hrp0095p1-455 | Diabetes and Insulin | ESPE2022

An Adolescent with HNF1B Deletion. A Case Report

Vourdoumpa Aikaterini , Koutaki Diamanto , Vasilakis Ioannis-Anargyros , Bacopoulou Ioanna , Sertedaki Amalia , Charmandari Evangelia , Paltoglou George

Introduction: Mutations in hepatocyte nuclear factor 1Β (HNF1B) gene (chromosome 17q12), lead to monogenic diabetes (HNF1B-MODY or MODY5, OMIM 137920) accompanied by multisystem disorders. HNF1B gene encodes HNF1B protein, a member of the homeodomain-containing superfamily of transcription factors, expressed early in embryogenesis, contributing significantly to organogenesis and the function of many systems (kidneys, liver, panc...

hrp0089p2-p028 | Adrenals and HPA Axis P2 | ESPE2018

A Rare Case of ACTH-Independent Cushing’s Syndrome due to Bilateral Micronodular Adrenal Hyperplasia and Myoclonic Dystonia

Vasilakis Ioannis-Anargyros , Kazakou Paraskevi , Kogia Christina , Karaflou Maria , Chrousos George , Charmandari Evangelia

Background: ACTH-independent adrenal Cushing’s syndrome accounts for less than 15% of endogenous Cushing’s syndrome in children. We present a rare case of ACTH-independent adrenal Cushing’s syndrome, which was associated with myoclonic dystonia.Case presentation: A 12-year old girl was referred on account of rapid weight gain, fatigue, growth deceleration and facial hypertrichosis. She had a history of gait instability and ataxia till the ...

hrp0084p2-446 | Growth | ESPE2015

BMI Negatively Correlates with GH Response to GH Provocation Testing

Vasilakis Ioannis-Anargyros , Gausche Ruth , Beger Christoph , Kratzsch Juergen , Kiess Wieland , Koerner Antje , Pfaeffle Roland

Background: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

hrp0094p2-161 | Diabetes and insulin | ESPE2021

Not every obese child has type 2 Diabetes Mellitus

Koutaki Diamanto , Vourdoumpa Aikaterini , Vasilakis Ioannis-Anargyros , Sertedaki Amalia , Charmandari Evangelia , Paltoglou George ,

Background: Maturity onset Diabetes of the young (MODY) is a rare form of diabetes with specific features that distinguish it from diabetes mellitus type 1 (DM1) or type 2 (Dm2). Research studies suggest that 5% of subjects diagnosed with diabetes before the age of 45 years have MODY, with 80% of them having been incorrectly diagnosed as having DM1 or Dm2. Genetic testing my enable correct diagnosis and treatment, optimize glycemic contro...

hrp0092p1-118 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Whole Exome Sequencing (WES) Reveals Oligogenic Gene Mutations in a Case of Combined Pituitary Hormone Deficiency (CPHD)

Sertedaki Amalia , Tatsi Elizabeth-Barbara , Nikaina Eirini , Vasilakis Ioannis Anargyros , Fylaktou Irene , Iacovidou Nicoletta , Siahanidou Soultana , Kanaka-Gantenbein Christina

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

hrp0086p2-p270 | Diabetes P2 | ESPE2016

Seasonality of Type 1 Diabetes in Children and Adolescents According to Date of Diagnosis and Date of Birth in a Large Diabetes Centre

Vasilakis Ioannis Anargyros , Kosteria Ioanna , Tzifi Flora , Christopoulos-Timogiannakis Evangelos , Kotrogianni Paraskevi , Chrousos George , Kanaka-Gantenbein Christina

Background: There are studies supporting the seasonality of diabetes according to date of diagnosis and date of birth, with most T1D children being diagnosed in fall and winter and most of them been born in the same period. That is in concordance with previously published data from 1978 to 2008 in our country.Objective and hypotheses: To assess whether there is a seasonal variation of diabetes onset according to date of diagnosis and date of birth of inc...

hrp0086p2-p293 | Diabetes P2 | ESPE2016

Impact of Demographic Factors on Diabetic Ketoacidosis Occurrence at Type 1 Diabetes Onset in Childhood

Tzifi Flora , Kosteria Ioanna , Vasilakis Ioannis Anargyros , Christopoulos-Timogiannakis Evangelos , Koutaki Diamanto , Chrousos George , Kanaka-Gantenbein Christina

Background: Diabetic Ketoacidosis (DKA) in newly diagnosed children with Type 1 Diabetes (T1D) has been associated in previous studies with several factors, such as age or season of diagnosis.Objective and hypotheses: The aim of the present study was to assess the impact of age, gender, birth order and seasonality in DKA occurrence in newly diagnosed T1D pediatric patients.Method: Data of children aged 0–14 years newly diagnos...

hrp0097p2-139 | Adrenals and HPA Axis | ESPE2023

A 6-year-old boy with Duchenne Muscular Dystrophy and acute adrenal insufficiency: a case report

Magoula Marousa , Ioannidou Gerina , Sotiriou Spyridoula , Vasilakis Ioannis-Anargyros , Mpali Maria , Kalamata Panagiota , Athanasopoulou Evianna , Papafotiou Chrysanthe

Background: Adrenal crisis is a life-threatening condition caused by either primary adrenal insufficiencyor hypothalamic-pituitary-adrenal (HPA) axis dysfunction, commonly due to chronic use of high-dose glucocorticoids. Clinical presentation, often with gastrointestinal symptoms (weakness, nausea, vomiting, epigastric pain) poses clinical challenges, sometimes leading to an incorrect diagnosis of gastroenteritis.Material:</stron...

hrp0095p1-259 | Diabetes and Insulin | ESPE2022

Tear Proteomics in Children and Adolescents with Type 1 Diabetes Mellitus and Correlation with Cognitive Function Levels

Nicolaides Nicolas , Makridakis Manousos , Kitani Rosa-Anna , Letsou Konstantina , Kressou Evangelia , Angelopoulou Eleni , Vasilakis Ioannis-Anargyros , Kosteria Ioanna , Mantzou Aimilia , Papassotiriou Ioannis , Varvogli Liza , Zoidakis Jerome , Kanaka-Gantenbein Christina

Background: Several studies have shown that type 1 diabetes mellitus (T1DM) may contribute to the early onset or acceleration of cognitive impairment (intelligence, psychomotor efficiency, information management speed, visual attention, visual perception and cognitive flexibility). Tear proteomics seems to provide useful information for understanding the molecular mechanisms of various ocular and systemic diseases.Objective and H...