Gonadal dysgenesis If a single or combination of these genes are mutated or deleted, downstream signalling is disrupted, leading to malformation of male external genitalia. SRY acts on gene SOX9 which drives Sertoli cell formation and testis differentiation. An absence in SRY causes SOX9 to not be expressed at the appropriate time or concentration, leading to a deficiency in testosterone and Anti-Müllerian hormone production. Inadequate levels of testosterone and Anti-Müllerian hormone disrupts the development of Wolffian ducts and internal genitalia that are key to male reproductive tract development. The lack of the male associated steroid hormones drives Müllerian duct development and perusal
Male a female. The part of the Y-chromosome which is responsible for maleness is the sex-determining region of the Y-chromosome, the SRY. The SRY activates Sox9, which forms feedforward loops with FGF9 and PGD2 in the gonads, allowing the levels of these genes to stay high enough in order to cause male development; for example, Fgf9 is responsible for development of the spermatic cords and the multiplication of Sertoli cells, both of which are crucial to male sexual development. The ZW sex-determination system, where males have a ZZ (as opposed to ZW) sex chromosome may be found in birds and some