Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

doi:10.1210/clinem/dgae098

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Article

Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

The Journal of clinical endocrinology and metabolism - 13 Aug 2024

Tanase-Nakao Kanako, Iwahashi-Odano Megumi, Sugisawa Chiho, Abe Kiyomi, Muroya Koji, Yamamoto Yukiyo, Kawada Yasusada, Mushimoto Yuichi, Ohkubo Kazuhiro, Kinjo Saori, Shimura Kazuhiro, Aoyama Kohei, Mizuno Haruo, Hotsubo Tomoyuki, Takahashi Chie, Isojima Tsuyoshi, Kina Yoko, Takakuwa Satoshi, Hamada Junpei, Sawaki Miwa, Shigehara Keiichi, Sugimoto Satoru, Etani Yuri, Narumi-Wakayama Hiroko, Mine Yusuke, Hasegawa Tomonobu, Hishinuma Akira, Narumi Satoshi

Abstract excerpt

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. METHODS: We screened 1061 patients with CH for 13...

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PMID: 38373250
DOI: 10.1210/clinem/dgae098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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