Endocrine Abstracts

A 46-year-old lady was referred to endocrinology with thyrotoxicosis. She was diagnosed with Graves’ disease by her GP in October 2016 when presenting with classical symptoms and investigations [TSH<0.01 mIU/L (NR 0.3–4.2), fT4=34.3 pmol/L (NR 9–23), TSHrAb>30 u/mL (NR<0.4), and increased iodine uptake]. She was therefore started on carbimazole 15 mg/day. She returned to her GP in December 2016 reporting resolved symptoms, however, she ...

Introduction: Approximately 5-10% of PHPT cases are hereditary. One such hereditary cause of PHPT is Hyperparathyroidism-jaw Tumour Syndrome (HPT-JT) caused by an autosomal dominant mutation in cell division cycle 73 (CDC73) that impairs parafibromin, a protein with antiproliferative activity. HPT-JT is characterised by parathyroid tumours, ossifying jaw fibromas, renal tumours and uterine tumours. We report a familial case of HPT-JT caused by a novel CDC73 mutation.<...

Introduction: Ectopic Cushing’s syndrome constitutes the second most common paraneoplastic syndrome and has been seen in 1-5 % of small cell lung cancers. It has a poor prognosis and can present with life-threatening complications.Case: We present a 66-year-old lady who attended with peripheral oedema, bruising and visual blurring. Past medical history included bronchiectasis, oesophageal web, ischemic colitis, Ehlers Danlos syndrome, and hypoxic br...

Carbimazole is one of the most commonly prescribed endocrine medications. There are a wide range of side effects associated including bone marrow disorders, severe cutaneous reactions, agranulocytosis and vasculitis. There have been few reports of anti-thyroid associated arthritis, described as migratory arthritis with prompt resolution following medication discontinuation. Side effects reported in British national Formulary and Electronic Medicine Compendium include myopathy ...

Introduction/Background: Gender differences affect the treatment of several diseases in both male and female patients. However, the influence of gender on treatment decisions and outcome in neuroendocrine neoplasms (NENs) has scarcely been investigated. Aims: Comparison of tumor characteristics, treatment decisions and outcome of patients with NENs, stratified by genderMaterial and Methods: Retrospective analysis of the SwissNET co...

Fetal growth restriction (FGR) defines a fetus which does not achieve its intrauterine growth potential. FGR is linked to placental dysfunction and hypoxia and is associated with a high risk of stillbirth, neonatal death and long-term complications; there are no treatments. Estrogen related receptor γ (ERRγ) is a nuclear receptor that is regulated by hypoxia in other systems; it is expressed in the placenta, thus we propose that it may be an important regulator of hy...

Pheochromocytoma-Paraganglioma (PPGL) is a rare but important tumour with non-specific presentations that overlap with extremely common entities such as anxiety, hypertension, acute illness and episodic ‘spells.’ Assessment of urine normetanephrine or metanephrine(UNM-M) in real life practice, where PPGL is very rare and PPGL mimics are extremely common, may show overlap in results with loss of specificity depending on the reference range chosen. We performed a retro...

Introduction: Adrenal incidentalomas are increasingly found in patients imaged for investigation. A service evaluation was undertaken to standardise care for these patients in line with the European Society of Endocrinology Guidelines.Aim: Standardise the care for patients with adrenal adenomas at Royal Liverpool University Hospital.Method: Retrospective review of 70 patients with adrenal incidentalomas over 2 years (January 2016&#...

Introduction: Adrenal incidentalomas are common occurrence with up to 3–10% of the general population who have imaging. Up to 20% of them may have autonomous cortisol secretion (ACS), a term that refers to biochemical evidence of excess cortisol, but without the overt cushing’s syndrome.Aim: Prevalence of ACS in our cohort of patients with adrenal incidentalomas and review their care.Method: Retrospective review of 70 pat...

Introduction: An HbA1c target level of 48 mmol/mol or lower in children with type 1 diabetes is recommended by the National Institute for Health and Care Excellence. Only 7.1% (national average 7.2%) of children in our unit achieved this target. In response, during a multidisciplinary diabetes away day, we explored innovative approaches to timely and efficient identification and intervention in patients with high HbA1c levels. The National Paediatric Diabetes Audit web portal,...