Article
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
Thyroid : official journal of the American Thyroid Association - 1 Feb 2023
Shareef Reham, Furman Aryel, Watanabe Yui, Bruellman Ryan, Abdullah Mohammed A, Dumitresu Alexandra M, Refetoff Samuel, Bertolini Andrea, Borsò Marco, Saba Alessandro, Zucchi Riccardo, Weiss Roy E
Abstract excerpt
Background: Congenital hypothyroidism due to defects in iodotyrosine deiodinase has variable phenotypes and can present as hypothyroid or with normal thyroid testing. Methods: Whole exome sequencing was performed in individuals from two families originating from different regions of Sudan. Mass spectrometry of urine and serum iodotyrosines was performed on subjects from both families. Results: A novel...
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