47XXY 46XY MOSAIC KLINEFELTERS-SYNDROME PRESENTING WITH MULTIPLE ENDOCRINE ABNORMALITIES/

We report here a rare case of 47 XXY/46 XY mosaic Klinefelter's syndro me associated with multiple endocrine disorders, A 35-year-old male ad mitted for the evaluation of renal dysfunction and recurrent bone frac tures was diagnosed as having Klinefelter's syndrome by endocrinologic al examinations and sex chromosome analysis, He has suffered from diab etes mellitus for more than ten years, The serum FSH and LH levels wer e high together with low free testosterone and estradiol levels, There was a discrepancy between basal serum GH and somatomedin-C levels. On admission, thyroid function revealed thyrotoxicosis with low radioact ive iodine uptake and negative thyroid autoantibodies. During hospital ization, serum FT3 and FT4 levels were gradually decreased and serum T SH levels became elevated, leading to the diagnosis of subacute thyroi ditis, Serum ACTH levels showed high basal levels with delayed, exagge rated responses to insulin-induced hypoglycemia, Rapid ACTH test ((124 )ACTH 0.25 mg) showed low cortisol responses and many of the adrenocor tical steroids in plasma and urine were low or low normal, Furthermore , bone mineral density (BMD) by DEXA showed marked osteoporosis, Possi ble mechanisms underlying these varied endocrine disorders remain to b e elucidated.