hrp0092rfc4.3 | Fat Metabolism and Obesity Session | ESPE2019

Dysregulated Gene Expression Profile in Visceral Adipose Tissue of Juvenile Wistar Rats with Catch-Up Growth: Association with Fat Expansion and Metabolic Parameters

Lizárraga-Mollinedo Esther , Carreras-Badosa Gemma , Remesar Xavier , Xargay-Torrent Silvia , Mas-Parés Berta , Prats-Puig Anna , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background: Accelerated catch-up growth following intrauterine growth restriction increases the risk of developing visceral adiposity and metabolic syndrome. Animal models of growth restriction during gestation have been developed as a powerful tool to provide insight into the underlying molecular mechanisms thereof.Objective: To analyze the patterns of gene expression in the retroperitoneal adipose tissue of rats with i...

hrp0092p1-193 | Fat, Metabolism and Obesity (1) | ESPE2019

Circulating Insulin-Like Growth Factor-I Independently Predicts Blood Pressure in Apparently Healthy Children

Xargay-Torrent Sílvia , Dorado-Ceballos Estefanía , Benavides-Boixader Anna , Lizárraga-Mollinedo Esther , Mas-Parés Berta , Montesinos-Costa Mercè , Zegher Francis de , Ibáñez Lourdes , Bassols Judit , López-Bermejo Abel

Background and Objectives: In adults, discordant associations exist between insulin-like growth factor-I (IGF-I) and blood pressure with scarce reports in apparently healthy children. IGF-I levels increase during puberty in parallel to calcium and phosphorus levels. In this context, our aim is to study the association between IGF-I and blood pressure in apparently healthy children, together with the interaction of the serum calcium-phosphorus product (Ca*P...

hrp0097p2-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Precocious puberty: let's talk about the north of Algeria!!

Rouabah Nadira , Rouabah Hamza , Manaa Ardjouna , Bioud Belkacem

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

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...

hrp0095p1-322 | Growth and Syndromes | ESPE2022

Analysis of genetic variability in 134 women with Turner Syndrome using high-throughput next-generation sequencing

P. Suntharalingham Jenifer , Ishida Miho , Cameron-Pimblett Antoinette , M. McGlacken-Byrne Sinead , Del Valle Ignacio , Buonocore Federica , Brooks Anthony , Kaur Madhan Gaganjit , Genomics Sequencing Facility UCL , S. Conway Gerard , C. Achermann John

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

hrp0089p2-p261 | Growth & Syndromes P2 | ESPE2018

Two Different Variants of Short Stature Homeobox-Containing Gene (SHOX) Mutation in the Same Family

Graf Stefanie , Santi Maristella , Losekoot Monique , Fluck Christa E.

Objectives: Deficiency of the short stature homeobox-containing (SHOX) gene is a potential etiology of short stature in children. The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the SHOX-gene and inherited in a pseudo-autosomal dominant manner, is highly variable, even within the same family, ranging from nonspecific short stature to Leri-Weill dyschondrosteosis (LWD). Short stature, mesomelia and Madelung deformity define the classic clin...

hrp0089p3-p261 | Growth & Syndromes P3 | ESPE2018

Leri-Weill Syndrome Phenotype with Atypical Cytogenetic Finding

Mladenov Vilhelm , Iotova Violeta , Angelova Lydmila , Stoyanova Milena , Bogdanova Viktoria

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...