Periodic Paralysis as a New Phenotype of Resistance to Thyroid Hormone Syndrome in a Chinese Male Adult
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CONTEXT: A majority of patients with resistance to thyroid hormone (RTH) are asymptomatic, whereas some patients show signs of hyperthyroidism, or hypothyroidism, or both. Thyrotoxic periodic paralysis is the most common form of acquired periodic paralysis. However, it has not been reported in a patient with RTH up to now. OBJECTIVE: We evaluated a 36-year-old male patient from China with elevated serum free T4 and free T3 and inappropriately high TSH who presented with periodic paralysis. STUDY DESIGN: Clinical, biochemical, and radiological assessments, as well as DNA sequencing, were performed. RESULTS: The patient's laboratory tests revealed the following: TSH, 6.14 mIU/L (0.27-4.2 mIU/L); free T3, 12.85 pmol/L (2.8-7.1 pmol/L); free T4, 33.62 pmol/L (9.05-25.5 pmol/L); and serum SHBG, 19.4 nmol/L (18.3-54.1 nmol/L). No significant suppression of TSH was observed in the rapid TSH suppression test with somatostatin analogs. Compound muscle action potential after exercise of the patient was reduced by 58%. Sequencing of thyroid hormone receptor genes confirmed a C446S mutation in the THRβ gene. CONCLUSIONS: This is the first report of periodic paralysis as a new phenotype of RTH syndrome.
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KCNJ18 mutations appear to be infrequent and do not represent a sole cause of THPP across populations.
“However, these mutations appear to be infrequent and do not represent a sole cause of THPP across populations [26].”
From Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms (2025) · cites this paper as [26]
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Thyroid hormone resistance: mechanisms and therapeutic development
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Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms
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“However, these mutations appear to be infrequent and do not represent a sole cause of THPP across populations [26].”
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Resmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants
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- Authors
- Ma, S., Hu, M., Yang, H., Lian, X., & Jiang, Y.
- Affiliations
- Peking Union Medical College Hospital (CN)
- Corresponding author
- Hu, Mingming
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2016-02
- Volume
- 101
- Issue
- 2
- Pages
- 349-352
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC4880120
- OpenAlex
- W2193432879
- Cited by
- 7
- References
- 11
- Citations by year
- 2025: 3 · 2022: 2 · 2020: 1 · 2017: 1
- FWCI
- 0.29
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Peking Union Medical College
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Surgery › Thyroid and Parathyroid Surgery
- Keywords
- thyrotoxic periodic paralysis, periodic paralysis, thyroid hormone receptor beta, hyperthyroidism, muscle action potentials, genotype-phenotype correlation
- MeSH terms
- Adult, DNA, Hormone Antagonists, Humans, Male, Mutation, Paralyses, Familial Periodic, Sex Hormone-Binding Globulin, Somatostatin, Thyrotropin, Thyroxine, Triiodothyronine, Thyroid Hormone Resistance Syndrome, Thyroid Hormone Receptors beta
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