hrp0095p1-189 | Thyroid | ESPE2022

Resistance to Thyroid Hormone β in an infant with a novel de novo mutation of the THRB gene

Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Sultana , Kanaka-Gantenbein Christina

Introduction: Resistance to Thyroid Hormone (RTH) is a clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter and no clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ.<p class="abstext"...

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 ...

hrp0089fc1.4 | Adrenals &amp; HPA Axis | ESPE2018

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance Identifies a Novel TRIM28 Gene Mutation (p.R230X)

Sertedaki Amalia , Marinakis Nikos , Nicolaides Nicolas C. , Crousos George , Charmandari Evangelia

Introduction: Primary Generalized Glucocorticoid Resistance or Chrousos syndrome (CS) is a rare sporadic or familial disorder characterized by generalized, partial tissue insensitivity to glucocorticoids. Mutations of the NR3C1 gene, which encodes the human glucocorticoid receptor, have been identified in many but not all patients with CS.Objective: To identify novel genes related to CS in patients without NR3C1 gene mutations.<p cl...

hrp0089p1-p022 | Adrenals and HPA Axis P1 | ESPE2018

A Large Consanguineous Family with a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism type 1 (PHA1) Caused by a Novel Mutation in the SCNN1A Gene: Functional Studies

Efthymiadou Alexandra , Gautschi I , vanBemmelen MX , Sertedaki Amalia , Chrousos George , Schild Laurent , Chrysis Dionisios

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

hrp0089p2-p104 | Diabetes &amp; Insulin P2 | ESPE2018

Age and Exocrine Pancreatic Enzyme Requirements are Major Determinants for Carbohydrate Metabolism Impairment in Children Affected with Cystic Fibrosis

Escudero Janire , Uribe Amalia , Ramon Villa Jose , Argente Jesus , Martos-Moreno Gabriel A.

Introduction: Cystic fibrosis related diabetes (CFRD) is associated with a poorer nutritional status, respiratory function and an increase in mortality rate. Screening is recommended from age 10; however, prediabetic conditions are diagnosed earlier.Objectives: 1) To characterize the degree of carbohydrate metabolism impairment (CMI) in 50 CF patients. 2) To explore the association with clinical parameters as eventual predictors of these conditions.<...

hrp0086p2-p182 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Primary Hyperparathyroidism- A Cause of Metabolic Syndrome in Children?

Ioana Arhire Amalia , Pavel Madalina , Florea Suzana , Miron Adrian , Gabriela Barbu Carmen

Introduction: We report a case of a 15 year old male with metabolic syndrome due to primary hyperparathyroidism.Case report: A 15 year old male was admitted in our department for the evaluation and management of obesity. His medical history revealed a progressive weight gain in the last 3 years in an emotional familial context. Clinical features: Obesity: Z-score of +2.32 DS, a height of 1.80 m and a weight of 108 kg, with a BMI of 33.3...

hrp0082p1-d2-2 | Adrenals &amp; HP Axis | ESPE2014

Functional Characterization of a Novel Heterozygous Point Mutation in the Human Glucocorticoid Receptor Gene Causing Primary Generalized Glucocorticoid Resistance

Nicolaides Nicolas C , Vlachakis Dimitris , Sertedaki Amalia , Kossida Sophia , Chrousos George P , Charmandari Evangelia

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

hrp0094p2-32 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene.

Fylaktou Eirini , Christoforidis Athanasios , Moutsanas Vissarios , Sertedaki Amalia , Kanaka-Gantenbein Christina ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by impairment of one of the enzymes involved in the steroidogenesis pathway. 3βhydroxysteroid dehydrogenase type 2 deficiency (3βHSD2 deficiency) is a rare form of CAH (<0.5%) due to pathogenic variants in the HSD3B2gene encoding for the enzyme Type 2 3β-hydroxysteroid dehydrogenase Δ4–Δ5isomerase (3&#946...

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...

hrp0097p1-48 | Diabetes and Insulin | ESPE2023

Changing Diabetes in Children Indonesia: Public-private partnership to improve healthcare access for children and adolescents with type 1 diabetes mellitus

B. Pulungan Aman , Amalia Gassani , Septira Salsabila , Vathania Nabila , Faizi Muhammad , Fadiana Ghaisani

Background: In 2022, 1.52 million children and adolescents worldwide were diagnosed with type 1 diabetes mellitus (T1DM). During COVID-19, diabetic ketoacidosis (DKA) episodes in newly-onset and established cases increased in 44.2% and 30.1% of paediatric diabetes centres, respectively. In 2017-2019, 1,249 children were diagnosed with T1DM in Indonesia, and 70% were diagnosed with DKA at diagnosis in 2017. Changing Diabetes in Children (CDiC) is a public-priva...