hrp0089p1-p173 | Growth & Syndromes P1 | ESPE2018

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Gkourogianni Alexandra , Segerlund Emma , Hallgrimsdottir Sigrun , Nilsson Ola , Stattin Eva-Lena

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...

hrp0086rfc13.2 | Management of Obesity | ESPE2016

The Use of Proteomics in the Assessment of Health Status of Offspring Born after Intracytoplasmic Sperm Injection (ICSI)

Kosteria Ioanna , Gkourogianni Alexandra , Papadopoulou Aggeliki , Anagnostopoulos Athanasios , Chrousos George , Tsagaris George , Kanaka-Gantenbein Christina

Background: Several studies have correlated Assisted Reproduction Technologies (ART) including classic IVF and Intacytoplasmic Sperm Injection (ICSI) with epigenetic alterations in the offspring that could have long lasting unfavorable metabolic effects. Proteomics, a state-of-the-art technology used for the identification of early biomarkers of disease, has already been implemented in the search of success in ART but not yet for such markers evaluation in offspring of ART.</p...

hrp0084p3-1254 | Programming &amp; Misc. | ESPE2015

Untargeted Plasma Metabolomics in Prepubertal ICSI and Naturally Conceived Children Unravels Gender: Dimorphic Metabolic Trajectories After ICSI

Gkourogianni Alexandra , Telonis Aristeidis G , Kosteria Ioanna , Margeli Alexandra , Mantzou Emilia , Konsta Maria , Loutradis Dimitrios , Mastorakos George , Papassotiriou Ioannis , Kanaka-Gantenbein Christina , Klapa MariaI , Chrousos George P

Background: ICSI is an assisted reproduction technique (ART) mainly used to overcome male infertility. Nowadays, ICSI is employed frequently due to its high success rate, despite it being highly invasive (i.e. epigenetic risk). Recent studies in ART offspring show a higher incidence of cardio-metabolic risk than in naturally-conceived (NC) controls. Thus, in our prior untargeted metabolomic study between ICSI and NC prepubertal girls, we demonstrated insulin resistance in the ...

hrp0089rfc6.5 | Fat, Metabolism and Obesity | ESPE2018

High-Throughput Untargeted Plasma Metabolomics Unravels Gender Dimorphic Metabolic Trajectories in Naturally Conceived and ICSI Prepubertal Children

Telonis Aristeidis G , Gkourogianni Alexandra , Papassotiriou Ioannis , Konsta Maria , Papastamataki Maria , Margeli Alexandra , Bartzeliotou Anastasia , Mantzou Emilia , Kosteria Ioanna , Mastorakos George , Loutradis Dimitrios , Chrousos George P , Klapa Maria I , Kanaka-Gantenbein Christina

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...

hrp0089p1-p127 | Fat, Metabolism and Obesity P1 | ESPE2018

PCSK9 and Lp(a) Levels of Children Born after Assisted Reproduction Technologies

Kosteria Ioanna , Terentes-Printzios Dimitrios , Koutagiar Iosif , Vlachopoulos Charalambos , Gkourogianni Alexandra , Sakka Sophia , Skoumas Ioannis , Miliou Antigoni , Papassotiriou Ioannis , Loutradis Dimitrios , Chrousos George P , Tousoulis Dimitrios , Kanaka-Gantenbein Christina

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

hrp0086fc14.1 | Growth : Mechanisms | ESPE2016

Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum

Gkourogianni Alexandra , Andrew Melissa , Crocker Melissa , Dunbar Nancy , Jorge Alexander , Lafranchi Stephen , Lalani Seema , Lebl Jan , Lin Lynda , Los Evan , Newbern Dorothee , Nowak Catherine , Olson Micah , Popovic Jadranka , Pruhova Stepanka , Quintos Jose Bernardo , Sentchordi Lucia , Baron Jeffrey , Nilsson Ola , Dauber Andrew

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

hrp0089p3-p230 | Growth &amp; Syndromes P3 | ESPE2018

Endocrinological Evaluation of Girls with Turner Syndrome Attending Alexandria University Children’s Hospital

Khater Doaa , Eldesoky Shadia

Introduction: Turner Syndrome (TS) is the consequence of complete or partial absence of one X chromosome in a phenotypic female. The genes involved in Turner phenotype are X-linked genes that escape inactivation. A major locus involved in the control of linear growth has been mapped within the Pseudo-Autosomal Region (PAR1) of the X chromosome.Aim: To study some endocrine hormones with considerable effect on the presentation and prognosis of TS and their...

hrp0089p3-p087 | Diabetes &amp; Insulin P3 | ESPE2018

Prevalance of Fatty Liver in Patients with Type 1 Diabetes Mellitus Attending Diabetes Clinic at Alexandria University Children’s Hospital

Fawzy Dina , Elsayed Shaymaa , Adel Abdel-Moneim Mahmoud

Background: Type 1 diabetes mellitus (T1DM) - related hepatopathy is not uncommon and tends to be more prevalent among children with poor glycemic control. Recent studies suggest that fatty liver disease may be more common in T1DM than previously thought.Aim: The aim of this work was to determine the frequency of hepatopathy in patients with type 1 diabetes mellitus attended diabetes clinic at Alexandria university childrenÂ’s hospital (AUCH) and it&...

hrp0089p2-p410 | Thyroid P2 | ESPE2018

Study of Hearing Function in Children with Congenital Hypothyroidism Attending Alexandria University Children’s Hospital

Elsayed Shaymaa , Wafa Ehsan , Elmoazen Doaa , Elsayed Haidy

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most common preventable causes of mental retardation. Thyroid hormones (TH) are essential for normal development of auditory system. Deficiency of TH during fetal and early postnatal sensitive periods of ear development, results in various degree of congenital hearing impairments or even in deafness if TH substitution is not instituted within a critical ...

hrp0092p3-78 | Diabetes and Insulin | ESPE2019

Prevalence of Fatty Liver in Children with Type 1 Diabetes Mellitus Attending Diabetes Clinic of Alexandria University Children's Hospital

Mowafy Ehsan , Mahfouz Amel , El Neily Dalia , Ramzy Heba

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...