Athanasia Stoupa1,2,3,4, Dulanjalee Kariyawasam1,2,3,4, Marina Muzza5, Tiziana de Filippis5, Laura Fugazzola5,6, Michel Polak1,2,3,4,7, Luca Persani5,8, Aurore Carré9,10. 1. Pediatric Endocrinology, Gynecology, and Diabetology Department, Necker Children's University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. 2. IMAGINE Institute affiliate, INSERM U1163, Paris, France. 3. Cochin Institute, INSERM U1016, Paris, France. 4. RARE Disorder Center: Centre des Maladies Endocriniennes Rares de la Croissance et du Développement, Paris, France. 5. Lab of Endocrine and Metabolic Research, Istituto Auxologico Italiano IRCCS, 20149, Milan, Italy. 6. Department of Pathophysiology and Transplantation, University of Milan, 20100, Milan, Italy. 7. Université de Paris, Sorbonne Paris Cité, Paris, France. 8. Department of Biotechnology and Translational Medicine, University of Milan, 20100, Milan, Italy. 9. IMAGINE Institute affiliate, INSERM U1163, Paris, France. aurore.carre@inserm.fr. 10. Cochin Institute, INSERM U1016, Paris, France. aurore.carre@inserm.fr.
Abstract
INTRODUCTION: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). TD accounts for about 65% of CH, however a genetic cause is identified in less than 5% of patients. PURPOSE: The pathogenesis of CH is largely unknown and may include the contribution of individual and environmental factors. During the last years, detailed phenotypic description of patients, next-generation sequence technologies and use of animal models allowed the discovery of novel candidate genes in thyroid development, function and pathways. RESULTS AND CONCLUSION: We provide an overview of recent genetic causes of primary and central CH. In addition, mode of inheritance and the oligogenic model of CH are discussed.
INTRODUCTION:Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). TD accounts for about 65% of CH, however a genetic cause is identified in less than 5% of patients. PURPOSE: The pathogenesis of CH is largely unknown and may include the contribution of individual and environmental factors. During the last years, detailed phenotypic description of patients, next-generation sequence technologies and use of animal models allowed the discovery of novel candidate genes in thyroid development, function and pathways. RESULTS AND CONCLUSION: We provide an overview of recent genetic causes of primary and central CH. In addition, mode of inheritance and the oligogenic model of CH are discussed.
Authors: Minjing Zou; Ali S Alzahrani; Ali Al-Odaib; Mohammad A Alqahtani; Omer Babiker; Roua A Al-Rijjal; Huda A BinEssa; Walaa E Kattan; Anwar F Al-Enezi; Ali Al Qarni; Manar S A Al-Faham; Essa Y Baitei; Afaf Alsagheir; Brian F Meyer; Yufei Shi Journal: J Clin Endocrinol Metab Date: 2018-05-01 Impact factor: 5.958
Authors: S Acar; S Gürsoy; G Arslan; Ö Nalbantoğlu; F Hazan; Ö Köprülü; B Özkaya; B Özkan Journal: J Endocrinol Invest Date: 2021-11-15 Impact factor: 4.256
Authors: D Gentilini; M Muzza; T de Filippis; M C Vigone; G Weber; L Calzari; A Cassio; M Di Frenna; M Bartolucci; E S Grassi; E Carbone; A Olivieri; L Persani Journal: J Endocrinol Invest Date: 2022-09-07 Impact factor: 5.467
Authors: Maricel F Molina; Patricia Papendieck; Gabriela Sobrero; Viviana A Balbi; Fiorella S Belforte; Elena Bueno Martínez; Ezequiela Adrover; María C Olcese; Ana Chiesa; Mirta B Miras; Verónica G González; Mauricio Gomes Pio; Rogelio González-Sarmiento; Héctor M Targovnik; Carina M Rivolta Journal: Endocrine Date: 2022-05-04 Impact factor: 3.925
Authors: Maria C Opazo; Juan Carlos Rivera; Pablo A Gonzalez; Susan M Bueno; Alexis M Kalergis; Claudia A Riedel Journal: Front Endocrinol (Lausanne) Date: 2021-10-14 Impact factor: 5.555