Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Persistent Mullerian Duct Syndrome: A Rare Case of an Adult Infertile Male with Bilateral Cryptorchidism

Authors
Prakash Sankapal
Venkat Gite
Agrawal Mayank
Mahesh Sane
Atul Singal
Department of Urology, Grant Government Medical College and Sir JJ Hospital, Mumbai, India
10.18502/jri.v22i3.6722
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 harbouring 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.
Keywords
Anti Mullerian hormone (AMH)
Cryptorchidism
Hysterectomy
karyotyping
Mullerian inhibiting substance (MIS)
Orchidopexy
Persistent mullerian duct syndrome (PMDS)
Primary infertility
Journal of Reproduction & Infertility
Volume 22, Issue 3
Summer 2021
Pages 216-219