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Summary

objective We wanted to measure forearm mineral density and bone-related biochemical variables in patients with Klinefelter's syndrome.

design Measurements made in patients with Klinefelter's syndrome were compared to those obtained in age-matched normal male volunteers.

patients We studied 22 patients with Klinefelter's syndrome (12 of whom had received sex hormone therapy) and 22 control subjects.

measurements We measured forearm mineral density, forearm fat content, fat-corrected forearm mineral density, plasma calcium and ionized calcium, serum osteocalcin, testosterone and dehydroepiandrosterone sulphate, and urinary hydroxyproline/creatinine ratio.

results Forearm mineral density was lower in the Klinefelter's group than in the control sublets (P < 0·05) and below the control range in 5 patients. The fat content of the forearm was greater in the Klinefelter's group (P < 0·002). Serum osteocalcin and testosterone were lower, while ionized calcium and the urinary hydroxyproline/creatinine ratio were higher in the Klinefelter's group (P < 0·002). Serum dehydroeplandrosterone sulphate and testosterone were significantly related in the Klinefelter's group (r= 0·64, P < 0·001), but not in the controls (r= 0·22, NS). Forearm mineral density and fat-corrected forearm mineral density were significantly related to serum testosterone in the Klinefelter's group (r < 0·63; P < 0·01), but not in the control subjects (r < 0·03, NS).

conclusions Decreased bone density occurs in about 25% of patients with Klinefelter's syndrome and probably reflects both decreased bone formation and increased bone resorption.