Ambiguous Genitalia



Ambiguous Genitalia


Roya Sohaey, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Clitoromegaly


  • Microphallus


Less Common



  • Hypospadias


Rare but Important



  • Cloacal Exstrophy/Malformation


ESSENTIAL INFORMATION


Key Differential Diagnosis Issues



  • Accurate prenatal diagnosis difficult



    • Do not assign gender prenatally


    • Genetic amniocentesis helpful


    • Look carefully for other anomalies


  • Aneuploidy/syndrome associations



    • Trisomy 13


    • Triploidy


    • Deletion/translocation abnormalities


    • Syndromes



      • Smith-Lemli-Opitz


      • Prader-Willi


  • Abnormal hormone influence



    • Female pseudohermaphrodite (46,XX)



      • Excess androgenesis


      • Congenital adrenal hyperplasia


    • Male pseudohermaphrodite (46,XY)



      • Abnormal response to testosterone


      • Deficient testosterone production


    • True hermaphrodite



      • Extremely rare


      • Genetic female with Y chromatin


      • Mosaic (46,XX/46,XY)


    • Mixed or pure gonadal dysgenesis



      • Variable karyotypes (mosaics common)


Helpful Clues for Common Diagnoses



  • Clitoromegaly



    • Idiopathic when mild


    • Enlarged clitoris between labial folds



      • Can mimic penis


    • Clitoris points inferiorly on sagittal views



      • May help differentiate from small penis, which points cranially


  • Microphallus



    • Often with cryptorchidism



      • Empty scrotum mimics labia


    • Can look identical to clitoromegaly


Helpful Clues for Less Common Diagnoses



  • Hypospadias



    • Urethra opens on ventral side of penis


    • Common associated genital anomalies



      • Small penis


      • Chordee (curved penis)


      • Cryptorchidism


Helpful Clues for Rare Diagnoses

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Aug 10, 2016 | Posted by in OBSTETRICS | Comments Off on Ambiguous Genitalia

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