Persistent Müllerian duct syndrome: A case report and review
نویسندگان
چکیده
Persistent Mullerian duct syndrome is a rare form of internal male pseudohermaphroditism, in which Mullerian duct derivatives (uterus and fallopian tubes) are present in a genotypic (46XY) and phenotypic male. Over 150 cases have been reported, mainly from outside the African setting. This article presents an unexpected case encountered in an African setting. Handicaps in the management were unavailability of necessary diagnostic tools as well as lack of finance to assess those available. Although a diagnosis was eventually arrived at and the parents thoroughly counseled, the patient has not represented for definitive surgery.
منابع مشابه
Radiological Findings in Persistent Müllerian Duct Syndrome: Case Report and Review of Literature.
This case involved a 36-year-old adult male who presented with an unusual inguinal hernia in which the uterus and fallopian tubes were identified as contents of the inguinal hernia sac. These findings reflected a rare autosomal recessive developmental syndrome known as PMDS (persistent Müllerian duct syndrome). The diagnosis was established and confirmed via radiological-mainly MRI-investigation.
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متن کاملگزارش یک مورد نادر بیماری مادرزادی: Persistent Mullerian Duct Syndrome (PMDS) در یک آقای 71 ساله
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BACKGROUND AND OBJECTIVE Persistent Müllerian duct syndrome (PMDS) is a relatively rare form of 46,XY disorder of sex development caused by the failure of formation, release or action of anti-Müllerian hormone (AMH) in intrauterine life. In this report we describe a case diagnosed with PMDS with a novel homozygous mutation in the AMH gene. CASE REPORT A 4-month-old male presented with bilater...
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