Hypergonadotropic hypogonadism and renal failure due to WT1 mutation

Puberty is frequently delayed in adolescent patientswith chronic renal failure, due to temporarily insuffi-cient hypothalamo-pituitary stimulation of the gonads.In these patients, basal levels of gonadotropins arenormal or slightly elevated due to increased plasmahalf-life of luteinizing hormone (LH) and folliclestimulating hormone (FSH) [1]. However, the responseto gonadotropin releasing hormone (GnRH), LHand FSH stimulation is inadequate, confirminghypogonadotropic hypogonadism.The exact mechanism of delayed pubertal develop-ment in chronic renal insufficiency is still unknown,but a reduced amplitude of pulsatile gonadotropinsecretion, i.e. LH and FSH, is thought to play animportant role [2]. In patients with chronic renal failuretheonsetofpubertyisdelayedonaverageby2years[2].However, various other reasons may affect pubertaldevelopment in patients with chronic renal insuffi-ciency, including gonadal disorders such as gonadaldysgenesis, Leydig cell hypoplasia, Turner syndromeand Klinefelter syndrome.