Article
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
The Journal of clinical endocrinology and metabolism - 18 Aug 2023
Levaillant Lucie, Bouhours-Nouet Natacha, Illouz Frédéric, Amsellem Jager Jessica, Bachelot Anne, Barat Pascal, Baron Sabine, Bensignor Candace, Brac De La Perriere Aude, Braik Djellas Yasmine, Caillot Morgane, Caldagues Emmanuelle, Campas Marie-Neige, Caquard Marylène, Cartault Audrey, Cheignon Julie, Decrequy Anne, Delemer Brigitte, Dieckmann Katherine, Donzeau Aurélie, Doye Emilie, Fradin Mélanie, Gaudillière Mélanie, Gatelais Frédérique, Gorce Magali, Hazart Isabelle, Houcinat Nada, Houdon Laure, Ister-Salome Marielle, Jozwiak Lucie, Jeannoel Patrick, Labarthe Francois, Lacombe Didier, Lambert Anne-Sophie, Lefevre Christine, Leheup Bruno, Leroy Clara, Maisonneuve Benedicte, Marchand Isis, Marquant Emeline, Muszlak Matthias, Pantalone Letitia, Pochelu Sandra, Quelin Chloé, Radet Catherine, Renoult-Pierre Peggy, Reynaud Rachel, Rouleau Stéphanie, Teinturier Cécile, Thevenon Julien, Turlotte Caroline, Valle Aline, Vierge Melody, Villanueva Carine, Ziegler Alban, Dieu Xavier, Bouzamondo Nathalie, Rodien Patrice, Prunier-Mirebeau Delphine, Coutant Régis
Abstract excerpt
INTRODUCTION: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that the molecular yield of targeted NGS would depend on the severity of CH. METHODS: Targeted NGS was performed in 103 CH-GIS patients from the...
Read the complete abstract on PubMed