Low Bone Mineral Density in a Case of Mosaicism Klinefelter Syndrome

Endocrine Journal

DAISUKE INOUE¹  JUN MINAMIKAWA¹  HIROYUKI KOSHIYAMA¹  MAKOTO TADANO¹  MIKA YAMAUCHI¹  YASUTOMO FUKUNAGA¹ 

[1] Division of Endocrinology and Metabolism, Department of Internal Medicine, Hyogo Prefectural Amagasaki Hospital

关键词: Klinefelter syndrome;    Osteoporosis;    Mosaicism;    Testosterone treatment;    Diabetes mellitus;   

DOI  :  10.1507/endocrj.45.601

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(18)Male hypogonadism has been recognized as one of the major causes of secondary osteoporosis, but most cases seem to be left undiagnosed. We report a 54-year-old case of mosaicism Klinefelter syndrome lacking typical clinical features such as tall stature or low intelligence, who was found to have marked decrease in lumbar bone mineral density (BMD: 0.686g/cm2) during treatment of diabetes mellitus. In investigation for etiologies of secondary osteoporosis, he was diagnosed as having mosaicism Klinefelter syndrome (XXY/XY/XX). Although he was infertile, he lacked typical clinical features of Klinefelter syndrome. Testosterone replacement was started, which resulted in an increase in BMD up to 0.712g/cm2 two months after the initiation of therapy. The fact that BMD increased shortly after the initiation of testosterone replacement therapy in the present case supported a beneficial effect of testosterone on BMD, as recently suggested in idiopathic hypogonadotropic hypogonadism. Although the present case was diagnosed as having mosaicism Klinefelter syndrome by investigating etiologies for osteoporosis, it may be stressed that male hypogonadism, in general, should be adequately suspected in the presence of infertility and from the findings of physical examination.

【 授权许可】

Unknown