The predisposition to thyrotoxic periodic paralysis (TPP) is due to a genetic variant in the inward-rectifying potassium channel, KCNJ2.

Clin Endocrinol (Oxf)

Department of Chemical Pathology, The Chinese University of Hong Kong, N.T., Hong Kong SAR; Functional Genomics and Biostatistical Computing Laboratory, Shenzhen Research Institute of the Chinese University of Hong Kong.

Published: May 2014

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http://dx.doi.org/10.1111/cen.12277DOI Listing

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Article Synopsis
  • Thyrotoxic periodic paralysis (TPP) is a rare disease causing muscle paralysis and low potassium levels, often rapidly reversible with potassium treatment.
  • A 19-year-old man presented with paralysis and symptoms related to hyperthyroidism, leading to a diagnosis of TPP with critical lab results indicating severe potassium deficiency and abnormal thyroid hormone levels.
  • He was treated successfully with potassium and medication for Graves' disease, eventually being discharged with normal potassium levels and ongoing outpatient care.
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We present a case of a 29-year-old male who presented with thyrotoxic periodic paralysis (TPP) precipitated by acute alcohol intoxication. TPP is an endocrine emergency that presents with an episode of acute flaccid paralysis with hypokalemia in the setting of thyrotoxicosis. Individuals who present with TPP are thought to have an underlying genetic predisposition.

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[Orbital myositis, a cause of pediatric painful ophthalmoplegia].

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Departamento de Pediatría, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Introduction: Orbital myositis (OM) is a serious inflammation of extraocular muscles with unknown etiology. Pe diatric presentation is rare and often affects more than one individual in a family, suggesting a genetic predisposition.

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Thyrotoxic periodic paralysis is a clinical condition characterized by muscle weakness in patients with underlying hyperthyroidism. It is usually more commonly seen in patients of Asian origin and has a predisposition for the male population (unlike other thyroid disorders which commonly affect the female population). Findings are more overt in patients who have subclinical hyperthyroidism and there is a risk of them remaining untreated.

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Article Synopsis
  • The study investigates thyrotoxic periodic paralysis (TPP), a serious complication of hyperthyroidism, by analyzing genetic data from 319 TPP patients and 3,516 healthy individuals to identify potential genetic risk factors.
  • Through the analysis of over 7 million genetic variants, researchers found 260 significant variants linked to TPP, including two novel risk loci near the TRIM2 and AC140912.1 genes, which were associated with changes in gene expression.
  • The findings suggest that common genetic variations may play a role in TPP, potentially leading to milder symptoms compared to rare mutations previously associated with more severe muscle paralysis disorders.
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