Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms
| Autor: | Takahiro Fukaishi, Yoshihito Hara, Yoshihiro Sekiguchi |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
medicine.medical_specialty medicine.medical_treatment Graves' disease Hyperpituitarism Thyroid Gland SITSH Thyrotropin Case Report 030209 endocrinology & metabolism Diagnosis Differential 03 medical and health sciences chemistry.chemical_compound Exon 0302 clinical medicine Antithyroid Agents Internal medicine Internal Medicine medicine Humans Codon Serum Albumin Ultrasonography Methimazole Transition (genetics) business.industry Antithyroid agent Thyroid Hyperthyroxinemia Familial Dysalbuminemic General Medicine medicine.disease Graves Disease thiamazole medicine.anatomical_structure Endocrinology chemistry Familial dysalbuminemic hyperthyroxinemia 030220 oncology & carcinogenesis Mutation familial dysalbuminemic hyperthyroxinemia (FDH) Female Differential diagnosis business Cytosine |
| Zdroj: | Internal Medicine |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.8619-16 |
| Popis: | We herein report the case of a Japanese woman with familial dysalbuminemic hyperthyroxinemia (FDH) who was initially diagnosed with Graves' disease. Direct genomic sequencing revealed a guanine to cytosine transition in the second nucleotide of codon 218 in exon 7 of the albumin gene, which then caused a proline to arginine substitution. She was finally diagnosed with FDH, which did not require treatment. FDH is - superficially - an uncommon cause of syndrome of inappropriate secretion of thyrotropin (SITSH) in Japan. A misdiagnosis of pseudo-hyperthyroidism will lead to inappropriate treatment. Thus, physicians should strongly note the possibility of FDH as a differential diagnosis of SITSH. |
| Databáze: | OpenAIRE |
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