Fisher DA. Second International Conference on Neonatal Thyroid Screening: progress report. J Pediatr 1983;102:653–4.Google Scholar
Bikker H, Baas F, De Vijlder JJ. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. J Clin Endocrinol Metab 1997;82: 649–53.Google Scholar
Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, et al. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab 2001;86:2009–14.Google Scholar
Brown RS, Demmer LA. The etiology of thyroid dysgenesis-still an enigma after all these years. J Clin Endocrinol Metab 2002;87:4069–71.Google Scholar
LaFranchi S. Congenital hypothyroidism: etiologies, diagnosis and management. Thyroid 1999;9:735–40.Google Scholar
Clerc J. Imaging the thyroid in children. Best Pract Res Clin Endocrinol Metab 2014;28:203–20.Google Scholar
Hoseini M, Hekmatnia A, Hashemipour M, Basiratnia R, Omidifar N, et al. Sonographic assessment of congenitally hypothyroid children in Iran. Endokrynol Pol 2010;61:665–70.Google Scholar
Hashemipour M, Ghasemi M, Hovsepian S, Heiydari K, Sajadi A, et al. Etiology of congenital hypothyroidism in Isfahan: does it different? Adv Biomed Res 2014;9:3–21.Google Scholar
Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet 2005;42:379–89.Google Scholar
UK10K Consortium, Walter K, Min JL, Huang J, Crooks L, et al The UK10K Project identifies rare variants in health and disease. Nature 2015;526:82–90.Google Scholar
Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, et al. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect. Thyroid 2003;13:1145–51.Google Scholar
Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, et al. Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab 2009;94:1706–12.Web of ScienceGoogle Scholar
Ambrugger P, Stoeva1 I, Biebermann H, Torresani T, Leitner C, et al. Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism. Eur J Endocrinol 2001;145:19–24.Google Scholar
Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, et al. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol 2009;71:739–45.Web of ScienceGoogle Scholar
Al-Hosani H, Salah M, Saade D, Osman H, Al-Zahid J. United Arab Emirates National newborn screening programme: an evaluation 1998–2000. East Mediterr Health J 2003;9:324–32.Google Scholar
Olivieri A, Stazi MA, Mastroiacovo P, Fazzini C, Medda E, et al. A population-based study on the frequency of additional congenital malformations in infants with congenital hypothyroidism: data from the Italian Registry for Congenital Hypothyroidism (1991–1998). J Clin Endocrinol Metab 2002;87:557–62.Google Scholar
Baş VN, Ozgelen S, Cetinkaya S, Aycan Z. Diseases accompanying congenital hypothyroidism. J Pediatr Endocrinol Metab 2014;27:485–9.Google Scholar
Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypothyroidism and associated birth, defects, Atlanta, 1979-1992. Am J Med Genet 1997;71:29–32.Google Scholar
Tillotson SL, Fuggle PW, Smith I, Ades AE, Grant DB. Relation between biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effect. Br Med J 1994;309:440–5.Google Scholar
Perry RJ, Maroo S, Maclennan AC, Jones JH, Donaldson MD. Combined ultrasound and isotope scanning is more informative in the diagnosis of congenital hypothyroidism than single scanning. Arch Dis Child 2006;91:972–6.Google Scholar
Ordookhani A, Mirmiran P, Moharamzadeh M, Hedayati M, Azizi F. A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. J Pediatr Endocrinol Metab 2004;17:1201–9.Google Scholar
Cangul H, Aycan Z, Olivera-Nappa A, Saglam H, Schoenmakers NA, et al. Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community. Clin Endocrinol 2013;79:275–81.Web of ScienceGoogle Scholar
Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, et al. TSHR mutations as a cause of congenital hypothyroidism in Japan: a population based genetic aetiology study. J Clin Endocrinol Metab 2009;94;:1317–23.Google Scholar
Nicoletti A, Bal M, De Marco G, Baldazzi L, Agretti P, et al. Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 2009;94:4187–94.Google Scholar
Chang WC, Liao CY, Chen WC, Fan YC, Chiu SJ, et al. R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children. Clin Chim Acta 2012;413:1004–7.Google Scholar
Jordan N, Williams N, Gregory JW, Evans C, Owen M, et al. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. J Clin Endocrinol Metab 2003;88:1002–5.Google Scholar
Léger J, Marinovic D, Garel C, Bonaiti-Pellie C, Polak M, et al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism. J Clin Endocrinol Metab 2002;87:575–80.Google Scholar
About the article
Published Online: 2016-04-09
Published in Print: 2016-07-01
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.