Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism (MPH) which characterized by the presence of uterus, fallopian tubes and upper part of vagina in an otherwise normally differentiated 46, XY male. The syndrome is caused by either an insufficient amount of antimüllerian hormone AMH or by insensitivity of the target organ to this factor, It is usually discovered in patient who assessed for infertility, cryptorchidism or during intra-abdominal surgery. Herein We report a rare presentation case of PMDS with intra-abdominal mass which came to be seminoma.
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| http://dx.doi.org/10.1016/j.eucr.2022.102031 | DOI Listing |
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Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.
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: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
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Introduction And Importance: Persistent Mullerian duct syndrome is an exceptional genetic condition that occurs secondary to mutations in AMH and AMHR-II. The individuals with this condition exhibit well-developed secondary sexual characteristics despite having a uterus and fallopian tubes. The case mentioned here was worth reporting due to the scarcity of prevalence of PMDS.
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