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Persistent Mullerian Duct Syndrome: A Rare Case of an Adult Infertile Male with Bilateral Cryptorchidism
Prakash Sankapal1, Venkat Arjun Gite1, Mayank Agrawal1
1- Department of Urology, Grant Government Medical College and Sir JJ Hospital, Mumbai, India.
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.
Insights
Persistent Mullerian Duct Syndrome (PMDS) is a rare condition where males have internal female reproductive organs. Early suspicion is key for diagnosing PMDS in infertile males with undescended testes.
Area of Science:
- Endocrinology
- Reproductive Medicine
- Genetics
Background:
- Persistent Mullerian Duct Syndrome (PMDS) is a rare intersex condition in 46 XY males.
- Characterized by the presence of Mullerian duct derivatives (uterus, fallopian tubes) in phenotypically male individuals.
- Caused by defects in Mullerian Inhibiting Substance (MIS) or its receptor, preventing Mullerian duct regression.
Observation:
- A 29-year-old male presented with primary infertility.
- Clinical suspicion, radiological imaging, and karyotyping confirmed the diagnosis of PMDS.
- The patient underwent surgical intervention including hysterectomy and bilateral orchidopexy.
Findings:
- PMDS can present as primary infertility in adult males.
- Diagnosis requires a high index of suspicion, especially in cases of bilateral undescended testes.
- Surgical management is often necessary to address the internal Mullerian structures.
Implications:
- Increased awareness of PMDS is crucial for timely diagnosis and management.
- Surgeons should consider PMDS in the differential diagnosis of infertile males with bilateral undescended testes.
- This case highlights the importance of comprehensive evaluation for rare genetic and endocrine disorders.
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