Anti-mullerian hormone receptor type 2 Anti-mullerian hormone receptor type 2 Anti-Mullerian hormone receptor type 2 is a protein that in humans is encoded by the AMHR2 gene. This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced
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