Thyroid hormone metabolism defect caused by SECISBP2 gene mutation: a case report and literatures review / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 996-1000, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-957644
ABSTRACT
We reported the first case of a boy with selenocysteine insertion sequence binding protein 2 (SECISBP2) compound heterozygous mutation in China and provide a review of literatures to improve clinicians′ understanding of the thyroid hormone metabolism defect. Clinically, for children with growth retardation and delayed motor development, thyroid hormone metabolism deficiency should be considered if the thyroid function test shows normal or slightly elevated TSH, elevated T 4 and decreased T 3.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2022
Tipo de documento:
Artigo
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