hrp0094p2-465 | Thyroid | ESPE2021

Allan-Herndon-Dudley syndrome: case report of a rare disorder

Navasardyan Lusine , Muradyan Irina

Introduction: Allan-Herndon-Dudley syndrome (AHDS) is an X linked disorder – mutation of monocarboxylate transporter 8 (MCT8) gene. It leads to a severe psychomotor retardation, significant hypotonia of the skeletal muscles, spastic or dystonic quadriplegia. MCT-8 is responsible for the uptake of T3 by neurons of CNS. AHDS is characterized by increased T3 concentration, increased T3 / T4 ratio, TSH not depressed, even slightly elevated levels. Because of impossibility f...

hrp0094p2-86 | Bone, growth plate and mineral metabolism | ESPE2021

Spontaneous Reshaping of Vertebral Fractures in an Adolescent with Osteogenesis Imperfecta

Montero-Lopez Rodrigo , Tischlinger Katharina , Laurer Elisabeth , Hortenhuber Thomas , Hogler Wolfgang ,

Introduction: Vertebral fractures (VFs) are a common and severe finding in secondary and primary osteoporosis. VFs in patients with osteogenesis imperfecta (OI) are an important factor of morbidity and mortality and their presence serves as supportive evidence to initiate bisphosphonate (BP) therapy. In children, VFs have the potential to reshape and regain their original configuration. Vertebral reshaping is regarded a desired effect of BP therapy in children...

hrp0098p1-55 | GH and IGFs 1 | ESPE2024

The Relation Between Serum Glucose and Growth Hormone Concentrations During Standard Glucagon Test for GH Release in Short Stature Children

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Ahmed Shayma , Zirak Hendeh , Elsiddig Sohair , Qusad Mohamed

Introduction: Glucagon serves as a growth hormone (GH) secretagogue. Serial measurements of GH concentration following glucagon administration are one of the growth hormone stimulation tests (GHSTs) for assessing GH sufficiency in children with suspected growth hormone deficiency (GHD). Although intramuscular glucagon is utilized to evaluate GH secretion, the relationship between changes in blood glucose (BG) and GH during this test has not been thoroughly stu...

hrp0098p2-93 | Fat, Metabolism and Obesity | ESPE2024

Prevalence of metabolic syndrome components and atherogenic index in obese nondiabeticchildren: anthropometric comparison with parents

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , Ahmed Shayma , Alaaraj Nada , Shaat Mona , Bedair Abdelrahman

Background: The global prevalence of childhood and adolescent obesity has surged since 1980, reaching 107.7 million cases in 2015. Notably, 23% of children in developed countries are overweight or obese. The Atherogenic Index of Plasma (AIP) emerges as a novel, robust biomarker, closely linked to obesity, and serves as a reliable indicator of dyslipidemia and associated conditions, including cardiovascular diseases.Aim: ...

hrp0098p2-401 | Late Breaking | ESPE2024

Euthyroid graves’ ophtalmopathy in an adolescent sero-negative for TSH receptor autoantibody: a case report

Sifour Latifa , Kherra Sakina , Bellouti Sihem , Sahli Hassiba , Zeroual Zoulikha

Introduction: Thyroid ophthalmopathy, also known as Graves ophthalmopathy, is an autoimmune condition that can affect the orbital and periorbital tissue. Antibodies stimulating the TSH receptor (TRAb) are thought to be involved in the pathogenesis of this disease. Our report describes a case of Graves’ ophthalmopathy presented solely with symptoms of the eyes with normal thyroid function tests and negative immunoreactive TSH receptor autoantibody.<p ...

hrp0098p3-6 | Adrenals and HPA Axis | ESPE2024

Induced Adrenal Insufficiency: Case series

Djermane Adel , Ouarezki Yasmina , Attal Asma , Maouche Hachemi

Background: Adrenal insufficiency (AI) is mainly due to congenital disorders in children. Acquired causes can be autoimmune, inflammatory, infectious but mainly drug induced especially due to prolonged exposure to excess glucocorticoids. Daily dose, duration, timing, as well as the route of administration can all play a role in. We present two patients with different clinical presentations.Case 1: A 8 year- old-girl refe...

hrp0095p1-48 | Diabetes and Insulin | ESPE2022

Maternal Hepatic HKDC1 Expression Impacts Offspring Glucose Metabolism

Jo Inha , Khan Md. , Layden Brian

Gestational Diabetes (GDM) increases risk of developing type 2 diabetes in the mother and child later in life however, despite the increasing prevalence of GDM, its molecular mechanism remains unknown. A recent Genome-Wide Association Study (GWAS) identified a unique genetic association of the novel 5th hexokinase, hexokinase domain component-1 (HKDC1) to gestational glucose tolerance at 28 weeks of gestation linking it to GDM. We have previously shown that liver-specific over...

hrp0092p1-187 | Diabetes and Insulin (1) | ESPE2019

Course of Puberty and Growth Spurt in Boys with Type 1 Diabetes

Shpitzer Hana , Lazar Liora , Shalitin Shlomit , Phillip Moshe , de Vries Liat

Background: Data on the course of puberty and pubertal growth in boys with Type 1 diabetes (T1D) are sparse.Objectives: To study the course of puberty, pubertal growth and final height in boys with T1D as well as possible factors affecting these.Methods: In this retrospective longitudinal study, 68 boys diagnosed with T1D between 1996-2009 who were pre-pubertal at diagnosis and had...

hrp0092p3-281 | Late Breaking Abstracts | ESPE2019

New Autosomal Dominant Mutation in Glucokinase Gene Causing Congenital Hyperinsulinism Diagnosed in Adulthood

Zalmon-Koren Ilana , Peleg Amir , Sagi-Dain Lena , Harari-Shaham Amalia , Larom Gal , Pouker Iulia , Glaser Ben

Introduction: Autosomal dominant congenital hyperinsulinism (CH) is characterized by congenital hypoglycemia due to mutations in any of several genes including the glucokinase (GCK) gene. It is a rare disease with variable clinical symptoms mostly treated medically but in some cases requiring surgical intervention.Aim: We describe herein the clinical presentation and the genetic diagnosis of CH in two generations of an I...

hrp0089p3-p148 | Fat, Metabolism and Obesity P3 | ESPE2018

Investigation of Pubertal Effect on Thyroid Volume and IGF-1 Changes in Morbid Obese Children

Karaoglan Murat , Balci Onur , Keskin Mehmet

Context: Thyroid growth and insulin like growth factor-1 (IGF-1) change depending on pubertal status and body mass index (BMI). The previous studies have reported some inconsistent results on association between thyroid volume (TV) and IGF-1 in terms of puberty and obesity.Objective: The aim of present study is to investigate pubertal effect of on TV and IGF-1 in morbid obese children.Design: The study population consisted of 250 c...