[Anti-Mullerian hormone. Structure and role in sexual differentiation]

Abstract

Anti-müllerian hormone (AMH) which plays a key role in male sexual differentiation is a glycoprotein, produced by Sertoli cells. In male fetuses AMH is responsible for regression of Müllerian duct, the analgen of uterus, the Fallopian tubes, and 2/3 upper of the vagina, while in female fetuses for a decrease in aromatase activity in granulosa cells of the ovary. Human AMH gene consists of 5 exons: 412, 124, 108, 160 and 856 bp in length, and is localized near the tip of chromosome 19, in subbands 13.2 to 13.3. Mutations of the gene or the receptor of AMH are responsible for clinical symptoms of Persistent Müllerian Duct Syndrome (PMDS) which occurs in subjects with a karyotype 46XY and a male phenotype. Typical case is that of a male with bilateral cryptorchidism and inguinal hernias but normal male genitalia. Uterus and Fallopian tubes are often present in the inguinal canal. In this review data from literature are presented and discussed regarding the structure and function of the AMH and its role in male sexual differentiation.