AI Article Synopsis
- PMDS is a rare form of internal male pseudohermaphroditism characterized by individuals with XY karyotypes having internal female reproductive organs due to a genetic defect involving Mullerian inhibiting substance (MIS) or its receptor.
- A 29-year-old male patient with PMDS was diagnosed after presenting with primary infertility, using imaging and karyotyping, leading to surgery that included hysterectomy and orchidopexy.
- The study emphasizes the need for surgeons to be aware of PMDS and consider it in cases of primary infertility, especially when bilateral undescended testis is present.
Article Abstract
Background: Persistent mullerian duct syndrome (PMDS) is a very rare form of internal male pseudohermaphroditism in individuals who are phenotypically males with 46 XY karyotypes harboring internal female reproductive organs which are Mullerian derivatives. It occurs as a defect in the genes coding for the Mullerian inhibiting substance (MIS) or the anti Mullerian hormone (AMH) receptor, ultimately leading to failure of regression of Mullerian ducts.
Case Presentation: A 29-year-old male with PMDS presented with complaints of primary infertility. Diagnosis was made with the help of high index of suspicion, radiological imaging, and karyotyping. Our patient underwent exploratory laparotomy with hysterectomy and bilateral orchidopexy.
Conclusion: The purpose of this study was increasing awareness regarding rare entities and surgeons should have high clinical suspicion of PMDS when patient with bilateral undescended testis comes for the evaluation of primary infertility.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607875 | PMC |
| http://dx.doi.org/10.18502/jri.v22i3.6722 | DOI Listing |
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