Anti-müllerian hormone deficiency and resistance

Abstract

Anti-Müllerian hormone causes the regression of the Müllerian ducts in the male fetus. AMH is expressed at high levels by testicular Sertoli cells from early fetal life through puberty. The human AMH gene maps to chromosome 19. AMHR2 gene, encoding the AMH type 2 receptor, maps to chromosome 12. Mutations in either gene are responsible for the Persistent Müllerian Duct Syndrome (PMDS), characterized by the presence of the uterus and fallopian tubes in an otherwise normally virilized male. AMH is also a useful serum biomarker of testicular function in pediatric patients.