A case of resistance to thyroid hormone with thyroid cancer.
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.
Kim
Hee Kyung
HK
Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim
Doi
D
Yoo
Eun Hyung
EH
Lee
Ji In
JI
Jang
Hye Won
HW
Tan
Alice Hyun Kyung
AH
Hur
Kyu Yeon
KY
Kim
Jae Hyeon
JH
Kim
Kwang-Won
KW
Chung
Jae Hoon
JH
Kim
Sun Wook
SW
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
D037042:Thyroid Hormone Receptors beta; D013963:Thyroid Hormones
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