Despite phenotypic variability, KS has been rarely associated to GH deficiency and short stature. KS is usually suspected in the pubertal period as a result of primary or secondary signs of hypogonadism, and not as a result of poor height growth.
FGFR1 gene has been independently associated both to KS and to pituitary dysfunction. This novel mutation of FGFR1 might determine the concurrence of these both clinical situations.
