Searchable abstracts of presentations at key conferences in endocrinology

ea0059ep8 | Adrenal and steroids | SFEBES2018

Metastatic adrenocortical carcinoma: A Case Report

Montebello Annalisa , Caruana Ruth , Vella Sandro

Background: Adrenocortical carcinomas (ACC) are rare malignant tumours with an incidence of 1 to 2 per million per year.Case Report: A 70 year old lady was admitted with a one month history of new onset hypertension, hypergylcaemia, hirsutism and generalised weakness. On examination she was cushingoid with facial plethora, severe hirsutism, central obesity and severe proximal myopathy. A CT trunk showed a large, lobulated, inhomogeneous, solid left adren...

ea0059ep39 | Clinical biochemistry | SFEBES2018

A case of the syndrome of inappropriate ADH secretion in the setting of pre eclampsia

Montebello Annalisa , Caruana Ruth , Thake John , Vella Sandro , Vassallo Josanne

Background: Hyponatremia is a rare complication of pre eclampsia. We present a case of syndrome of inappropriate ADH secretion (SIADH) in the setting of pre eclampsia.Case Report: A 40 year old lady known to have type 1 diabetes on insulin pump therapy presented with hypertension at 33 weeks gestation. Treatment with labetalol 100 mg bd was initiated but she was admitted at 34 weeks due to lack of BP control. Sodium levels were 136 mmol/L (135–145 m...

ea0070aep246 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Insights from whole exome sequencing in a Maltese cohort with gestational diabetes

Paul Pace Nikolai , Vella Barbara , Craus Johann , Abou-Hussein Samir , Caruana Ruth , Felice Alex , Savona-Ventura Charles , Vassallo Josanne

Background: Gestational diabetes (GDM) can be driven by mutations or rare variants in various genes associated with monogenic or atypical forms of diabetes. The reported frequency of monogenic defects of beta cell function in GDM varies extensively, in part due to differences in ethnicity, patient ascertainment criteria and techniques used for genetic analysis. The objective was to evaluate the frequency and molecular spectrum of mutations in a curated list of genes associated...