Adrenal steroid dysregulation dystrophia myotonica - Introduction

Objective. To evaluate circulating adrenal steroid hormones, cortisol diurn al rhythm and the negative feedback function of the cortisol axis in patien ts with dystrophia myotonica (DyM), a disease where metabolic disturbances, peripheral insulin insensitivity and cognitive dysfunction are common feat ures, Design.,Morning serum levels of dehydroepiandrosterone sulphate, androstell edione, 17 alpha-hydroxy progesterone and cortisol; morning serum levels of testosterone and insulin: diurnal rhythm of saliva cortisol: and an overni ght dexamethasone suppression test, together with a cognitive screening tes t in men with DyM and in controls, Setting, Outpatient clinic in ca-operation with Umea University Hospital, Subjects, Fifteen men with DyM and 13 age-matched controls. Main outcome measures, Adrenal steroid hormone levels, diurnal rhythm of sa liva cortisol, dexamethasone suppression test and Mini Mental State Examina tion scores. Results Morning serum levels of dehydroepiandrosterone sulphate, androstene dione 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 sa liva cortisol was present in all patients, mean saliva cortisol levels bein g significantly increased (33%) in DyM patients, Dexamethasone suppressibil ity 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 sec retion in DyM, which may contribute to peripheral insulin sensitivity as we ll as cognitive impairment in these patients.