title: A case of resistance to thyroid hormone with thyroid cancer.
abstract: Resistance to thyroid hormone (RTH) is an autosomal dominant hereditary disorder that is difficult to diagnose because of its rarity and variable clinical features. The magnitude of RTH is caused by mutations in the thyroid hormone receptor beta (TR beta) gene. We recently treated a 38-yr-old woman with RTH who had incidental papillary thyroid carcinoma. She presented with goiter and displayed elevated thyroid hormone levels with an unsuppressed TSH. She was determined to harbor a missense mutation of M310T in exon 9 of the TR beta gene, and diagnosed with generalized RTH. This mutation has not yet been reported in Korea. RTH is very rare and easily overlooked, but should be considered in patients who present with goiter and elevated thyroid hormone levels with an unsuppressed TSH. The association between thyroid cancer and RTH needs further study.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Kim
authors.forename: Doi
authors.initials: D
authors.lastname: Kim
authors.forename: Eun Hyung
authors.initials: EH
authors.lastname: Yoo
authors.forename: Ji In
authors.initials: JI
authors.lastname: Lee
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Jang
authors.forename: Alice Hyun Kyung
authors.initials: AH
authors.lastname: Tan
authors.forename: Kyu Yeon
authors.initials: KY
authors.lastname: Hur
authors.forename: Jae Hyeon
authors.initials: JH
authors.lastname: Kim
authors.forename: Kwang-Won
authors.initials: KW
authors.lastname: Kim
authors.forename: Jae Hoon
authors.initials: JH
authors.lastname: Chung
authors.forename: Sun Wook
authors.initials: SW
authors.lastname: Kim
mesh_terms: D000328:Adult; D002277:Carcinoma; D002291:Carcinoma, Papillary; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D011877:Radionuclide Imaging; D000077273:Thyroid Cancer, Papillary; D013961:Thyroid Gland / Q000000981:diagnostic imaging; D037042:Thyroid Hormone Receptors beta / Q000235:genetics; D018382:Thyroid Hormone Resistance Syndrome / Q000150:complications / Q000175:diagnosis*; D013963:Thyroid Hormones / Q000097:blood; D013964:Thyroid Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography
chemical_list: D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones
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