Get access

Bone density and risk of osteoporosis in Klinefelter syndrome

Authors

  • A Ferlin,

    1. Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy
    Search for more papers by this author
  • M Schipilliti,

    1. Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy
    Search for more papers by this author
  • C Foresta

    1. Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy
    Search for more papers by this author

Prof. Carlo Foresta, University of Padova, Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Centre for Male Gamete Cryopreservation, Via Gabelli 63, 35121 Padova, Italy.
Tel: +39 049 821 8517 |
Fax: +39 049 821 8520 |
Email: carlo.foresta@unipd.it

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.

Conclusion:  New perspectives on genetic topics are opening exciting areas of research on the pathophysiology of reduced bone mass in Klinefelter patients.

Ancillary