Zespół Klinefeltera: wczesne rozpoznanie szansÄ na skuteczność terapii zaburzeń rozwojowych

Diagnosis and therapy of Klinefelter syndrome (KS) in children and youth are presented. Statement of the diagnosis before puberty is difficult, because characteristic somatic symptoms are not present and in youth phenotypic variability is frequent. Suspicion of KS diagnosis should be based on family history (for example high parental age), psychomotor developmental delay in infants and psychosocial disorders, especially emotional immaturity. The most frequent symptoms of are: hypogonadism, tall stature, eunuchoid body proportions, obesity, gynecomastia, mental retardation, emotional immaturity, psychosocial and behavioral disturbances. Besides testosterone replacement therapy, numerous emotional and psychosocial problems of KS children and youth must be noted and solved.