In this review, we described the genes that encode an array of transcription factors, matrix proteins, hormones, enzymes and receptors that are expressed at multiple levels of the hypothalamic-pituitary-gonadal axis (HPG). In addition, we reported our experience in the identification and characterization of naturally occurring mutations in patients affected by HPG disorders, including hypergonadotropic hypogonadism and hypogonadotropic hypogonadism, isolated or associated with others pituitary hormonal deficiencies, and abnormalities of pubertal and sexual development. To date, fifteen distinct genes implicated with […]