Intersex disorders: Shedding light on male sexual differentiation beyond SRY

Abstract

Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the SRY gene, which causes the indifferent gonad to develop into a testis. Hormonal products of the testis, predominantly testosterone and Mullerian inhibiting substance (MIS), then control the sexual differentiation of the developing foetus. SRY is a transcription factor; however, target genes for its action have yet to be identified, because the DNA recognition sequence for SRY is found in many genes. Therefore the study of intersex disorders is being used to identify other genes active in the pathway of sexual differentiation. Genes identified as being important in the differentiation..