A Case of XX-male with Osteoporosis and Diabetes Mellitus

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  • 骨粗鬆症, 糖尿病を合併したXX-maleの1例

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A 50-year-old man attended our hospital with the chief complaint of osteoporosis. He was diagnosed with diabetes mellitus at 32 years of age and was treated with 3.75 mg of glibenclamide. Physical examination showed short statue with BMI of 25.3 kg/m2, sparse body hair, gynecomastia, and bilateral small testes. Endocrinological studies showed that basal levels of LH and FSH were elevated and the serum testosterone level was low. An impaired response of testosterone to HCG was observed. These results indicate hyper-gonadotropic hypogonadism. Cytogenetic studies showed 46,XX karyotype with unidentified region on p22 of an X chromosome. Sex determining region of the Y chromosome (SRY) was detected by PCR technique. The diagnosis of XX-male was made from the above findings. He had a fracture in the 3rd lumbar vertebrae and severe osteopenia (bone mineral density of 0.72g/cm2) by dual energy X-ray absorptiometry. Hypogonadism is a well recognized cause of osteoporosis in male, in which testosterone deficiency may cause a bone deficit in those patients. XX-male may be another hypogonadism that leads to osteoporosis in male. Forty-eight cases of XX-male were reported in Japanese literatures. The present case is the first case of XX-male with osteoporosis and the second case with diabetes mellitus.

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