Endocrine Abstracts

The diagnosis of Pheochromocytomas often poses a great challenge. We report a case of pseudo-pheochromocytoma causing challenges in the clinical diagnosis. A 35-year old gentleman with high BMI, was admitted with worsening headache, visual field defects and accelerated hypertension. MRI pituitary and biochemical profiling revealed a non-functioning pituitary macroadenoma with optic chiasm compression, warranting urgent surgical intervention, vindicating an endocrinology referr...

Non-diabetic euglycaemic ketoacidosis (NDEK) is a rare condition defined as euglycaemia, metabolic acidosis and elevated serum ketones occurring in patients without diabetes mellitus. It is less well known compared to diabetic ketoacidosis (DKA) and euglycaemic diabetic ketoacidosis (EDKA), both happening in patients with diabetes. Here we describe a case of a 35-year old woman, previously fit and well, who presented with unidentified cause of pancreatitis leading to severe me...

Hyponatraemia in pregnancy can be precipitated by various factors, including drugs, fluid excess and oxytocin infusion. It is a common complication of pre-eclampsia toxaemia (PET), although concomitant syndrome of inappropriate ADH secretion (SIADH) in this context is rare. We present a case of SIADH leading to hyponatraemia in a PET patient. A 30 year-old primigravid woman with bipolar disorder and hypertension was admitted with pre-eclampsia at gestational week 28. Her medic...

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...

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...

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;<...

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...