ESPE Abstracts

Background: Heterozygous inactivating mutations in the calcium sensing receptor (CaSR) gene cause mild hypercalcemia, normal to slightly elevated parathormone (PTH) levels and may vary from an asymptomatic clinical picture to a mild course. This clinical picture is also called familial hypercalcemic hypocalciuria. In this study, it is aimed to present two sibling cases due to CaSR mutation with interesting features.Case...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

Objective: To provide etiology-based diagnostics to pediatric patients with diabetes in Belgium using routine clinical phenotyping and thorough genotyping.Methods: A Belgian GENEPEDIAB study consortium was created to screen, using routine diagnostic tools, for monogenic forms of diabetes in pediatric patients followed in convention centers for type 1 or type 2 diabetes, while presenting atypical biological and clinical f...

Context: We previously observed that continuous subcutaneous infusion (CSI) of gonadotropins in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic the hormonal pattern of minipuberty.Objective: Describe the peripubertal outcome in gonadotropins CSI treated patients.Patients: A retrospective study was realised in Bicetre Hospital between 2004 and 2022. Follow-up d...

Objectives: Despite high prevalence rates of childhood obesity, youth-onset T2DM occurs in a comparably lower incidence in Europe than in other world regions. Available data from cohorts of obese children and adolescents living in the US suggest a parallel decline of insulin sensitivity and β-cell function as key factors in the pathophysiology of early-onset T2DM. If these results can be applied to European children and adolescents is currently unknown.</...

Presently, the autoimmune character of T1D is challenged, but it is indisputable that inflammation plays a key role in its development. We hypothesized that glucotoxicity could contribute to β-cell mass destruction through maintenance of inflammation. Here, we aimed to evaluate, after diabetes onset, the potential of empagliflozin (EMPA) to protect β-cell mass against glucotoxicity, in monotherapy or in association with GABA, tested for its potential to increas...

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...