Adrenal steroid dysregulation in dystrophia myotonica

J Intern Med. 1999 Apr;245(4):345-51. doi: 10.1046/j.1365-2796.1999.00455.x.


Objective: To evaluate circulating adrenal steroid hormones, cortisol diurnal rhythm and the negative feedback function of the cortisol axis in patients with dystrophia myotonica (DyM), a disease where metabolic disturbances, peripheral insulin insensitivity and cognitive dysfunction are common features.

Design: Morning serum levels of dehydroepiandrosterone sulphate, androstenedione, 17 alpha-hydroxy progesterone and cortisol; morning serum levels of testosterone and insulin; diurnal rhythm of saliva cortisol; and an overnight dexamethasone suppression test, together with a cognitive screening test in men with DyM and in controls.

Setting: Outpatient clinic in co-operation with Umeå University Hospital.

Subjects: Fifteen men with DyM and 13 age-matched controls.

Main outcome measures: Adrenal steroid hormone levels, diurnal rhythm of saliva cortisol, dexamethasone suppression test and Mini Mental State Examination scores.

Results: Morning serum levels of dehydroepiandrosterone sulphate, androstenedione and 17 alpha-hydroxy progesterone were significantly decreased in DyM after inclusion of age and body mass index in multiple regression analyses (48, 26 and 32% decreases, respectively). An abnormal diurnal rhythm of saliva cortisol was present in all patients, mean saliva cortisol levels being significantly increased (33%) in DyM patients. Dexamethasone suppressibility did not differ between groups. DyM patients scored significantly lower on the Mini Mental State Examination (P < 0.001).

Conclusions: These results indicate an abnormal adrenal steroid hormone secretion in DyM, which may contribute to peripheral insulin sensitivity as well as cognitive impairment in these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 17-alpha-Hydroxyprogesterone / blood
  • Adult
  • Androstenedione / blood
  • Blood Glucose / metabolism
  • Case-Control Studies
  • Circadian Rhythm
  • Cognition*
  • Dehydroepiandrosterone / blood
  • Humans
  • Hydrocortisone / metabolism
  • Male
  • Middle Aged
  • Myotonic Dystrophy / blood*
  • Myotonic Dystrophy / psychology*
  • Regression Analysis
  • Saliva / metabolism


  • Blood Glucose
  • Androstenedione
  • Dehydroepiandrosterone
  • 17-alpha-Hydroxyprogesterone
  • Hydrocortisone