Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome

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

AACE Clinical Case Reports (Jan 2017)

Radioiodine Treatment For Hyperthyroidism In A Patient With Pendred Syndrome

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

Affiliations

Tetsuya Mizokami, MD: From the 1Tajiri Thyroid Clinic, Kumamoto, Japan; Address correspondence to Dr. Tetsuya Mizokami, Tajiri Thyroid Clinic, 2-6-3 Suizenji, Kumamoto 862-0950, Japan.
Akira Hishinuma, MD, PhD: Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan.
Takahiko Kogai, MD, PhD: Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan.
Katsuhiko Hamada, MD, PhD: From the 1Tajiri Thyroid Clinic, Kumamoto, Japan
Tetsushi Maruta, MD: From the 1Tajiri Thyroid Clinic, Kumamoto, Japan
Kiichiro Higashi, MD, PhD: From the 1Tajiri Thyroid Clinic, Kumamoto, Japan
Junichi Tajiri, MD, PhD: From the 1Tajiri Thyroid Clinic, Kumamoto, Japan

Journal volume & issue: Vol. 3, no. 2
pp. e176 – e179

Abstract

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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.

Published in AACE Clinical Case Reports

ISSN: 2376-0605 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.journals.elsevier.com/aace-clinical-case-reports

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