hrp0089p1-p159 | Growth & Syndromes P1 | ESPE2018

Does X-Chromosome Gene Dosage Determine Growth and Phenotypic Features in Turner Syndrome with 45,X/46,XX Mosaicism on Standard Karyotyping? A Cross-Sectional Analysis of the French National Rare Disease Network Database

Fiot Elodie , Zenaty Delphine , Pick Paul , Boizeau Patricia , Haignere Jeremy , Dos Santos Sophie , Christin-Maitre Sophie , Carel Jean-Claude , Leger Juliane , Turner Syndrome Study Group French

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...

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

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...

hrp0095p1-235 | Diabetes and Insulin | ESPE2022

Etiology-based diagnosis of pediatric patients with atypical diabetes using routine and omic-based phenotyping and genotyping: results from the GENEPEDIAB study

Welsch Sophie , Gallo Paola , Beckers Dominique , Lebrethon Marie-Christine , Mouraux Thierry , Seret Nicole , Lysy Philippe

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...

hrp0095p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Long term effects of continuous subcutaneous infusion of recombinant LH and FSH during infancy on testicular function in congenital hypogonadotropic hypogonadism.

Sophie Lambert Anne , Avril Tristan , Teinturier Cecile , Rothenbuhler Anya , Linglart Agnes , Bouvattier Claire

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...

hrp0095p2-69 | Diabetes and Insulin | ESPE2022

Impact of β-cell function and glucose effectiveness on the development of type 2 diabetes mellitus in obese European children and adolescents

Ellen Kratzer Sophie , Vogt Josef , Kohlsdorf Katja , von Schnurbein Julia , Wabitsch Martin , Denzer Christian

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.</...

hrp0092t9 | Top 20 Poster | ESPE2019

Empagliflozin and GABA Improve β-Cell Mass and Glucose Tolerance in New-Onset Type 1 Diabetes

Daems Caroline , Welsch Sophie , Boughaleb Hasnae , Vanderroost Juliette , Robert Annie , Sokal Etienne , Lysy Philippe

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...

hrp0092p1-171 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Evaluation of Bone Health in Adolescents and Young Adults After Allogeneic Human Stem Cell Transplantation in Childhood: A Single Center Cross-Sectional Study

De Waele Kathleen , Tack Lloyd , Bordon Victoria , Van Lancker Sophie , Dhooge Catharina , Cools Martine

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...

hrp0089p2-p043 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Metabolic Syndrome in Children with X-linked Hypophosphatemic Rickets (XLHR)

Lambert Anne-Sophie , Saadeddine Sanaa , Rothenbuhler Anya , Ussardi Alessia , Trabado Severine , Linglart Agnes

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...

hrp0089p2-p044 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

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...

hrp0089p1-p066 | Diabetes &amp; Insulin P1 | ESPE2018

Complexities in the Management of New-Onset Diabetes after Transplantation (Nodat) in an Adolescent with Senior-Loken Syndrome

Bowen Philippa , Garde Alison , Adams Rebekah , Velleman Sophie , Inward Carol , Giri Dinesh

Background: New-Onset Diabetes after Transplant (NODAT) is a well characterized entity in adult population but less described in paediatric and adolescent population. The development of NODAT is associated with reduced graft function. The consensus for its management is largely available for adult population with a lack of specific guidelines applicable to the paediatric population.Case: A 16-year-old patient with an established renal failure and visual ...