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Radiology
Persistent Müllerian duct syndrome (PMDS) presenting as bilateral cryptorchidism and left-sided inguinal hernia
  1. Shrishail Adke,
  2. Chandrasekhar I Khot and
  3. Hemangini Thakkar
    1. Radiology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India
    1. Correspondence to Dr Chandrasekhar I Khot; chandrakhot{at}gmail.com

    Abstract

    PMDS (persistent Müllerian duct syndrome) is a rare disorder of sex development characterised by the presence of Müllerian duct remnants in a phenotypically male individual with a 46XY karyotype. Radiological investigations play a crucial role in diagnosing and characterising this condition. Ultrasound and MRI are the modalities of choice. They help to non-invasively localise the gonads and Müllerian duct derivatives. Broadly, PMDS has two anatomical variants: male type and female type. The case report presented here does not fit into these classically described variants and can be called a variant of the female type. There is a risk of infertility and malignant transformation of undescended testis and Müllerian duct derivatives in cases of PMDS. Hence, management is focused on preventing these risks. Surgical intervention involves orchidopexy, removal of Müllerian duct derivatives and inguinal hernia repair.

    • Radiology
    • General surgery
    • Paediatric Surgery
    • Ultrasonography
    • Endocrinology

    https://doi.org/10.1136/bcr-2024-259784

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      Footnotes

      • X @chandrakhot

      • Contributors SA and CIK were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content. HT gave final approval of the manuscript.

      • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

      • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

      • Competing interests None declared.

      • Provenance and peer review Not commissioned; externally peer reviewed.