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
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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.
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