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Article

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.

Endocrine journal - 23 May 2024

Shibata Nao, Numakura Chikahiko, Hamajima Takashi, Miyako Kenichi, Fujiwara Ikuma, Mori Jun, Saitoh Akihiko, Nagasaki Keisuke

Abstract excerpt

Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected by newborn screening (NBS) using dry filter paper blood TSH levels, and early diagnosis remains challenging. In this study, the clinical and genetic backgrounds of patients with isolated central CH were determined through a...

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Identifiers

PMID: 38462462
DOI: 10.1507/endocrj.EJ23-0391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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