Genetic control of fetal sex development

Abstract

Fetal sex development in mammals involves two sequential steps. The first, sex determination, is where the bipotential gonad is directed to become one of two organs: the testis or the ovary. The second involves the subsequent sex specific differentiation of the testis or ovary and gonadal hormonal production, which dictates the development of male or female sexual characteristics. The inherent bipotential nature of the gonadal primordium means that mutations affecting sex development genes can result in sex reversal. Mutations in these genes can disrupt gonadal development, leading to disorders of sex development (DSDs), defined as congenital conditions resulting in atypical chromosomal, gon..