Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism

Abstract Context Congenital hypothyroidism (CH) is due to dyshormonogenesis in 10% to 15% of subjects worldwide but accounts for 60% of CH cases in the Sudan. Objective To investigate the molecular basis of CH in Sudanese families. Design Clinical phenotype reporting and serum thyroid hormone measur...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2020-05, Vol.105 (5), p.1564-1572
Hauptverfasser:	Bruellman, Ryan J, Watanabe, Yui, Ebrhim, Reham S, Creech, Matthew K, Abdullah, Mohamed A, Dumitrescu, Alexandra M, Refetoff, Samuel, Weiss, Roy E
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Autoantigens - genetics Child Child, Preschool Clinical Congenital diseases Congenital Hypothyroidism - epidemiology Congenital Hypothyroidism - genetics Diagnosis Dual Oxidases - genetics Family Female Gene Frequency Gene mutations Genetic analysis Genetic aspects Genetic Association Studies Genetic disorders Genetic Predisposition to Disease Genotype & phenotype Genotypes Health aspects Humans Hypothyroidism Infant Infant, Newborn Iodide peroxidase Iodide Peroxidase - genetics Iodine Iron-Binding Proteins - genetics Male Mutation Mutation rates Pediatric research Pedigree Phenotypes Polymorphism, Single Nucleotide Prevalence Protein structure Structure-function relationships Sudan - epidemiology Thyroglobulin Thyroglobulin - genetics Thyroid Thyroid gland Thyroid hormones
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