ESPE Abstracts

This study aimed to investigate the impact of hypogonadism on bone mineral density (BMD) in children and adolescents with chronic diseases to determine the relationship between sex hormones and BMD. Information of children and adolescents with chronic diseases, such as haemato-oncologic, rheumatoid, gastrointestinal, and endocrinologic diseases, was retrospectively collected. Relationship between sex- and Tanner stage-matched z-scores for sex hormones and sex- and age-matched ...

This study was aimed to analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from five medical centers in China. We performed a multicenter retrospective analysis of 74 patients diagnosed with pediatric primary hypoparathyroidism from 2014 to 2023 recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients’ records. WES, MLPA and CMA were utilized to identify the genetic c...

X-linked hypophosphatemia (XLH, MIM#307800) is a rare, dominantly inherited skeletal disorder characterized by excessive production and elevated circulating levels of fibroblast growth factor 23 (FGF23) resulting in renal phosphate wasting, hypophosphatemia, and defective bone mineralization. This leads to rickets, osteomalacia, pain, skeletal deformities, short stature, and reduced physical function. Recently, a monoclonal FGF23 antibody (burosumab) has become available as a ...

Objective: Type E brachydactyly (BDE) is characterized by shortening of the metacarpal/metatarsal bones, with the phalanges also potentially affected. This study analyzes the clinical features and genotype-phenotype correlations of BDE in children.Methods: This study selected 135 patients with BDE who visited the Children's Hospital affiliated with Soochow University from June 2021 to December 2023 and completed a b...

Objective: Hypophosphatasia (HPP) is a monogenic metabolic bone disease characterized by skeletal and dental mineralization disorders and paradoxically low serum alkaline phosphatase (ALP) activity. The pathogenic gene for HPP is ALPL, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). The purpose of this study is to determine the prevalence of HPP among the population in Suzhou and explore the genotypic spectrum of ALPL gene in ...

Background: Adipokines have been demonstrated to regulate bone metabolism and impact bone strength. Previous studies have investigated the potential influence of leptin and adiponectin on the risks of vertebral fracture (VF) and bone mineral density (BMD) in healthy children and postmenopausal women, however, the outcomes of these investigations remain controversy.Objectives: To determine plasma leptin and adiponectin le...

Introduction: Serum phosphate concentration is regulated by renal phosphate reabsorption, mediated by sodium–phosphate cotransporters. Germline heterozygous mutations of SLC34A1, encoding for the renal sodium–phosphate cotransporter NPT2, are associated with the autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1. FGF23 acts upon its specific receptor FGFR1 to down-regulate the number of NPT2 luminal channels. In X-link...

Objectives: HPP is a multisystem disorder caused by ALPL variants that lead to ALP deficiency and excessive inorganic pyrophosphate, which inhibits mineralization of bones and teeth. A range of symptoms is associated with HPP inherited in an autosomal dominant manner that can manifest at any stage of life, making diagnosis difficult. The traditional method of classifying HPP into different types based on the onset of symptoms (prenatal benign, perinat...

Background: Vosoritide is a biological analogue of C-type natriuretic peptide, which promotes endochondral ossification by suppressing FGFR3 downstream signaling in achondroplasia (ACH). It is the first drug targeting the pathophysiology of ACH and was launched in Japan in August 2022, for the first time in the world without a minimum age limit. There have been no reports on the efficacy and safety of vosoritide other than clinical trials.<p class="abstext...

Background: The calcium-sensing receptor (CASR) is Class C G protein-coupled receptor (GPCR). CASR is responsible of calcium set point and it is expressed in several tissues: parathyroid, C-Cells, and kidney cells. CASR activating mutations are responsible of autosomal dominant hypocalcaemia 1 (ADH1; OMIM # 601198) and more than 100 different mutations have been described. ADH1 is not always associated with hypercalciuria. Nagase et al. described for ...

Background: Inflammatory diseases, such as inflammatory bowel disease or juvenile idiopathic arthritis may lead to growth retardation. One of the key players in inflammatory conditions is TNFa which also triggers other inflammatory cytokines exerting its growth suppressive effects locally at the growth plate level and systemically at the pituitary level leading to a suppression of the GH/IGF-1-axis. Mechanical loading has been regarded as one of the primary fu...