Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
Kanako Tanase-NakaoMegumi Iwahashi-OdanoChiho SugisawaKiyomi AbeKoji MuroyaYukiyo YamamotoYasusada KawadaYuichi MushimotoKazuhiro OhkuboSaori KinjoKazuhiro ShimuraKohei AoyamaHaruo MizunoTomoyuki HotsuboChie TakahashiTsuyoshi IsojimaYoko KinaSatoshi TakakuwaJunpei HamadaMiwa SawakiKeiichi ShigeharaSatoru SugimotoYuri EtaniHiroko Narumi-WakayamaYusuke MineTomonobu HasegawaAkira HishinumaSatoshi NarumiPublished in: The Journal of clinical endocrinology and metabolism (2024)
To our knowledge, this is the largest investigation on the clinical presentation of TG defects diagnosed in the neonatal period. Patients with missense variants showed relatively mild hypothyroidism with compensative goiter. Patients with only truncating variants showed minimal or no compensative goiter and required full hormone replacement.