ENDOCRJ : Vol. 52 (2005) , No. 5 643-645

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Endocrine Journal

Vol. 52 (2005) , No. 5 643-645

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Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism

Toshihiro TAJIMA¹⁾, Junko TSUBAKI¹⁾ and Kenji FUJIEDA²⁾

1) Department of Pediatrics, Hokkaido University School of Medicine
2) Department of Pediatrics, Asahikawa Medical College

(Received: May 20, 2005)
(Accepted: July 8, 2005)

Abstract: We encountered a Japanese patient with goitrous hypothyroidism due to iodide organification defect in the thyroid gland. Sequence analysis identified two novel mutations (E378K in exon 8 and a heterozygous 10 base deletion of the intron 15-exon 16 boundary) in the thyroid peroxidase (TPO) gene. As individuals with goitrous hypothyroidism caused by TPO gene mutation develop thyroid cancer, regular and careful follow-up for such patients must be done.

Keywords: Goitrous hypothyroidism, Thyroid peroxidase gene, TPO, iodide organification defect

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	To cite this article:
	Toshihiro TAJIMA, Junko TSUBAKI and Kenji FUJIEDA. “Two Novel Mutations in the Thyroid Peroxidase Gene with Goitrous Hypothyroidism” Endocr J Vol. 52: 643-645, (2005) .

	doi:10.1507/endocrj.52.643
	JOI JST.JSTAGE/endocrj/52.643

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