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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism
Tamara Kufoof1,2, Catherine Luxford3, Kishani Kannangara4
1Department of Pediatrics, Faculty of Medicine, The Hashemite University, Zarqa, Jordan.
Medical Archives (Sarajevo, Bosnia and Herzegovina)
|April 3, 2024
Summary
A rare genetic mutation in the TSH receptor (TSHR) gene causes familial non-autoimmune hyperthyroidism. This study identifies a novel TSHR variant linked to childhood T3 toxicosis, emphasizing early diagnosis for better outcomes.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Familial non-autoimmune hyperthyroidism is a rare endocrine disorder.
- Characterized by the absence of thyroid autoimmunity and TSH receptor antibody (TRAb).
Observation:
- A family with three members (two siblings and their father) presented with non-autoimmune hyperthyroidism.
- Siblings diagnosed with mild T3 toxicosis at ages 7 and 14; father diagnosed at 30.
- Affected individuals were treated with various therapies including antithyroid drugs, radioactive iodine, and surgery.
Findings:
- Genetic analysis revealed a novel heterozygous missense mutation (c.1855G>C, p.[Asp619His]) in exon 10 of the TSHR gene in all affected family members.
- This TSHR variant was identified as the cause of the familial hyperthyroidism.
Implications:
- The novel TSHR mutation is associated with T3 toxicosis, particularly in childhood.
- Early identification and treatment of this genetic variant can improve patient outcomes.
- Highlights the importance of genetic testing in familial hyperthyroidism cases.
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