hrp0086rfc11.5 | Thyroid | ESPE2016

Novel Homozygous Mutation in the Sodium/Iodide Symporter (NIS) Gene Highlight by Next Generation Sequencing (NGS) in a Patient with Congenital Hypothyroidism

Petit Isabelle Oliver , Gennero Isabelle , Savagner Frederique

Background: The ability to concentrate iodide actively is a characteristic feature of the thyroid gland. This function is mediated through the sodium iodine symporter (NIS), a glycoprotein located in thyrocytes’membrane. Iodide transport defect (ITD) by NIS defects can result in hypothyroidism with variable degree of goiter and low to absent radio iodide uptake. Mutations in SLC5A5 gene encoding NIS are reported to be a rare form of dyshormonogenetic congenital hypothyroi...

hrp0089p1-p260 | Thyroid P1 | ESPE2018

Multinodular Goiter in Childhood: A Diagnostic Gateway for Screening DICER1 Syndrome

Petit Isabelle Oliver , Grunenwald Solange , Golmard Lisa , Savagner Frederique

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

hrp0084p1-132 | Thyroid | ESPE2015

Severe Hyperthyroidism in an Infant Revealed a Familial Non-Autoimmune Hyperthyroidism with Novel Heterozygous Thyrotropin Receptor Gene Mutation

Petit Isabelle Oliver , Savagner Frederique , Edouard Thomas , Caron Philippe

Background: The familial non-autoimmune hyperthyroidism (FNAH) is a hereditary disease caused by dominant activating mutations of the TSH receptor (TSHR) gene and rare in the paediatric population.Case presentation: A 20-month girl was referred for tachycardia. In personal history, she was delivered at 35 weeks of gestation by caesarean for fœtal tachycardia; she had been hospitalised at 1 and 5 months for diarrhoea and tachycardia was noticed. Clin...

hrp0086fc15.3 | Late Breaking | ESPE2016

Contribution of Next Generation Sequencing Approach for Management of Congenital Hypothyroidism with Eutopic Thyroid Gland

Savagner Frederique , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe , Petit Isabelle Oliver

Background: Congenital hypothyroidism (CH) is referred to dyshormonogenesis for 15 to 30%. Homozygous mutations associated have been demonstrated in DUOX2, TPO, TG, SLC5A5 (NIS), SLC26A4 (Pendred), DUOXA2, and IYD (DEHAL1) genes.Objective and hypotheses: Previous studies focusing on one or few thyroid-specific genes have proved not to be comprehensive enough for understanding physiopathological mechanisms of HC with dyshormonogenesis. Emerging diagnostic...

hrp0086p1-p743 | Pituitary and Neuroendocrinology P1 | ESPE2016

Proton Therapy as a Promising Therapeutic Option for Children with Aggressive and Uncontrolled Pituitary Macro Adenoma: A Case Report

Petit Isabelle Oliver , Bertozzi Anne-Isabelle , Boetto Sergio , Sevely Annick , Tauber Maithe , Caron Philippe , Alapetite Claire

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

hrp0082p2-d3-439 | Growth Hormone (2) | ESPE2014

GH Dosing Patterns in Short Children Born Small for Gestational Age

Petit Isabelle Oliver , Blankenstein Oliver , Zdravkovic Dragan , Tonnes Pedersen Birgitte , Pournara Effie

Introduction: In Europe, GH is approved for short (height SDS <−2.5) children born small for gestational age (SGA) who fail to show catch-up growth by 4 years of age.Methods: This report analysed the patterns of GH dose used in everyday clinical practice based on short children born SGA enrolled in NordiNet® IOS, an observational study evaluating the long-term effectiveness and safety of Norditropin®. Average GH ...

hrp0084p3-1197 | Thyroid | ESPE2015

Congenital Hypothyroidism Incidence and Dysgenesis or Dyshormonogenesis Prevalence in a Large Infants Cohort from South of France

Petit Isabelle Oliver , Lobinet Emilie , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants with prevalence ratio in the range of 1:2000–1:4000 new-borns. The disorder can be permanent (CHP) or transient (CHT). CH can be classified into two main groups: Dysgenesis, which accounts classically for 80–85% of cases and dyshormonogenesis for remaining 15–20%. From the last decade, studies described a upward trend for CH prevalence and changes in groups’ proport...

hrp0092p1-150 | Thyroid | ESPE2019

Acquired Von Willebrand's Syndrome Caused by Primary Hypothyroidism in a 5-Year-Old Girl

Flot Claire , Edouard Thomas , Tauber Maïthé , Oliver Isabelle , Claeyssens Segolene , Savagner Frederique , Caron Philippe

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

hrp0084p3-1101 | Pituitary | ESPE2015

Baseline Characteristics, GH Response, and Long term Evolution in 67 Patients with Pituitary Stalk Interruption According to the Initial Presentation

Bar Celine , Zadro Charline , Diene Gwenaelle , Oliver Isabelle , Pienkowski Catherine , Jouret Beatrice , Audrey Cartault , Sevely Annick , Tauber Maithe , Edouard Thomas

Background: Pituitary stalk interruption syndrome (PSIS) is a frequent cause of congenital hypopituitarism. Patients are initially referred for the evaluation of hypoglycemia during the neonatal period or growth retardation during infancy or childhood. PSIS are either associated with extra-pituitary malformations (EPM+) or isolated (EPM−).Objective and hypotheses: To compare baseline characteristics, GH response, and long term evolution in patients...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...