The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Autor: Levaillant L; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France., Bouhours-Nouet N; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France., Illouz F; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.; Department of Endocrinology, Diabetes and Nutrition, University Hospital of Angers, 49000 Angers, France., Amsellem Jager J; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France., Bachelot A; Department of Endocrinology and Reproductive Medicine, Hôpital Pitié-Salpêtrière, ICAN, 75651 Paris, France., Barat P; Pediatric Endocrinology, CHU de Bordeaux, 33000 Bordeaux, France., Baron S; Pediatrics Department, CHU Nantes, 44000 Nantes, France., Bensignor C; Pediatrics Department, CHU de Dijon, 21000 Dijon, France., Brac De La Perriere A; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, 69677 Bron, France., Braik Djellas Y; Department of Endocrinology and Reproductive Medicine, Hôpital Pitié-Salpêtrière, ICAN, 75651 Paris, France., Caillot M; Pediatrics Department, CH de Martigues, 13500 Martigues, France., Caldagues E; Pediatrics Department, CHU Nantes, 44000 Nantes, France., Campas MN; Pediatrician, 64445 Pau, France., Caquard M; Pediatrics Department, CHU Nantes, 44000 Nantes, France., Cartault A; Endocrine, Genetics, Bone Diseases, and Paediatric Gynecology Unit, Children's Hospital, CHU Toulouse, 31059 Toulouse, France., Cheignon J; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France., Decrequy A; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France., Delemer B; Department of Endocrinology, Diabetes and Nutrition, CHU de Reims-Hôpital Robert-Debré, 51100 Reims, France., Dieckmann K; Pediatrics Department, CH de Blois, 41000 Blois, France., Donzeau A; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France., Doye E; Pediatrician, 69130 Ecully, France., Fradin M; Service de Génétique, CLAD Ouest, CHU Rennes, 35200 Rennes, France., Gaudillière M; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, 69677 Bron, France., Gatelais F; Pediatrician, 49000 Angers, France., Gorce M; Service de Génétique, 49000 Angers Cedex 9, France., Hazart I; Pediatrics Department, CHU Nantes, 44000 Nantes, France., Houcinat N; CHU Dijon, Centre de référence maladies rares Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU TRANSLAD, CHU Dijon Bourgogne 21000, France., Houdon L; Pediatric Diabetology, University Hospital, St Pierre de la Reunion 97410, France., Ister-Salome M; Pediatric Endocrinology, Jeanne de Flandre Hospital, 59037 Lille, France., Jozwiak L; Pediatrics Department, CH de Roubaix, 59100 Roubaix, France., Jeannoel P; Pediatrics Department, CH de Roanne, 42328 Roanne, France., Labarthe F; Reference Center for Inborn Errors of Metabolism, Tours University Hospital, 37044 Tours, France., Lacombe D; Department of Medical Genetics, CHU Bordeaux INSERM U1211, Université de Bordeaux, 33076 Bordeaux, France., Lambert AS; AP-HP, Bicêtre Paris Saclay Hospital, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre 94270, France., Lefevre C; Pediatric Endocrinology, Jeanne de Flandre Hospital, 59037 Lille, France., Leheup B; Service de Génétique clinique, Höpital Brabois, Centre Hospitalier Universitaire de Nancy, Nancy, Lorraine 54500, France., Leroy C; Service d'Endocrinologie et Maladies Métaboliques, Centre Hospitalier Régional Universitaire de Lille, Hôpital Huriez, 59037 Lille, France., Maisonneuve B; Pediatrics Department, CH de Montlucon, 03100 Montlucon, France., Marchand I; Pediatrics Department, CHI de Créteil, 94010 Créteil, France., Marquant E; Assistance-Publique des Hôpitaux de Marseille, Department of Pediatrics, Hôpital de la Timone Enfants, 13005 Marseille, France., Muszlak M; Pediatrics Department, CH de Mayotte, 97600 Mayotte, France., Pantalone L; Pediatrics Department, CH René Dubos, 95300 Pontoise, France., Pochelu S; Pediatric Endocrinology, CHU de Bordeaux, 33000 Bordeaux, France., Quelin C; Service de Génétique, CLAD Ouest, CHU Rennes, 35200 Rennes, France., Radet C; Pediatrics Department, CH de Cholet, 49300 Cholet, France., Renoult-Pierre P; Service de Médecine Interne, Unité d'Endocrinologie Diabétologie et Nutrition, Centre Hospitalier Universitaire et Faculté de Médecine, Université de Tours, 37044 Tours, France., Reynaud R; Assistance-Publique des Hôpitaux de Marseille, Department of Pediatrics, Hôpital de la Timone Enfants, 13005 Marseille, France., Rouleau S; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France., Teinturier C; AP-HP, Bicêtre Paris Saclay Hospital, DMU SEA, Endocrinology and Diabetes for Children, Le Kremlin Bicêtre 94270, France., Thevenon J; Inserm UMR 1231 GAD Team, Genetics of Developmental Anomalies, and FHU-TRANSLAD, CHU/Université de Bourgogne-Franche Comté, 21000 Dijon, France., Turlotte C; Pediatrics Department, CH d'Armentieres, 59280 Armentieres, France., Valle A; Pediatrics Department, CH de Douai, 59187 Douai, France., Vierge M; Assistance-Publique des Hôpitaux de Marseille, Department of Pediatrics, Hôpital de la Timone Enfants, 13005 Marseille, France., Villanueva C; Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, 69677 Bron, France., Ziegler A; Service de Génétique, 49000 Angers Cedex 9, France., Dieu X; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.; Biochemistry and Molecular Biology Laboratory, University Hospital of Angers, 49000 Angers, France., Bouzamondo N; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.; Biochemistry and Molecular Biology Laboratory, University Hospital of Angers, 49000 Angers, France., Rodien P; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.; Department of Endocrinology, Diabetes and Nutrition, University Hospital of Angers, 49000 Angers, France., Prunier-Mirebeau D; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.; Biochemistry and Molecular Biology Laboratory, University Hospital of Angers, 49000 Angers, France., Coutant R; Department of Pediatric Endocrinology and Diabetology, University Hospital of Angers, 49000 Angers, France.; Reference Center for Rare Diseases of Thyroid and Hormone Receptivity, University Hospital of Angers, 49000 Angers, France.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Aug 18; Vol. 108 (9), pp. e779-e788.