and weight loss. She was diagnosed with Graves thyrotoxicosis based on her clinical history and biochemistry, and was started on carbimazole 40 mg daily. She suffered from COVID19 infection a month later and started self-isolating. She continued to feel unwell for three weeks but did not seek urgent medical attention due to the perceived general recommended isolation guidel...

ea0059p127 | Neuroendocrinology and pituitary | SFEBES2018

Identifying disease causing variants in aryl hydrocarbon receptor-interacting protein (AIP) variants and their significance on the clinical phenotypes

Yang Zhou Jordi , Lillina Vignola M , Collier David , Thong Lim Chung , Iacovazzo Donato , Awad Sherine , Korbonits Marta

Introduction: Mutations in the aryl hydrocarbon receptor-interaction protein (AIP) gene predisposes to growth hormone or prolactin secretin adenomas, usually, manifesting before the age of 30 years old. There are 834 variants of the AIP reported in the GnomAD database and over 100 variants have been described in patients with pituitary adenomas. While the pathogenic role of variants resulting in truncated protein is beyond doubt, determination of the clinical...

ea0077oc1.3 | Reproductive and Neuroendocrinology | SFEBES2021

Acromegalic cardiomyopathy in pituitary-specific aryl hydrocarbon receptor interacting protein (Aip) gene knockout animals

Mistry Anisha , Funge Gregory , Sebastian Sonia , Aziz Qadeer , Solomou Antonia , Vignola Maria Lillina , Thong Lim Chung , Herincs Maria , Caimari Francisca , Gaston-Massuet Carles , Tinker Andrew , Korbonits Marta

Introduction: Patients with a germline loss-of-function mutation in AIP are predisposed to young-onset GH excess resulting in gigantism or acromegaly. Acromegaly leads to disease-specific cardiomyopathy with biventricular hypertrophy and diastolic dysfunction progressing to fulminant cardiac failure if left untreated, therefore it is vital to have a tractable animal model to investigate the diseaseFindings: Our AipFlox/Flox;<...

ea0070aep281 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators

Iacovazzo Donato , Thong Lim Chung , Quezado Rosana , Drummond Juliana , Antonio de Sousa Barros Fernando , Cuenco Joyceline , Brändle Michael , Walker Emily , Guo Min , Collier David , Khan Faraz , Wang Jun , Tan Tricia , Ellard Sian , Stein Roland , Korbonits Marta

The islet-enriched transcription factor MAFA regulates the expression of genes critical to beta cell function and insulin secretion. We previously described anovel MAFA mutation (c.191C > T, p.S64F) causing familial insulinomatosis and diabetes mellitus, with male carriers more often developing diabetes and females more prone to insulinomatosis. The exact molecular mechanisms underlying these phenotypes are unclear. In this study, we assessed glucose metabolism an...