hrp0092fc1.3 | Diabetes and Insulin Session 1 | ESPE2019

Next Generation Sequencing in Greek MODY Patients Increases Diagnostic Accuracy and Reveals a High Percentage of MODY12 Cases

Tatsi Elizabeth-Barbara , Sertedaki Amalia , Skorilas Andreas , Chrousos George , Kanaka-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD), characterized by early onset of hyperglycemia, autosomal dominant inheritance and defect in β-cell insulin secretion. To date, 14 different MODY subtypes have been reported, each one with a distinct genetic etiology.Materials and Methods: We designed a NGS TGP of seven ...

hrp0084p2-475 | Growth | ESPE2015

Growth Hormone Deficiency and Pituitary Dysgenesis in a Girl with Microdeletion 2q31.1

Hammer Elke , Busche Andreas , Gillessen-Kaesbach Gabriele

Background: Microdeletions of the chromosomal region 2q31.1 are rare. Growth retardation is reported in the majority of these patients, but information about growth hormone status is not given in the literature. Other typical features in 2q31.1 deletion syndrome are developmental delay, limb abnormalities, short palpebral fissures, heart defects, among others.Objective and hypotheses: A 12 year old girl presented at the age of 7 years with severe growth ...

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...

hrp0089p1-p164 | Growth &amp; Syndromes P1 | ESPE2018

Changing Patterns of Growth in Prader-Willi Syndrome

Irene Neophytou Georgia , Frixou Mikaela , Guftar Shaikh M. , Kyriakou Andreas

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

hrp0086p1-p22 | Adrenal P1 | ESPE2016

An Assessment of the Hypothalamic–Pituitary–Adrenal Axis in Children with Prader–Willi Syndrome

Kyriakou Andreas , Lewis Sarah , Coveney John , Roche Edna F.

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

hrp0082p1-d3-190 | Pituitary | ESPE2014

A Rare Cause of Diabetes Insipidus: Congenital Proprotein Convertase 1/3 Deficiency

Karaguzel Gulay , Cakir Murat , Akbulut Ulas , Janecke Andreas , Okten Aysenur

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...

hrp0084p1-129 | Thyroid | ESPE2015

Intelligence and Behaviour in Children and Adolescents with Hashimoto’s Thyroiditis

Boettcher Claudia , Brosig Burkhard , Windhaus Henriette , Wudy Stefan A , Hahn Andreas

Background: Hashimoto’s thyroiditis (HT) is an autoimmune-mediated disorder, and is the most common cause of thyroid disease and acquired hypothyroidism in children and adolescents. In adults with HT, concentration problems, memory disorders and an increased rate of depression have been reported.Objective and hypotheses: To investigate, whether children and adolescents with HT have more behaviour and emotional problems, and/or lower intelligence tha...

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.<...