hrp0094p2-147 | Diabetes and insulin | ESPE2021

Thrombocytopaenia induced by diazoxide treatment in a toddler with Hyperinsulinism-Hyperammonemia syndrome: a rare side-effect

Bisbinas Vasiliki , Giannopoulos Andreas , Karabouta Zacharoula ,

Introduction: Diazoxide is the first-line drug for Hyperinsulinemia-Hyperammonemia (HI/HA) syndrome, a disease due to a mutation in the glutamate dehydrogenase-1 (GLUD1) gene.Diazoxide, an opener of the pancreatic β-cells KATP-channels reducing insulin release, is uncommonly associated with thrombocytopaenia.Aim: We describe a toddler with HI/HA syndrome who developed thrombocytopaenia on diazoxide treatment.<p ...

hrp0092p3-53 | Diabetes and Insulin | ESPE2019

A Case of Congenital Hyperinsulinism due to ABCC8 Mutation: A Challenge to Diagnosis, Management, and Treatment

Karabouta Zacharoula , Rouga Elena , Nakouti Eleni , Bisbinas Vasiliki , Giannopoulos Andreas

Introduction: Congenital hyperinsulinism(CHI) is a rare complex disorder of hypoglycaemia attributable to inappropriate and dysregulated insulin secretion from the pancreas with an incidence of 1:50 000(1:2500 in consanguineous populations). Genetics involves defects mainly in the KATP channel genes ABCC8 and KCNJ11.Aim: We describe a male infant, presented with refractory hypoglycaemia the first week of life.<p clas...

hrp0092p3-184 | Multisystem Endocrine Disorders | ESPE2019

Eosinophilic Ascites: A Rare Complication of Autoimmune Polyendocrinopathy

Moudiou Tatiani , Tsikopoulos Georgios , Bisbinas Vasiliki , Giannopoulos Andreas , Karabouta Zacharoula

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

hrp0094p2-158 | Diabetes and insulin | ESPE2021

A novel variant HNF1A gene (HNF1A-MODY) in a patient presenting with hyperglycaemia and glycosuria

Bisbinas Vasiliki , Sertedaki Amalia , Giannopoulos Andreas , Karabouta Zacharoula ,

Introduction: HNF1A-MODY (MODY3) is a common subtype of the Maturity Onset Diabetes of the Young (MODY), a monogenic autosomal dominant disease presenting as a nonketotic diabetes with onset usually during adolescence, or early adulthood. HNF1A-MODY is less common among children as the hyperglycaemia usually manifests after 10th year of life.Aim: We describe a young girl presented with hyperglycaemia and glysosuria.<...

hrp0089p2-p109 | Diabetes &amp; Insulin P2 | ESPE2018

A Case of Neonatal Diabetes Due to Pancreatic Hypoplasia

Karabouta Zacharoula , Katsafiloudi Maria , Bisbinas Vasiliki , Karametou Margarita , Karali Chrisa , Giannopoulos Andreas

Introduction: Neonatal diabetes mellitus (NDM) is a rare form of insulin-dependent monogenic diabetes mellitus (1/400,000 live births) diagnosed in the first six months of life. It can be either transient or permanent, with abnormalities in the parental chromosome 6q24 and with mutations in genes related to the ATP-sensitive potassium pump in the β-cell membrane respectively.Aim: We describe a male infant, 2.5 months old, diagnosed with NDM and panc...