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Bone density and risk of osteoporosis in Klinefelter syndrome
Author(s) -
Ferlin A,
Schipilliti M,
Foresta C
Publication year - 2011
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2010.02138.x
Subject(s) - klinefelter syndrome , medicine , osteoporosis , testosterone (patch) , endocrinology , androgen receptor , bone mass , androgen , bone density , androgen deficiency , pathophysiology , bone mineral , hormone , prostate cancer , cancer
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.