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Article

Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants.

Nagoya journal of medical science - 1 May 2023

Watanabe Daisuke, Yagasaki Hideaki, Mitsui Yumiko, Inukai Takeshi

Abstract excerpt

Congenital hypothyroidism (CH) is a common heterogeneous endocrine disorder. The thyroid-stimulating hormone receptor gene (TSHR) is one of the major candidate genes associated with CH. Studies have investigated the possible correlations between the specific clinical features and the presence of TSHR variants. However, only a few reports have focused on the long-term follow-up of patients with CH. Here we present...

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Identifiers

PMID: 37346832
DOI: 10.18999/nagjms.85.2.369
PMCID: PMC10281846

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