17-ketosteroids and Myotonic-Dystrophy

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.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adult; Calcium; Cataract; Diabetes Mellitus; Female; Glucose; Gonads; Humans; Hyperinsulinism; Hypothalamus; Male; Myotonic Dystrophy; Myxedema; Phosphorus; Pituitary Gland; Testosterone; Thyroid Gland

Myotonic dystrophy is frequently associated with testicular atrophy. Since androgens may play a role in the maintenance of muscle mass, we have studied the levels of plasma testosterone and gonadotropins and of urinary 17-ketosteroids in 22 men with myotonic dystrophy, 36 normal men, and 16 men (control group) with muscle wasting. Results were correlated with muscle mass as estimated by creatinine excretion and total body potassium. Patients with myotonic dystrophy had significantly lower testosterone and higher gonadotropin levels than normal, and these changes were progressive in longitudinal studies. Testosterone levels were also lower than normal in disease control subjects. There was no correlation between low testosterone levels and diminished muscle mass in either myotonic dystrophy or disease control patients. The low plasma concentration of testosterone in men with myotonic dystrophy and other neuromuscular diseases does not appear to be directly related to their muscle wasting. This study does not exclude the possibility that an alteration in testosterone receptor or tissue effects may contribute to a loss of muscle tissue.

Topics: 17-Ketosteroids; Adult; Chorionic Gonadotropin; Creatinine; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Male; Middle Aged; Myotonic Dystrophy; Testosterone

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adolescent; Adrenocorticotropic Hormone; Adult; Arginine; Child; Female; Glucose Tolerance Test; Growth Hormone; Humans; Hydrocortisone; Insulin; Male; Myotonic Dystrophy

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Acromegaly; Adult; Aged; Cholesterol; Chromosome Mapping; Electroencephalography; Electromyography; Female; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Male; Middle Aged; Myotonic Dystrophy; Pituitary Function Tests; Sex Factors; Skin Diseases; Thyroid Function Tests

Topics: 17-Ketosteroids; Adolescent; Androstanes; Child; Dehydroepiandrosterone; Humans; Hydroxysteroid Dehydrogenases; In Vitro Techniques; Male; Myotonic Dystrophy; Testis; Testosterone

Topics: 17-Ketosteroids; Adrenal Insufficiency; Adult; Aged; Cryptorchidism; Diagnosis, Differential; Dwarfism; Endocrine System Diseases; Erectile Dysfunction; Eunuchism; Humans; Hypogonadism; Male; Middle Aged; Muscular Dystrophies; Myotonic Dystrophy; Obesity

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex Hormones; Adult; Alanine Transaminase; Aldosterone; Aspartate Aminotransferases; Blood Protein Electrophoresis; Female; gamma-Globulins; Globulins; Gonadotropins; Humans; L-Lactate Dehydrogenase; Male; Myotonia Congenita; Myotonic Dystrophy

Topics: 17-Ketosteroids; Basal Metabolism; Body Fluids; Diencephalon; Electroencephalography; Geriatrics; Hypothyroidism; Myotonic Dystrophy; Thyroid Function Tests; Urine

Topics: 17-Ketosteroids; Adrenal Cortex Hormones; Cholecystokinin; Creatine; Creatinine; Deglutition Disorders; Gallbladder; Guanidines; Humans; Ketones; Male; Myotonic Dystrophy; Pathology; Testis; Urine

Topics: 17-Ketosteroids; Body Fluids; Humans; Myotonic Dystrophy

Topics: 17-Ketosteroids; Arginine; Blood Pressure; Body Fluids; Humans; Myotonia; Myotonic Dystrophy; Steroids; Urine