Clarifying ambiguous genitalia
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Clarifying ambiguous genitalia

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The lecture explains the issue of sex development ,and the role of imaging in investigating the different situations of genital ambiguity.

The lecture explains the issue of sex development ,and the role of imaging in investigating the different situations of genital ambiguity.

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  • 1. Clarifying ambiguousgenitalia..Radiologist role. Dr/Ahmed Bahnassy Consultant Radiologist RMH
  • 2. Introduction
  • 3. Reproductive system development
  • 4. Embryology
  • 5. Sexual differentiation.
  • 6. ClassificationDSDs can be classified broadly into fourcategories on the basis of gonadal histologicfeatures:female pseudohermaphroditism (46,XX with twoovaries)male pseudohermaphroditism (46,XY withtwo testes);true hermaphroditism (ovotesticular DSD) (bothovarian and testicular tissues);and gonadal dysgenesis :either mixed (a testisand a streak gonad) or pure (bilateral streakgonads).
  • 7. Male pseudohermaphroditism• Persistent Mullerian duct syndrome.• Testicular unresponsiveness to HCG & LH (Leyding Cell Hypoplasia).• 5 Alpha Reductase Deficiency.• Androgen Insensitivity Syndrome (cAIS & pAIS).
  • 8. Work-upcoordinated medical team that includes apediatric endocrinologist, geneticist,urologist, and radiologistto ensure timely diagnosis and proper management.
  • 9. Role of imagingUS is the primary modality for evaluation of the internal reproductive organs,whereas genitography and voidingcystourethrography are used for evaluation of urethral and vaginal tracts and fistulas.MR imaging may serve as a problem- solving modality for clarifying the internal anatomy and searching for internal gonads.
  • 10. Ultrasound• Renal• Adrenal.• Pelvis.• Perineum.• Both inguinal regions.• Upper thighs !
  • 11. Adrenal Imaging
  • 12. partial androgen insensitivitysyndrome (Reifenstein syndrome)
  • 13. Ovotesticular DSD
  • 14. MGD
  • 15. Fluoroscopy-GenitographyIt is important to examineall perineal orifices and insert the catheter fora short distance into each orifice to preserve itsmorphologic appearance.A good maneuver is tofill the balloon of an 8-F Foley catheter outsidethe body and insert just the distal tip, performinga retrograde injection.
  • 16. Cloacal anomaly
  • 17. Urogenital sinus
  • 18. Complex urogenital sinus anomaly
  • 19. Role of MRIEctopic gonads, testes, and noncysticimmature ovaries have intermediate signal intensity on T1-weighted MR images and high signal intensity with an intermediate-signal-intensity outer rim on T2-weighted images
  • 20. Testis in MRI
  • 21. Ovaries in MRI
  • 22. Streak gonads are difficult to detect and can be seen as low-signal-intensity stripes on T2-weighted images .High-signal-intensity foci in streak gonadscould represent neoplastic change .
  • 23. Algorithm
  • 24. Risk of NeoplasmBecause 20%–30% of children with XY PGDand 15%–20% with MGD develop a gonadalneoplasm within the 1st or 2nd decade of life,streak gonads should be removed .The presence of a well-defined part of the Y chromosome(GBY [gonadoblastoma locus on theY chromosome]) is implicated in the developmentof malignant neoplasms in dysgeneticgonads .Gonadoblastoma is the most commontumor, usually arising from dysgeneticintraabdominal gonads
  • 25. AttentionThe presence of an echogenic focus atUS associated with the pelvic organs orfound in ectopic gonadal tissue within theinguinal canals or labioscrotal folds shouldbe regarded with suspicion, sincegonadoblastomas often calcify.
  • 26. Testicular Neoplasm
  • 27. Wilm’s Tumour There is increased risk of developingWilms tumor, particularly when XY gonadal dysgenesis is associated with glomerulopathy in Drash syndrome
  • 28. Breast CancerRisk factors for male breast cancer includeconditions with increased estrogenexposure, such as advanced age,cryptorchidism, testicular injury,Klinefelter’s syndrome, and liverdysfunction.