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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Published on: July 29, 2016

Endocrine function in 97 patients with myotonic dystrophy type 1.

M C Ørngreen1, P Arlien-Søborg, M Duno

  • 1Neuromuscular Research Unit 3342, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark. rh10679@rh.dk

Journal of Neurology
|February 22, 2012
PubMed
Summary
This summary is machine-generated.

Myotonic dystrophy type 1 (DM1) patients show increased endocrine dysfunction, especially with calcium metabolism. CTG repeat size correlates with parathyroid hormone, LH, and testosterone levels in males.

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Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Myotonic dystrophy type 1 (DM1) is a multisystem disorder.
  • Endocrine dysfunction is a known complication of DM1.
  • Previous studies have not comprehensively assessed endocrine function in relation to CTG repeat size.

Purpose of the Study:

  • To investigate endocrine function in DM1 patients.
  • To determine the association between CTG repeat expansion size and endocrine abnormalities.
  • To assess the clinical significance of endocrine dysfunction in DM1.

Main Methods:

  • Blood samples from 97 DM1 patients were analyzed for hormone and metabolite concentrations.
  • Pearson correlation was used to assess the relationship between CTG repeat size and endocrine parameters.
  • Comparison with background population data for prevalence of endocrine disorders.

Main Results:

  • 18% of DM1 patients had hyperparathyroidism, significantly higher than the background population.
  • Abnormalities in calcium metabolism (hypercalcemia, hyperparathyroidism) were common.
  • Male DM1 patients exhibited high rates of absolute or relative androgen insufficiency.
  • CTG repeat size correlated with parathyroid hormone (PTH), phosphate, and luteinizing hormone (LH) levels.
  • A trend for correlation was observed between CTG repeat size and plasma testosterone in males.

Conclusions:

  • DM1 patients have an elevated risk of endocrine dysfunction, particularly affecting calcium metabolism.
  • Endocrine abnormalities may not always be clinically significant.
  • CTG repeat expansion size is associated with specific endocrine and metabolic alterations in DM1.