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
Persistent Müllerian duct syndrome deficiency of fetal anti-Müllerian hormone (AMH) effect due to mutations of the gene for AMH or the anti-Müllerian hormone receptor, but may also be as a result of insensitivity to AMH of the target organ. Persistent Mullerian Duct Syndrome (PMDS), also known as Persistent Oviduct Syndrome, is a congenital disorder related to male sexual development. PMDS usually affects phenotypically normal male individuals with the karyotype (46, XY) and is a form of pseudohermaphroditism. PMDS has various causes to do with AMH or receptors abnormalities. For example, AMH has failed to synthesis, failed to release or was secreted at the wrong