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Updated: May 30, 2025

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由于TSHB基因突变引起的中央先天性甲状腺功能低下症:25年随访

Adlyne Reena Asirvatham1, Vaishnavi Reddy Deva Reddy2, Sujatha Jagadeesh3

  • 1Endocrinology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamilnadu, India.

BMJ case reports
|January 28, 2025
PubMed
概括

由于TSHB基因突变而导致的孤立中央先天性甲状腺功能低下症 (iCCH) 的早期诊断至关重要. 新生儿及时接受levothyroxine治疗可以预防神经认知障碍,即使是严重的突变.

关键词:
遗传性甲状腺功能低下症 遗传性甲状腺功能低下症下垂体疾病 下垂体疾病甲状腺疾病是一种甲状腺疾病.

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