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Endocrine Abstracts (2012) 29 OC11.4

ICEECE2012 Oral Communications Thyroid Clinical 2 (6 abstracts)

Prevalence of TSH receptor mutation and clinical characteristics among 84 patients with hyperthyroidism with diffuse goiter and negative TBII

E. Nishihara 1 , S. Fukata 2 , Y. Nagayama 3 , A. Hishinuma 4 , N. Amino 1 & A. Miyauchi 1


1Kuma Hospital, Kobe, Japan; 2Tajiri Clinic, Kumamoto, Japan; 3Nagasaki University, Nagasaki, Japan; 4Dokkyo University of Medicine, Mibumachi, Japan.


Introduction: Hyperthyroidism with diffuse goiter and negative TBII includes Graves’ disease in the early stage or near remission and nonautoimmune hyperthyroidism (NAH) caused by constitutively activating germline mutations of TSH receptor. To verify the NAH in this situation, we examined TSH receptor mutation and followed-up the clinical course.

Patients and methods: From 2003 through 2011, 84 patients had hyperthyroidism with negative TBII and diffuse radioiodine uptake in the thyroid. Genomic DNA sequencing analysis of the TSH receptor gene was performed for these patients (11 men and 73 women; median, 36 years).

Results: Four families with novel heterozygous point mutations (L512Q,E575K,D617Y,L267F) consisted of 11 members were detected. Subsequent in vitro functional assays except for L267F showed their constitutive activity. There was a family history of hyperthyroidism in 90.9% of the group with TSH receptor mutation and in 32.9% of the group without mutation. There were no significant difference of sex, age and thyroid volume at first visit between the two groups. Among 11 patients of the mutated group, 5 had consistently subclinical hyperthyroidism without therapy, 3 were treated with anti-thyroid drug or inorganic iodine (ATD/KI), and 3 underwent ablative therapy (surgery or radioiodine) during 1 to 8 years of follow-up. Meanwhile, among 57 patients of non-mutated group, 14 obtained remission, 15 had consistently subclinical hyperthyroidism without therapy, 8 were treated with ATD/KI, 3 underwent ablative therapy, 5 were suspicious for toxic multi-nodular goiter, and 12 had positive TBII during more than 1 year of follow-up.

Conclusion: The genetic analysis of TSH receptor shows the frequency of NAH family is about 5% among all subjects. Approximately half of non-mutated patients are considered as Graves’ disease in the early stage or near remission.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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