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...

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...

hrp0092lb-4 | Late Breaking Posters | ESPE2019

Resistance to Thyroid Hormone Alpha Associated with Early-Onset Severe NASH

Pautasso Valentina , Dumant-Forrest Clémentine , Guerrot Anne-Marie , Fraissinet François , Savagner Frédérique , Castanet Mireille

Introduction: Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with barely normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia, growth retardation, constipation, dyspraxia and intellectual deficit. Hormonal assessment often shows decreased/low-normal free thyroxine (fT4) and increased/high-normal free triiodothyronine (fT3) concentrations, resulting in a low...

hrp0082p1-d3-97 | Sex Development | ESPE2014

46, XX Ovotesticular Disorder of Sex Development: Potential Role of 13q31.1

Girardin Celine M , Dirlewanger Mirjam , Bena Frederique , Nef Serge , Rougemont Anne-Laure , Birraux Jacques , Schwitzgebel Valerie M

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

hrp0084p1-163 | Miscelleaneous | ESPE2015

Paediatric Thyroid Nodule Score: Derivation and Validation of a Predictive Score for Thyroid Nodule Assessment in Children

van der Kaay Danielle , Wasserman Jonathan , Akseer Nadia , Roskies Michael , Liberte Frederique la , Nguyen Lily , Puligandla Pramod

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

hrp0082p1-d3-102 | Sex Development | ESPE2014

Four Cases of Isolated Partial Gonadal Dysgenesis Due to nr0b1 (dax1) Locus Duplication Inherited in a Large Family

Mahler Kathy Wagner , Devos Caroline , Kurzenne Jean Yves , Gastaud Frederique , Hoflack Marie , Mallet Delphine , Benailly Houda Karmous , Giuliano Fabienne , Simonin Gilbert , Sanlaville Damien , Morel Yves

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

hrp0082p2-d1-570 | Sex Development | ESPE2014

Four Cases of Isolated Partial Gonadal Dysgenesis due to NR0B1 (DAX1) Locus Duplication Inherited in a Large Family

Wagner Mahler Kathy , Devos Caroline , Kurzenne Jean Yves , Gastaud Frederique , Hoflack Marie , Mallet Delphine , Karmous Benailly Houda , Giuliano Fabienne , Simonin Gilbert , Sanlaville Damien , Morel Yves

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...