title: Bone density and risk of osteoporosis in Klinefelter syndrome.
abstract: 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.
  
  
  CONCLUSIONS
  New perspectives on genetic topics are opening exciting areas of research on the pathophysiology of reduced bone mass in Klinefelter patients.
authors.affiliation: Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, University of Padova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Ferlin
authors.forename: M
authors.initials: M
authors.lastname: Schipilliti
authors.forename: C
authors.initials: C
authors.lastname: Foresta
mesh_terms: D015519:Bone Density / Q000502:physiology*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications* / Q000503:physiopathology; D008297:Male; D010024:Osteoporosis / Q000209:etiology* / Q000503:physiopathology; D012306:Risk