Mutations in human gonadotropin genes and their physiologic significance in puberty and reproduction

Objective: Human gene mutations provide an opportunity to study the pathophysiology of the disease process as well as normal physiology. The purpose of the present report was to review known human gene mutations that affect gonadotropin secretion. Design: A retrospective analysis of studies of human gene mutations that affect hypothalamic, pituitary, and gonadal function was conducted. Result(s): Mutations have been identified for at least three genes that cause inherited hypogonadotropic hypogonadism. In addition, gene mutations for the β-subunits of FSH and LH have been characterized. Both activating and inactivating mutations have been identified for the gonadotropin receptor genes. Conclusion(s): The identification of human gene mutations has furthered our understanding of the normal processes of pubertal development and fertility.