Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders

A. E. Calogero, Vito Giagulli, L. M. Mongioì, V. Triggiani, A. F. Radicioni, E. A. Jannini, D. Pasquali, Giancarlo Balercia, Marco Bonomi, Giovanni Corona, Andrea Fabbri, Alberto Ferlin, Felice Francavilla, Vito Giagulli, Fabio Lanfranco, Mario Maggi, Rosario Pivonello, Alessandro Pizzocaro, Antonio Radicioni, Vincenzo RochiraLinda Vignozzi, Giacomo Accardo, Biagio Cangiano, Rosita A. Condorelli, Giuliana Cordeschi, Settimio D’Andrea, Antonella Di Mambro, Daniela Esposito, Carlo Foresta, Sandro Francavilla, Mariano Galdiero, Andrea Garolla, Lara Giovannini, Antonio R.M. Granata, Sandro La Vignera, Giovanna Motta, Luciano Negri, Fiore Pelliccione, Luca Persani, Ciro Salzano, Daniele Santi, Riccardo Selice, Manuela Simoni, Carla Tatone, Giacomo Tirabassi, Alberto Stefano Tresoldi, Enzo Vicari, On behalf of the Klinefelter ItaliaN Group (KING)

Research output: Contribution to journalReview articlepeer-review


Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6–3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature. Cardiovascular congenital anomalies (SMR, 7.3; 95% CI, 2.4–17.1) and the development of thrombosis or leg ulcers (SMR, 7.9; 95% CI, 2.9–17.2) are also more frequent in these subjects. Moreover, cardiovascular abnormalities may be at least partially reversed by testosterone replacement therapy (TRT). KS patients have also an increased probability of endocrine and/or metabolic disease, especially obesity, metabolic syndrome and type 2 diabetes mellitus. The effects of TRT on these abnormalities are not entirely clear.

Original languageEnglish
Pages (from-to)705-712
Number of pages8
JournalJournal of Endocrinological Investigation
Issue number7
Publication statusPublished - Jul 1 2017


  • Cardiovascular disease
  • Chromosome abnormalities
  • Hypergonadotropic hypogonadism
  • Klinefelter syndrome
  • Metabolism
  • Testosterone

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


Dive into the research topics of 'Klinefelter syndrome: cardiovascular abnormalities and metabolic disorders'. Together they form a unique fingerprint.

Cite this