克氏综合征患者的骨密度与骨质疏松症风险。
Bone density and risk of osteoporosis in Klinefelter syndrome.
机构信息
Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, University of Padova, Italy.
出版信息
Acta Paediatr. 2011 Jun;100(6):878-84. doi: 10.1111/j.1651-2227.2010.02138.x. Epub 2011 Feb 10.
UNLABELLED
Different mechanisms in Klinefelter syndrome contribute to reduced bone mass and osteoporosis, which have a precocious onset and are detected in up to 40% of patients, irrespectively of testosterone levels. Androgen receptor, X chromosome inactivation and INSL3 levels are hypothesized to cooperate with and modulate the effect of testosterone on the bone.
CONCLUSION
New perspectives on genetic topics are opening exciting areas of research on the pathophysiology of reduced bone mass in Klinefelter patients.
非适应证
不同机制导致克氏综合征患者出现骨量减少和骨质疏松，其发病早，高达 40%的患者可检测到，与睾酮水平无关。雄激素受体、X 染色体失活和 INSL3 水平被认为与睾酮对骨骼的作用相互配合并对其进行调节。
结论
遗传课题的新视角为克氏综合征患者骨量减少的病理生理学研究开辟了令人兴奋的研究领域。
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