hrp0094p2-171 | Fat, metabolism and obesity | ESPE2021

Association of calprotectin with obesity in prepubertal children

Yoon Jong Seo , Young Kim Eun , Hee Yi Kyung , Suk Shim Young , Hwang IL Tae ,

Background: Perturbation of inflammation is critically linked to nutrient metabolic pathways and obesity-associated complications, such as insulin resistance and type 2 diabetes (T2DM). The S100 family of proteins, including S100A8/A9 (calprotectin), have been implicated in disease pathogenesis and investigated as potential markers of inflammation. In adults, increased circulating levels of calprotectin have been reported in obesity-related chronic low-grade i...

hrp0098p3-147 | Growth and Syndromes | ESPE2024

Accuracy of the Algerian Growth Chart in diagnosing growth hormone deficiency

Djermane Adel , Ouarezki Yamina , Ladjouze Asmahane , Kherra Sakina , Mohammedi Kahina , Bensalah Meriam , Maouche Hachemi

Introduction: Short stature is the one of the most common referral to paediatric endocrine clinic. Analysis of growth charts is a non-invasive tool and should allow differentiation between normal and abnormal growth. The aimof thid study is to compare the accuracy of Algerian growth charts (DZ-charts) with WHO growth charts in identifying short stature.Method: Measurement of children and adolescents aged from 6 to 14 yea...

hrp0084p3-770 | Diabetes | ESPE2015

Particularités de la prise en charge du diabète Type 1 chez des enfants dont la révélation est survenue avant l’âge de five ans

Wafaa Mazari , Khadidja Bouriche , Djawida Senouci , Yasmine Zerga , Snaa Chiali , Salih Bendeddouche

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

hrp0089rfc3.2 | Diabetes and Insulin 1 | ESPE2018

Personalized and Predictive Medicine for Pediatric Diabetes Through a Genetic Test Using Next Generation Sequencing

Schwitzgebel Valerie , Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

hrp0084p3-923 | GH & IGF | ESPE2015

IGFI and Relation to Growth in Infancy and Early Childhood in Very-Low-Birth-Weight Infants and Term Appropriate for Gestational Age Infants

Jong Miranda de , Cranendonk Anneke , van Weissenbruch Mirjam M.

Background: IGFI regulates early postnatal growth of preterm infants and also plays an important role in growth in childhood. Very-low-birth-weight (VLBW) infants are at risk for reduced growth in early childhood.Objective and hypotheses: To compare IGFI and the correlation to growth parameters in infancy and early childhood in VLBW and term appropriate for gestational age (AGA) infants.Method: We included 41 VLBW children and 64 t...

hrp0086fc7.6 | Gonads & DSD | ESPE2016

Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure

Franca Monica , Funari Mariana , Nishi Mirian , Domenice Sorahia , Latronico Ana Claudia , Jorge Alexander , Lerario Antonio , Mendonca Berenice

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using Next-Generation Sequencing (NGS).<p class="abstex...

hrp0086rfc6.2 | Syndromes: Mechanisms and Management | ESPE2016

RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders

Homma Thais , Funari Mariana , Lerario Antonio , Freire Bruna , Nishi Mirian , Yamamoto Guilherme , Naslavsky Michel , Zatz Mayana , Arnhold Ivo , Jorge Alexander

Background: The majority of children with short stature are classified as idiopathic short stature. Whole exome sequencing can help identify genetic causes of short stature.Methods: We recruited 10 children with short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that might cause the short stature. All rare allelic var...

hrp0086p1-p369 | Gonads &amp; DSD P1 | ESPE2016

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Accordingly Gender Assignment

Gomes Nathalia , Costa Elaine , Zamboni Aline , Nishi Mirian , Batista Rafael , Cunha Flavia , Inacio Marlene , Domenice Sorahia , Mendonca Berenice

Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.Method: Retrospective longitudinal study conducted at Hosp...

hrp0086p1-p821 | Syndromes: Mechanisms and Management P1 | ESPE2016

Case Report of 48,xxyy Syndrome Associated to Father’s Radioactive Contamination During the Cesium Accident in Goiânia – Goiás, Brazil

Pinto Renata Machado , Cunha Damiana Mirian , Ribeiroi Cristiano Luiz , da Silva Claudio Carlos , da Cruz Aparecido Divino

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...