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Original ArticleOpen Access
An Identical Neo-mutation in the Thyroid Hormone Receptor 8 Gene (A317T) in 2 Unrelated Thai Families with Resistance to Thyroid Hormone
Sunthornthepvarakul T 
,
Jamratanasirikul S ,
Likitmaskul S ,
Angsusingha K ,
Ngowngarmratana S
,
Jamratanasirikul S ,
Likitmaskul S ,
Angsusingha K ,
Ngowngarmratana S We reported two unrelated Thai girls with resistance to thyroid hormone. The affected
patients presented with goiter and no other stigmata of hyperthyroidism. Their serum T4. T3. free
T
4
and free T 3 concentrations were high and they had normal levels of TSH. The affected girl
in family 1 was treated with an antithyroid drug for 1-9112 years. The affected girl in family 2
was only observed her thyroid function tests. TRH test showed normal TSH response in both
girls. Analysis of the thyroid hormone receptor
B
gene of both affected girls revealed the same
missense mutation, changing the guanine in nucleotide 1234 to an adenine which results in the
replacement of the normal alanine (OCT) with a threonine (ACT) at codon 317. Two proposita were
heterozygous, and this mutation was not present in their parents compatible with a neo-
mutation.
Key word : Resistance to Thyroid Hormone, Two Unrelated Thai Families
patients presented with goiter and no other stigmata of hyperthyroidism. Their serum T4. T3. free
T
4
and free T 3 concentrations were high and they had normal levels of TSH. The affected girl
in family 1 was treated with an antithyroid drug for 1-9112 years. The affected girl in family 2
was only observed her thyroid function tests. TRH test showed normal TSH response in both
girls. Analysis of the thyroid hormone receptor
B
gene of both affected girls revealed the same
missense mutation, changing the guanine in nucleotide 1234 to an adenine which results in the
replacement of the normal alanine (OCT) with a threonine (ACT) at codon 317. Two proposita were
heterozygous, and this mutation was not present in their parents compatible with a neo-
mutation.
Key word : Resistance to Thyroid Hormone, Two Unrelated Thai Families
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