It is pertinent in this respect to refer that several patients with classical galactosaemia and ovarian dysfunction responded to exogenous gonadotrophin administration, either by ovulating or by documented estrogen production [51], and pregnancy has been reported in galactosaemia patient after down-regulation of endogenous gonadotrophins followed by stimulation with recombinant FSH [52]. This evidence concerns the gene BRD2 and ovarian dysfunction.