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

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

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,...

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Bibliographic Details
Main Authors: Nao Shibata, Chikahiko Numakura, Takashi Hamajima, Kenichi Miyako, Ikuma Fujiwara, Jun Mori, Akihiko Saitoh, Keisuke Nagasaki
Format: Article
Language:English
Published: The Japan Endocrine Society 2024-05-01
Series:Endocrine Journal
Subjects:
central congenital hypothyroidism
tsh deficiency
newborn screening
immunoglobulin superfamily 1 (igsf1)
transducin-beta-like protein 1 x-linked (tbl1x)
Online Access:https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0391/_html/-char/en
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https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0391/_html/-char/en

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