Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome

ABSTRACT: Objective: To report a case of Pendred syndrome accompanied by hyperthyroidism that was treated with radioiodine. Pendred syndrome is an autosomal recessive disorder characterized by bilateral sensorineural hearing impairment, goiter, and impaired iodide organification. The majority of pat...

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Main Authors:	Tetsuya Mizokami, MD, Akira Hishinuma, MD, PhD, Takahiko Kogai, MD, PhD, Katsuhiko Hamada, MD, PhD, Tetsushi Maruta, MD, Kiichiro Higashi, MD, PhD, Junichi Tajiri, MD, PhD
Format:	Article
Language:	English
Published:	Elsevier 2017-01-01
Series:	AACE Clinical Case Reports
Online Access:	http://www.sciencedirect.com/science/article/pii/S2376060520302121

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spelling	doaj-26751953e3484acaafa815adeda2ad0d2021-04-30T07:23:59ZengElsevierAACE Clinical Case Reports2376-06052017-01-0132e176e179Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred SyndromeTetsuya Mizokami, MD0Akira Hishinuma, MD, PhD1Takahiko Kogai, MD, PhD2Katsuhiko Hamada, MD, PhD3Tetsushi Maruta, MD4Kiichiro Higashi, MD, PhD5Junichi Tajiri, MD, PhD6From the 1Tajiri Thyroid Clinic, Kumamoto, Japan; Address correspondence to Dr. Tetsuya Mizokami, Tajiri Thyroid Clinic, 2-6-3 Suizenji, Kumamoto 862-0950, Japan.Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan.Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan.From the 1Tajiri Thyroid Clinic, Kumamoto, JapanFrom the 1Tajiri Thyroid Clinic, Kumamoto, JapanFrom the 1Tajiri Thyroid Clinic, Kumamoto, JapanFrom the 1Tajiri Thyroid Clinic, Kumamoto, JapanABSTRACT: Objective: To report a case of Pendred syndrome accompanied by hyperthyroidism that was treated with radioiodine. Pendred syndrome is an autosomal recessive disorder characterized by bilateral sensorineural hearing impairment, goiter, and impaired iodide organification. The majority of patients with Pendred syndrome are euthyroid or hypothyroid, and hyperthyroidism is rare. Thus far, there are no reported cases of Pendred syndrome with 131I-treated hyperthyroidism.Methods: A 39-year-old woman with congenital hearing impairment visited our clinic because of easy fatigability and body weight loss.Results: She had a diffuse goiter (estimated thyroid weight, 65 g) and subclinical thyrotoxicosis. 99mTechnetium pertechnetate scintigraphy revealed diffuse thyroidal uptake, but thyroid autoantibodies were absent. Since the therapeutic response to a single 131I dose was poor, the patient underwent a second 131I dose (13 mCi each) for hyperthyroidism. Seven years after the second 131I dose, she was euthyroid and her thyroid was still relatively large (37 g). She was later diagnosed with Pendred syndrome due to a homozygous SLC26A4 (pendrin) mutation.Conclusion: The therapeutic effect of radioiodine on hyperthyroidism may be low in patients with Pendred syndrome as a result of impaired iodide uptake into the follicular lumen by the mutated pendrin.http://www.sciencedirect.com/science/article/pii/S2376060520302121
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Tetsuya Mizokami, MD Akira Hishinuma, MD, PhD Takahiko Kogai, MD, PhD Katsuhiko Hamada, MD, PhD Tetsushi Maruta, MD Kiichiro Higashi, MD, PhD Junichi Tajiri, MD, PhD
spellingShingle	Tetsuya Mizokami, MD Akira Hishinuma, MD, PhD Takahiko Kogai, MD, PhD Katsuhiko Hamada, MD, PhD Tetsushi Maruta, MD Kiichiro Higashi, MD, PhD Junichi Tajiri, MD, PhD Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome AACE Clinical Case Reports
author_facet	Tetsuya Mizokami, MD Akira Hishinuma, MD, PhD Takahiko Kogai, MD, PhD Katsuhiko Hamada, MD, PhD Tetsushi Maruta, MD Kiichiro Higashi, MD, PhD Junichi Tajiri, MD, PhD
author_sort	Tetsuya Mizokami, MD
title	Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome
title_short	Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome
title_full	Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome
title_fullStr	Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome
title_full_unstemmed	Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome
title_sort	radioiodine treatment for hyperthyroidism in a patient with pendred syndrome
publisher	Elsevier
series	AACE Clinical Case Reports
issn	2376-0605
publishDate	2017-01-01
description	ABSTRACT: Objective: To report a case of Pendred syndrome accompanied by hyperthyroidism that was treated with radioiodine. Pendred syndrome is an autosomal recessive disorder characterized by bilateral sensorineural hearing impairment, goiter, and impaired iodide organification. The majority of patients with Pendred syndrome are euthyroid or hypothyroid, and hyperthyroidism is rare. Thus far, there are no reported cases of Pendred syndrome with 131I-treated hyperthyroidism.Methods: A 39-year-old woman with congenital hearing impairment visited our clinic because of easy fatigability and body weight loss.Results: She had a diffuse goiter (estimated thyroid weight, 65 g) and subclinical thyrotoxicosis. 99mTechnetium pertechnetate scintigraphy revealed diffuse thyroidal uptake, but thyroid autoantibodies were absent. Since the therapeutic response to a single 131I dose was poor, the patient underwent a second 131I dose (13 mCi each) for hyperthyroidism. Seven years after the second 131I dose, she was euthyroid and her thyroid was still relatively large (37 g). She was later diagnosed with Pendred syndrome due to a homozygous SLC26A4 (pendrin) mutation.Conclusion: The therapeutic effect of radioiodine on hyperthyroidism may be low in patients with Pendred syndrome as a result of impaired iodide uptake into the follicular lumen by the mutated pendrin.
url	http://www.sciencedirect.com/science/article/pii/S2376060520302121
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Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome

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