Developmental Genetics of the Female Reproductive Tract

Abstract Development of the female reproductive tract is a complex and dynamic process that involves a series of events, all of which are critical for proper tissue and organ differentiation, sex determination, and ultimately, continuation of the species. Any deviation from this complex orchestration of signaling pathways comes with inevitable risk for errors and abnormalities. Shortly after the fetal to embryonic transition at about 7 weeks in humans, developing urogenital ridges contain bipotential gonads that later differentiate into ovaries and testes in females and males, respectively; Mullerian (paramesonephric) ducts that differentiate into the uterus, fallopian tubes, and vagina in females; and the Wolffian (mesonephric) ducts that differentiate into the male reproductive tract. This chapter will aim to elaborate the mechanisms of the signaling or transcriptional regulation pathways when known or surmised and how errors in these pathways contribute to congenital anomalies of the female reproductive tract.