hrp0086s1.3 | Innovative therapies in bone and mineral metabolism | ESPE2016

Advances in Treatment of Achondroplasia

Legeai-Mallet Laurence

Skeletal development is a temporally-regulated non-linear process orchestrated by a complex genetic network that proceeds via two distinct ossification mechanisms, namely membranous and endochondral ossification. Genetic disorders of the skeletal system affect both bone and cartilage formation from early fetal development up to post-natal growth. Fibroblast growth factor receptor 3 (FGFR3) is an important regulator of bone formation. Achondroplasia is the most common form of d...

hrp0092p1-303 | Adrenals and HPA Axis (2) | ESPE2019

Hypothalamo-Pituitary-Adrenal (HPA) Axis in Infants Exposed to Corticosteroids During Fetal Life

Auriche Morgane , Houang Muriel , Giabicani Eloise , Mitanchez Delphine , Netchine Irène

Background: Prednisolone, prednisone, and hydrocortisone, are used during pregnancy, in women with thrombocytopenia, auto immune or inflammatory diseases. The current belief speculates on the absence of adverse effects on the hypothalamo-pituitary-adrenal (HPA) axis of the fetus, thanks to placental 11BHSD2 inactivation.Objective and Hypotheses: We analyzed the results of ATCH tests routinely performed in neonates expose...

hrp0094fc10.3 | Thyroid | ESPE2021

Genetic analyses in patients having congenital hypothyroidism with gland-in-situ by next-generation sequencing

Levaillant Lucie , Bouhours-Nouet Natacha , Illouz Frederic , Bouzamondo Nathalie , Rodien Patrice , Prunier-Mirebeau Delphine , Coutant Regis ,

Introduction: Primary Congenital Hypothyroidism (CH) is an abnormal function of the thyroid gland present at birth. Anomalies of thyroid function are usually classified between thyroid dysgenesis, corresponding to an abnormal embryological development of the thyroid, and CH with gland-in-situ (GIS), resulting from mutations in genes involved in thyroid hormone synthesis. We report 105 patients with CH with GIS that have been referred to Angers University Hospi...

hrp0082fc4.5 | Growth | ESPE2014

Fetal and Postnatal Growth in Turner Syndrome and their Associations with the Dosage Effects of the X-Linked Gene: a Cross-Sectional Data Base Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Santos Sophie Dos , Boizeau Priscilla , Haignere Jeremie , Leger Juliane , and the French Turner Syndrome Study Group

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

hrp0082p1-d2-251 | Thyroid (1) | ESPE2014

Triiodothyronine-Predominant Graves’ Disease (T3-P-GD): Description and Management in Childhood

Harvengt Julie , Boizeau Priscilla , Zenaty Delphine , Paulsen Anne , Simon Dominique , Crepon Sophie Guilmin , Alberti Corinne , Carel Jean-Claude , Leger Juliane

Background: T3-P-GD, a severe, rare disorder well known in adults, has not previously been described in children. It is characterized by persistently high serum fT3 concentration and normal, or even low, fT4 concentration during drug treatment. This condition is associated with very high titers of TRAb and large goiters, but its pathogenesis remains unclear. The recognition of this form of GD in children is of particular importance, as higher antithyroid ...

hrp0084p1-141 | Turner & Puberty | ESPE2015

Adult Height after Growth Hormone Treatment and its Association with X Chromosome Dosage in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Fiot Elodie , Zenaty Delphine , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Leger Juliane , FrenchTurner Syndrome Study Group

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

hrp0092rfc3.2 | Multi-system Endocrine Disorders | ESPE2019

Factors Affecting Loss to Follow-Up for Patients with Chronic Endocrine Conditions During the Pediatric Period: A Cohort Study at a Reference Center for Rare Diseases

Atger-Lallier Laura , Guilmin-Crepon Sophie , Boizeau Priscilla , Zenaty Delphine , Simon Dominique , Paulsen Anne , Martinerie Laetitia , Storey Caroline , Carel Jean-Claude , Leger Juliane

Introduction: Most patients with endocrine diseases diagnosed during childhood require long-term continuity of care. A lack of regular medical follow-up visits may be associated with impaired long-term health outcomes, with greater risks of morbidity and mortality. The importance and challenges of the transition from pediatric to adult healthcare are well recognized, but few studies have considered loss to follow-up during pediatric care. We investigated the p...

hrp0089rfc9.5 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Non-Isolated Central Precocious Puberty: Prevalence of Brain Lesions and Other Associated Disorders

Wannes Selmen , El Maleh Monique , De Roux Nicolas , Zenaty Delphine , Simon Dominique , Martinerie Laetitia , Storey Caroline , Gelwane Georges , Paulsen Anne , Ecosse Emmanuel , Jean-claude Carel , Juliane Leger

Background: Non-idiopathic central precocious puberty (CPP) is caused by acquired or congenital hypothalamic lesions visible on magnetic resonance imaging (MRI), or associated with various complex genetic and/or syndromic disorders without visible lesions on MRI. We investigated the different types and prevalences of non-isolated CPP phenotypes in a large group of consecutive patients with CPP.Methods: This observational cohort study included all patient...

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...