Febbraio 2015 - Volume XXXIV - numero 2

Medico e Bambino


Problemi speciali

Sindrome di klinefelter:
che cosa deve sapere il pediatra?

Rosario Cavallo1, Carmela Santelia2, Gianluca Tornese3

1Pediatra di famiglia, Salice Salentino (LE); 2Università di Trieste
3SS di Endocrinologia, Auxologia e Diabetologia Pediatrica, UCO Clinica Pediatrica, IRCCS Materno-Infantile “Burlo Garofolo”, Trieste - Dipartimento di Scienze della Riproduzione e dello Sviluppo, Università di Trieste

Indirizzo per corrispondenza: gianluca.tornese@burlo.trieste.it

KLINEFELTER SYNDROME: WHAT SHOULD A PAEDIATRICIAN KNOW?

Key words: Klinefelter syndrome, Hypogonadism, Hypergonadotropic hypogonadism, Aneuploidia, Sterility, Follow up, Treatment

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.

Vuoi citare questo contributo?

R. Cavallo, C. Santelia, G. Tornese Sindrome di klinefelter:
che cosa deve sapere il pediatra?. Medico e Bambino 2015;34(2):104-110 https://www.medicoebambino.com/?id=1502_104.pdf


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