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Title: An identical neo-mutation in the thyroid hormone receptor β gene (A317T) in 2 unrelated Thai families with resistance to thyroid hormone
Authors: Thongkum Sunthornthepvarakul
Supawadee Likitmaskul
Supunnee Ngowngarmratana
Somchit Jaruratanasirikul
Kitti Angsusingha
Rajavithi Hospital
Prince of Songkla University
Mahidol University
Keywords: Medicine
Issue Date: 1-Feb-2000
Citation: Journal of the Medical Association of Thailand. Vol.83, No.2 (2000), 139-145
Abstract: 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 T4 and free T3 concentrations were high and they had normal levels of TSH. The affected girl in family 1 was treated with an antithyroid drug for 1-9/12 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 β 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 (GCT) with a threonine (ACT) at codon 317. Two proposita were heterozygous, and this mutation was not present in their parents compatible with a neomutation.
ISSN: 01252208
Appears in Collections:Scopus 1991-2000

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