title: Update of Thyroid Developmental Genes.
abstract: Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine-sufficient regions and includes a spectrum of developmental anomalies. The genetic components of TD are complex. Although a sporadic disease, advances in developmental biology have revealed monogenetic forms of TD. Inheritance is not based on a simple Mendelian pattern and additional genetic elements might contribute to the phenotypic spectrum. This article summarizes the key steps of normal thyroid development and provides an update on responsible genes and underlying mechanisms of TD. Up-to-date technologies in genetics and biology will allow us to advance in our knowledge of TD.
authors.affiliation: Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, Assistance Publique Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France; Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France.
authors.forename: Athanasia
authors.initials: A
authors.lastname: Stoupa
authors.affiliation: Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, Assistance Publique Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France; Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France; Cochin Institute, Inserm U1016, 22 rue Mechain, 75014, Paris, France.
authors.forename: Dulanjalee
authors.initials: D
authors.lastname: Kariyawasam
authors.affiliation: Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France; Cochin Institute, Inserm U1016, 22 rue Mechain, 75014, Paris, France.
authors.forename: Aurore
authors.initials: A
authors.lastname: Carré
authors.affiliation: Pediatric Endocrinology, Diabetology and Gynecology Department, Necker Enfants-Malades University Hospital, Assistance Publique Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France; Imagine Institute, Inserm U1163, 24 boulevard du Montparnasse, 75015, Paris, France; Cochin Institute, Inserm U1016, 22 rue Mechain, 75014, Paris, France; Paris Descartes University, Sorbonne Paris Cité, 12 rue de l'École de Médecine, 75006, Paris, France. Electronic address: michel.polak@aphp.fr.
authors.forename: Michel
authors.initials: M
authors.lastname: Polak
mesh_terms: D003409:Congenital Hypothyroidism / Q000235:genetics*; D050437:Genes, Developmental; D006801:Humans; D007455:Iodine / Q000172:deficiency; D050033:Thyroid Dysgenesis / Q000235:genetics*; D013961:Thyroid Gland / Q000196:embryology
chemical_list: D007455:Iodine
keywords: Congenital hypothyroidism; Epigenetics; Genetics; Mendelian inheritance; Thyroid development; Thyroid dysgenesis; Thyroid gland; Transcription factors