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Mullerian inhibiting factor (MIF), also called the anti-Mullerian hormone (AMH), plays a significant role in sexual differentiation. It is produced by the Sertoli cells in male fetuses and signals the regression of the Mullerian ducts, fallopian tubes, and uterus. Androgens, which are secreted by Leydig cells, induce differentiation of Wolffian ducts into male internal and external genitalia.
Persistent Mullerian duct syndrome is a type of male pseudohermaphroditism defined by the presence of female internal genitalia and male internal and external genitalia. This condition can also result from a mutation in the gene encoding MIF or a mutation in the MIF receptor. A mutation in the MIF gene will result in the lack of production of MIF. A mutation in the MIF receptor will result in the insensitivity of the Mullerian ducts to the hormone.[10][1] Lack of production or lack of response to MIF does not regress the Mullerian ducts and, therefore, these individuals have female internal genitalia. Individuals with persistent Mullerian duct syndrome present with a normal male phenotype; however, unilateral or bilateral cryptorchidism can be found on examination.[8]