Ambiguous Genitalia

  • Cinzia Orazi
  • Marco Cappa
  • Paolo M. S. Schingo
  • Paolo Tomà
Part of the Medical Radiology book series (MEDRAD)


Sexual differentiation goes through three successive phases, including genetic sex determination (genetic sex), primary sexual differentiation, or male/female gonadal development (gonadal sex) and secondary sexual differentiation, or male/female genitalia development (genital sex). Besides, environmental factors can influence sexual and psychological identity. Anomalies in each of these phases can lead to pathologies of sexual development, in which the normal progression of events is disrupted, resulting in disorders of sexual development (DSD), which include genital ambiguity, that is clinical conditions of external genitalia which do not have the typical appearance of male or female genitalia. The age of presentation of DSD varies from the neonatal age to late adolescence, but most of the cases are observed in the perinatal period. As appropriate gender assessment is necessary for healthy physical and psychological development of the child, an early diagnosis must be elicited, to allow proper management, that is medical and/or surgical treatment, that can be necessary since the neonatal age or along life, and also possible preventive strategies, in terms of sexual function, fertility and risk of tumor development. The role of imaging in evaluating the anatomical condition is of paramount importance in the assessment of gender. Ultrasonography (US) is the first-line imaging modality in the definition of the internal and external reproductive organs. US examination can be easily performed and should include, besides the pelvis and the scrotum, also the inguinal, perineal, renal, and adrenal regions, because of the possible involvement or the presence of associated anomalies. Magnetic resonance imaging (MRI), with multiplanar acquisitions and tissue characterization, allows better spatial and structural definition of the internal organs, especially when US fails to identify and/or define exactly the Müllerian structures and the gonads. MRI should include the pelvis and the perineum and also the urinary tract. Genitography and voiding cystourethrography are used to determine internal ductal anatomy. Endoscopic examination (genitoscopy) can often outpace genitography and provide more detailed assessment of the genital tract. The management of DSDs with ambiguous genitalia represents a great challenge for clinicians and a multidisciplinary team is advisable, including at least specialists in endocrinology, surgery and/or urology, radiology, clinical psychology/psychiatry, nursing and neonatology. Clinicians and care givers should be really sensitive to the complex and subjectively unique physical, psychological, social and behavioral situation of DSD patients.


Congenital Adrenal Hyperplasia Gonadal Dysgenesis Urogenital Sinus Ambiguous Genitalia Androgen Insensitivity Syndrome 


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Copyright information

© Springer-Verlag Berlin Heidelberg  2012

Authors and Affiliations

  • Cinzia Orazi
    • 1
  • Marco Cappa
    • 1
  • Paolo M. S. Schingo
    • 1
  • Paolo Tomà
    • 1
  1. 1.Bambino Gesù Children’s HospitalRomeItaly

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