ESPE Abstracts

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...

Background: Microdeletion of 14q22q23 results in a rare chromosomal disorder associated with microphthalmia/anophthalmia, pituitary anomalies, polydactyly/syndactyly, micrognathia, growth restriction and mental retardation. Haploinsufficiency of the genes OTX2 (orthodenticle homeobox 2) and BMP4 (bone morphogenetic protein 4) are responsible for most of the phenotypic features in the 14q22q23 microdeletion syndrome. There are only a few reports about liver dys...

Background: Difficulty of glycemic control varies among subjects with type 1 diabetes (T1D). Influence of residual endogenous insulin detected by serum C-peptide (CPR) levels has noted to be on glycemic control. Flush glucose monitoring (FGM) detects glucose concentration in intercellular fluid (sensor glucose) every 15 minutes to reveal daily glucose profiles.Aims: We tried to clarify the relationship between serum CPR and the excursion of blood glucose...

Introduction: Iodide transport in the thyroid is crucial for thyroid hormone synthesis. A homozygous loss-of-function mutation in the SLC26A4gene coding an iodide transporter located at the apical side in the thyroid follicular cells causes Pendred syndrome accompanied with goitrous congenital hypothyroidism (CH) and sensorineural deafness. However, about half of patients with Pendred syndrome demonstrate normal thyroid function. This indicates anothe...

Background: Information on sex hormone levels in young children is currently lacking, because those levels are generally below the lower limit of quantitation of conventional immunoassay methods. We investigated sex differences in serum levels of sex hormones in relation to upstream hormones and other background factors in young children, using liquid chromatography-tandem mass spectrometry (LC-MS/MS).Methods: This cross-sectional study enrolled 151 chil...