According to the results of the hCG tests, it was hypothesized that the patient with the novel variant of FGFR1 (c.2197_2199dup, p.Met733dup) could have an aberrant gonadal steroidogenesis function, which could possess the same variant of FGFR1 as a germline variant, in addition to the secondary dysfunction resulting from hypogonadotropic hypogonadism typically shown in KS. This evidence concerns the gene FGFR1 and hypogonadotropic hypogonadism.