Imaging of ambiguous genitalia: classification and diagnostic approach.
Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. DSDs can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries); male pseudohermaphroditism (46,XY with two testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads). Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs; genitography is used to assess the urethra, vagina, and any fistulas or complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management.
Chavhan
Govind B
GB
Department of Diagnostic Imaging, Hospital for Sick Children and University of Toronto, Toronto, ON, Canada. drgovindchavhan@yahoo.com
Parra
Dimitri A
DA
Oudjhane
Kamaldine
K
Miller
Stephen F
SF
Babyn
Paul S
PS
Pippi Salle
Foao L
FL
D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000175:diagnosis*; D005260:Female; D005835:Genitalia / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D014463:Ultrasonography / Q000379:methods*