Male hypogonadism: childhood diagnosis and future therapies

Abstract

Male hypogonadism results from inadequate testicular function manifested by the impairment of both testosterone secretion and spermatogenesis. Hypogonadism has several etiologies. Hypogonadotropic hypogonadism (HH) results from hypothalamic–pituitary disorders leading to a complete or partial deficiency in gonadotropin-releasing hormone (GnRH) secretion from hypothalamic neurons, or gonadotropin secretion from anterior pituitary, or defects in GnRH receptor at the pituitary. All situations result in low or normal serum gonadotropin levels and low serum testosterone levels. Congenital HH can occur isolated (idiopathic HH) or in association with olfactory dysfunction (Kallmann’s syndrome). Gonadotropin deficiency can also occur with other pituitary hormone deficiencies. Most of the congenital isolated HH are still idiopathic. However, defects in more than ten genetic loci with multiple modes of inheritance, accounting for monogenic and occasionally oligogenic presentations were found in approximately 30% of...