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Bone density and risk of osteoporosis in Klinefelter syndrome

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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.

Keywords: Androgen receptor; Bone mass; Hypogonadism; INSL3; Klinefelter syndrome

Document Type: Research Article


Publication date: June 1, 2011

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