Sindrome di klinefelter: Che cosa deve sapere il pediatra?

Translated title of the contribution: Klinefelter syndrome: What should a paediatrician know?

Rosario Cavallo, Carmela Santelia, Gianluca Tornese

Research output: Contribution to journalArticlepeer-review


Klinefelter syndrome (KS), characterized by the presence of at least one extra X chromosome, is the most common chromosomal abnormality in males. Nevertheless, it is highly underdiagnosed (only 25% of expected diagnoses) or is diagnosed later in life, usually around 30 years. KS is associated with increased morbidity resulting in loss of life of about 2 years with an increase in mortality due to many different diseases. The main findings of KS are: small testes, hypergonadotropic hypogonadism, and cognitive impairment. Hypogonadism may lead to changes in body composition and the risk of developing metabolic syndrome and type 2 diabetes. KS is often accompanied by a language processing deficit for which the boys with KS often need speech therapy or even school support, while not showing in general a real cognitive disorder. Medical treatment consists in testosterone replacement therapy to counteract the systemic effects of hypogonadism and to treat or even prevent the frequent comorbidity.

Translated title of the contributionKlinefelter syndrome: What should a paediatrician know?
Original languageItalian
Pages (from-to)104-110
Number of pages7
JournalMedico e Bambino
Issue number2
Publication statusPublished - Feb 1 2015

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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