Problemi speciali
Sindrome di klinefelter:
che cosa deve sapere il pediatra?
KLINEFELTER SYNDROME: WHAT SHOULD A PAEDIATRICIAN KNOW?
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
Febbraio 2015 - pagg. 104 -110
Abstract
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.
Classificazione MeSH
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Corrispondenza: gianluca.tornese@burlo.trieste.it