Endocrine Abstracts

Background: Cranial diabetes insipidus (DI) is characterised by the inability to produce vasopressin leading to uncontrolled diuresis. Management includes administering synthetic vasopressin analogue desmopressin (DDAVP). Recently, there have been several national reports of DDAVP omission causing serious patient harm. This study aims to evaluate the feasibility of an automated alert system using Natural Language Processing (NLP) in electronic health records (EHR) to detect DI...

Background: Metyrapone is commonly used in medical management of Cushing’s syndrome. It inhibits 11-β hydroxylase, which catalyses the conversion of 11-deoxycortisol to cortisol. The adequacy of metyrapone blockade can be assessed either clinically or biochemically using a target mean serum cortisol 150–300 nmol/l. Cortisol is normally measured by immunoassay.Case report: A 21-year-old female presented with clinical and biochemical feature...

Background: Metyrapone inhibits 11-β hydroxylase and causes a subsequent rise in the cortisol precursor, 11-deoxycortisol. Cortisol measurements by immunoassays are susceptible to interference and reagent antibody cross-reactivity with cortisol precursors when used in patients receiving metyrapone treatment. Clinicians rely on clinical and biochemical features of cortisol excess for dose titration of this medical blockade. The extent of this interference remains unclear. ...

Phaeochromocytomas (PCC) and paraganglioma (PGL) are neural crest tumours arising from the chromaffin producing cells of the adrenal medulla or sympathetic/parasympathetic system respectively. Recently, in part due to advances in high throughput sequencing, our understanding of the genetic predisposition to these tumours has greatly increased. To date, 13 genes have been implicated in the pathogenesis of these conditions (ten available for testing at our centre). Recent studie...

Background: Adrenal venous sampling (AVS) is considered the gold standard for lateralisation of aldosterone production in patients with primary aldosteronism (PA). However, in some patients AVS is not technically successful and management may depend on radiological findings.Aim: To determine 1) the success rate of AVS and 2) the outcomes after surgery related to the lateralisation modality.Method: 156 patients were included who pre...

Introduction: The age of onset and severity of thyroid disease in MEN2 kindreds can be variable, resulting in wide intrafamilial heterogeneity, despite the same oncogenic driver RET pathogenic variant being present. Our study sought to investigate the RET kinomic landscape in MEN2 to discover new biomarkers and to provide further mechanistic insights into malignant disease progression, focussing on paediatric cases.Metho...

Introduction: Multi-modal therapy for adrenocortical carcinoma (ACC) includes surgery, therapy with the adrenolytic agent mitotane and systemic chemotherapy. Achievement of therapeutic mitotane concentrations (≥14 mg/l) has been related to improved outcomes.Aim: To evaluate the effectiveness of a defined* high dose protocol mitotane therapy in patients with advanced ACC (stages III and IV).Methods: Review of patients presenti...