Persistent Müllerian duct syndrome
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Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the upper part of the vagina)[1] in what would be considered a genetically and otherwise physically normal male animal by typical human based standards.[2] In humans, PMDS typically is due to an autosomal recessive[3] congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives.[1][4] PMDS can also present in non-human animals.[5][6]
This article needs more reliable medical references for verification or relies too heavily on primary sources. (May 2018) |
Persistent Müllerian duct syndrome | |
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Other names | Persistent Müllerian derivatives |
Persistent Müllerian duct syndrome has an autosomal recessive pattern of inheritance. | |
Specialty | Medical genetics |
Typical features include undescended testes (cryptorchidism) and the presence of a small, underdeveloped uterus in an XY infant or adult. This condition is usually caused by 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.[1]