Kanako Tanase-Nakao, Megumi Iwahashi-Odano, Chiho Sugisawa, Kiyomi Abe, Koji Muroya, Yukiyo Yamamoto, Yasusada Kawada, Yuichi Mushimoto, Kazuhiro Ohkubo, Saori Kinjo, Kazuhiro Shimura, Kohei Aoyama, Haruo Mizuno, Tomoyuki Hotsubo, Chie Takahashi, Tsuyoshi Isojima, Yoko Kina, Satoshi Takakuwa, Junpei Hamada, Miwa Sawaki, Keiichi Shigehara, Satoru Sugimoto, Yuri Etani, Hiroko Narumi-Wakayama, Yusuke Mine, Tomonobu Hasegawa, Akira Hishinuma, Satoshi Narumi
CONTEXT: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening (NBS). OBJECTIVE: We aimed to clarify the phenotypic features of patients with TG defects diagnosed and treated since the neonatal period. SUBJECTS AND METHODS: We screened 1061 patients with CH for thirteen CH-related genes and identified thirty patients with TG defects...
February 19, 2024: Journal of Clinical Endocrinology and Metabolism