[Endocrine aspects of Steinert's disease].
The authors report a case of Steinert's disease in a woman and discuss the endocrine profile of this disease after giving an account of the criteria of diagnosis. Disorders of gonad function are mild in women, primary testicular atrophy is very frequent in man with reduction in 17-ketosteroids and testosterone. Thyroid function was normal but, in a few cases, a low fixation curve was found (our case) corrected by TSH stimulation. The frequency of cataract emphasizes the interest of this sign for detection. Diabetes, associated with hyperinsulinism, seemed more frequent than in a population without Steinert's disease. The pathogenesis of these endocrine disorders appears secondary and is ill explained if one considers it as a single disease. Better knowledge, no doubt linked to progress in biochemistry of normal and myopathic muscle, will help to explain the pathogenesis.
D015065:17-Hydroxycorticosteroids / Q000378:metabolism; D015068:17-Ketosteroids / Q000378:metabolism; D000311:Adrenal Glands / Q000503:physiopathology; D000328:Adult; D002118:Calcium / Q000378:metabolism; D002386:Cataract / Q000209:etiology; D003920:Diabetes Mellitus / Q000209:etiology; D005260:Female; D005947:Glucose / Q000378:metabolism; D006066:Gonads / Q000503:physiopathology; D006801:Humans; D006946:Hyperinsulinism / Q000209:etiology; D007031:Hypothalamus / Q000503:physiopathology; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D009230:Myxedema / Q000209:etiology; D010758:Phosphorus / Q000378:metabolism; D010902:Pituitary Gland / Q000503:physiopathology; D013739:Testosterone / Q000378:metabolism; D013961:Thyroid Gland / Q000503:physiopathology
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids; D010758:Phosphorus; D013739:Testosterone; D005947:Glucose; D002118:Calcium
Aspects endocriniens de la maladie de Steinert