Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report

被引：0

作者：

Isik, Emregul ^{[1
]}

Beck-Peccoz, Paolo ^{[2
]}

Campi, Irene ^{[2
]}

Ozon, Alev ^{[1
]}

Alikasifoglu, Ayfer ^{[1
]}

Gonc, Nazli ^{[1
]}

Kandemir, Nurgun ^{[1
]}

机构：

[1] Hacettepe Univ, Fac Med, Dept Pediat, Div Pediat Endocrinol, TR-06100 Ankara, Turkey

[2] Univ Milan, Dept Med Sci, Fdn IRCCS Ca Granda Policlin, Milan, Italy

来源：

TURKISH JOURNAL OF PEDIATRICS | 2013年 / 55卷 / 03期

关键词：

thyroid hormone resistance; thyroid hormone receptor beta gene (THRB); thyrotropin; GENERALIZED RESISTANCE; PITUITARY RESISTANCE; REDUCED SENSITIVITY; CLINICAL PHENOTYPE; DEFECTS; DOMAIN; HEART; MICE;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation. The index patient had been misdiagnosed as hyperthyroidism and treated with antithyroid drugs since eight days of age. Thyroid hormone results showed that thyrotropin (thyroid-stimulating hormone, TSH) was never suppressed despite elevated thyroid hormone levels, and there was no symptom suggesting hyperthyroidism. A heterozygous mutation at codon 350 located in exon 9 of the THRB gene was detected in all the affected members of the family. It is important to consider thyroid hormone levels in association with TSH levels to prevent inappropriate treatment and the potential complications, such as clinical hypothyroidism or an increase in goiter size.

引用

页码：322 / 327

页数：6

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