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...

hrp0089p2-p390 | Thyroid P2 | ESPE2018

Multinodular Goiter in Childhood: Look for DICER1 Mutation

Suteau Valentine , Isabelle Souto , Natacha Bouhours-Nouet , Maryam Azgal , Justine Bailleul , Marie-Neige Campas , Aurelie Donzeau , Patrice Rodien , Regis Coutant

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

hrp0086p1-p594 | Growth P1 | ESPE2016

Somapacitan, a Once-Weekly Reversible Albumin-Binding Growth Hormone (GH) Derivative, Is Well Tolerated and Convenient in Adults with GH Deficiency (AGHD): Results from a 26-Week Randomised, Controlled Phase 3 Trial

Johannsson Gudmunder , Feldt-Rasmussen Ulla , Holme Haakonsson Ida , Biering Henrik , Rodien Patrice , Tahara Shigeyuki , Toogood Andrew , Hojby Michael

Background: Growth hormone (GH) replacement as daily s.c. injections for patients with adults with GH deficiency (AGHD) can be cumbersome. Somapacitan (Novo Nordisk), a once-weekly reversible albumin-binding GH derivative, has been shown in short-term trials to be well tolerated in healthy adults and in patients with AGHD.Objective and hypotheses: This trial was a multinational, multicentre, randomised (2:1), open-label, active-controlle...

hrp0086p2-p703 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

French National Healthcare Network for Rare Endocrine Diseases (FIRENDO): The First Year of Activity to Monitor Patients with Rare Endocrine Diseases

Givony Maria , Minime Fanny , Lopes Euma Fortes , Varillon Yvonne , Le Verger Delphine , Ghenim Sabine , Provost Marion , Rahabi-Layachi Haifa , Bouvattier Claire , Polak Michel , Brue Thierry , Nunes Marie-Laure , Delemer Brigitte , Netchine Irene , Mouriquand Pierre , Borson-Chazot Francoise , Bony-Trifunovic Helene , Rodien Patrice , Juliane Leger , Bertherat Jerome

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO ( includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...

hrp0094fc10.2 | Thyroid | ESPE2021

Prevalence and outcome of Congenital Central Hypothyroidism: A Multicenter Study

Lucie Levaillant , German , Almashanu , De Vries Liat , Gil Merav , Halloun Rana , Haim Alon , Eyal Ori , Magid Yael , Levi Floris , Pivko-Levi Dikla , Nir Judith , Pinhas-Hamiel Orit , Tenenbaum-Rakover Yardena , Natacha Bouhours-Nouet , Frederic Illouz , Nathalie Bouzamondo , Patrice Rodien , Delphine Prunier-Mirebeau , Regis Coutant

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...