Ann Pediatr Endocrinol Metab.  2014 Dec;19(4):229-231. 10.6065/apem.2014.19.4.229.

Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene

• Lee JH
• Kim EY

• KMID: 1769358
• DOI: http://doi.org/10.6065/apem.2014.19.4.229

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).

Keyword

Thyroid hormone resistance syndrome; Mutation; Thyroid hormone receptors beta

MeSH Terms

Child
Codon
Exons
Female
Goiter
Humans
Isoleucine
Threonine
Thyroid Function Tests
Thyroid Gland*
Thyroid Hormone Receptors beta*
Thyroid Hormone Resistance Syndrome
Thyroid Hormones
Thyrotropin
Thyroxine
Triiodothyronine
Codon
Isoleucine
Threonine
Thyroid Hormone Receptors beta
Thyroid Hormones
Thyrotropin
Thyroxine
Triiodothyronine

Figure

• 

  Fig. 1 A 99m Technetium thyroid scan shows diffuse marked enlargement with increased uptake in both the thyroid glands.

• 

  Fig. 2 Sequence analysis of the thyroid hormone receptor beta (THRβ) gene showing a heterozygous mutation in exon 9, substituting threonine for isoleucine (c.980C>T;p.Thr327Ile), in the patient and her father.

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