Endocrinological abnormalities in myotonic dystrophy: consecutive studies of eight tolerance tests in 26 patients.

Abstract

We studied endocrine functions of the hypothalamus, pituitary, thyroid, gonad, adrenal and pancreas in 26 patients with myotonic dystrophy. The following findings were obtained: (1) Hyporesponsivenesses of HGH to insulin, arginine and L-dopa test were observed in 25%, 45% and 54.5% of patients, respectively. To the administration of sulpiride and TRH, hypo- or hyperresponses of plasma PRL were observed in 4 or 2 patients, respectively. (2) Depressed plasma levels of testosterone were observed in 4 patients and those of estradiol were observed in 3 patients. Among these 7 patients, five were hypergonadotropic and the remaining two were hypogonadotropic. From the data of plasma cortisol and urinary 17-OHCS, the adrenal functions in patients with myotonic dystrophy were considered to be normal. The renin-angiotensin-aldosterone systems in these patients were considered to be grossly normal. (3) Basal levels of T3, T4 and free T4 were within the normal ranges, but 6 of 19 patients showed low levels of 131I-uptake and 11 of 24 patients showed reduced BMR values. (4) The basal level of plasma insulin was elevated in 5 patients. Insulin responses to oral glucose were exaggerated and delayed in 21 of 26 patients. From these results and the statistical evaluation of each laboratory and clinical data, we concluded that 1) the degrees of disturbances of endocrine functions are at random in each patient. 2) The measures of intellectual function obtained by WAIS were directly correlated with basal levels of TSH, but inversely with basal levels of somatostatin. No specific correlation was found between endocrinological disturbances and neurological severities. 3) Impairment of some endocrine functions, such as the gonadal, thyroid and somatotroph functions, was closely correlated with age and the duration of disease.