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Persistent Müllerian Duct Syndrome Diagnosed Incidentally: A Case Report
Nazish Fatima1, Zareen Kiran1, Khalil Ullah Shabbir1
1Dow University of Health Sciences, Karachi, Pakistan.
JPMA. the Journal of the Pakistan Medical Association
|November 28, 2023
Summary
Persistent Müllerian Duct syndrome is a rare male developmental disorder where males have female internal organs due to anti-Müllerian hormone issues. This case highlights diagnosis and laparoscopic treatment of a 19-year-old male with this condition.
Area of Science:
- Reproductive Endocrinology
- Developmental Biology
- Urology
Background:
- Persistent Müllerian Duct syndrome (PMDS) is a rare disorder of sexual development in males.
- It results from anti-Müllerian hormone (AMH) deficiency or insensitivity, leading to the presence of female internal reproductive structures.
Observation:
- A 19-year-old male presented with right iliac fossa pain, initially suspected as appendicitis.
- Imaging revealed bilateral cryptorchidism and a rudimentary uterus, confirmed by CT and MRI.
- The rudimentary uterus was located posterior to the urinary bladder.
Findings:
- Surgical intervention included laparoscopic orchidopexy followed by orchidectomy.
- The rudimentary uterus was successfully removed laparoscopically.
- The patient was diagnosed with Persistent Müllerian Duct syndrome.
Implications:
- This case underscores the importance of thorough imaging in diagnosing rare developmental disorders.
- Surgical management aims to address anatomical abnormalities and potential complications.
- Long-term counseling for sex hormone replacement and reproductive outcomes is crucial for affected individuals.
