Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene
Annals of Pediatric Endocrinology & Metabolism
; : 229-231, 2014.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-195534
Biblioteca responsável:
WPRO
ABSTRACT
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRbeta) gene. Despite elevated serum levels of free thyroid hormones and thyroid stimulating hormone (TSH), the paucity of symptoms and signs of thyroid dysfunction suggest RTH. We report the case of a 9-year-old girl with goiter. Her thyroid function tests showed increased serum levels of free thyroxine, triiodothyronine, and TSH. The genetic analysis of THRbeta confirmed a novel mutation in exon 9; this was a heterozygous C-to-T change in the 327th codon, substituting threonine for isoleucine (T327I).
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Treonina
/
Testes de Função Tireóidea
/
Glândula Tireoide
/
Hormônios Tireóideos
/
Tiroxina
/
Tri-Iodotironina
/
Códon
/
Tireotropina
/
Éxons
/
Síndrome da Resistência aos Hormônios Tireóideos
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2014
Tipo de documento:
Artigo