hrp0095p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

FGFR3 gene mutation causes hypochondroplasia via autophagy inhibition

Che Lin , Wu Jinxia , Xu Ren , Chen Jing

Background: Fibroblast growth factor receptor 3 (FGFR3) is a negative regulator of skeletal development. Gain-of-function point mutations in FGFR3 are responsible for hypochondroplasia (HCH), one of the most common forms of dwarfism in humans. Autophagy is an evolutionarily conserved catabolic process, which is indispensable for cell homeostasis maintenance and stress responses. Dysregulation at the level of autophagic activity consequently disturbs the chondr...

hrp0097p1-25 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A case of hypophosphatasia accompanying neurofibromatosis type 1

Tepe Derya , Gören Refika , Toksoy Adıgüzel Kezban , Kocaay Pınar

Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease. The NF-1 gene is located on chromosome 17 and encodes a gene product called neurofibromin. Mutation or deletion of the NF-1 gene results in phenotypic features involving many systems. Hypophosphatasia is a group of inherited disorders characterized by impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It occurs as a result of a loss-of-...

hrp0092p1-136 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Serum Estradiol is Associated with Inhibin B in Healthy 1-6 Years Old Girls

Birkebaek Niels H. , Schørring Mia E. , Frederiksen Hanne , Kamperis Konstantinos , Kristensen Kurt , Rittig Søren , Juul Anders , Vestergaard Esben T

Background: The female gonadal axis is activated in mini-puberty and thereafter it is quiescent until puberty. We have shown that many girls with no clinical sign of puberty in the age group 1-6 yr. have a rather strong luteinizing hormone (LH) and follicle stimulating hormone (FSH) response to a gonadotropin releasing hormone (GnRH) test. However, stimulated LH and FSH values decreased in the age interval 1-6 yr and no LH/FSH values rose above 0.43. Serum est...

hrp0092p1-338 | Fat, Metabolism and Obesity (2) | ESPE2019

Continuous Score of Metabolic Syndrome (sSMp) in Chilean Pediatric Population is Associated with Insulin Resistance Parameters and Subclinical Endothelial Inflammation

Loureiro Carolina , Cavada Gabriel , Bancalari Rodrigo , Vecchiola Andrea , Tapia Alejandra , Baudrand René , Campino Carmen , Carvajal Cristian , Fardella Carlos , Martíinez Alejandro , García Hernán

Introduction: The dichotomous nature of the definition of Metabolic Syndrome (MS) in both children and adults can under-diagnose subjects at risk and prevents adequate follow-up of therapeutic interventions. Recently, a continuous score of MS (sSMp) was validated in the pediatric population based on the IDF criteria for a population> 16 years.Objectives: To apply sSMp in a Chilean pediatric population cohort and corr...