title: Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis.
abstract: OBJECTIVE
  Congenital genitalia anomalies are a spectrum of malformation, difficult to classify because similar or identical phenotypes could have several different aetiology; therefore it's essential to assess an efficient diagnostic algorithm for a quick diagnosis and to develop an efficient therapeutic strategy. The aim of this study is to underline the importance of imaging in case of ambiguous genitalia due to its high sensitivity and specificity in detecting internal organs and urogenital anatomy.
  
  
  METHODS
  We report a case of a young girl affected by a complex genitor-urinary malformation with an initial wrong anamnesis that led to a tricky diagnosis.
  
  
  RESULTS
  Imaging techniques - especially Magnetic Resonance Imaging (MRI) - together with karyotype, hormones and physical investigations, offered complete and reliable informations for the best surgical treatment of our patient.
  
  
  CONCLUSIONS
  Karyotype, hormones investigation, and radiological examinations are the main criteria considered in the diagnostic iter. Ultrasonography (US) is the primary modality for the detection of the presence or absence of gonads and müllerian derivatives, whereas Cystourethrography can define urethral and vaginal tract or the presence of fistulas. In our experience MRI, due to its multiplanar capability and superior soft tissue characterization, proved to be useful to provide detailed anatomic information.
authors.forename: Maria Giuseppina
authors.initials: MG
authors.lastname: Onesti
authors.forename: Michele
authors.initials: M
authors.lastname: Maruccia
authors.forename: Valentina
authors.initials: V
authors.lastname: Sorvillo
authors.forename: Paola
authors.initials: P
authors.lastname: Parisi
authors.forename: Benedetta
authors.initials: B
authors.lastname: Fanelli
authors.forename: Martina
authors.initials: M
authors.lastname: Ruggieri
authors.forename: Lucia
authors.initials: L
authors.lastname: Manganaro
authors.forename: Nicolò
authors.initials: N
authors.lastname: Scuderi
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D000293:Adolescent; D015982:Bias; D005260:Female; D006801:Humans; D059785:Karyotype; D008279:Magnetic Resonance Imaging; D008487:Medical History Taking; D011237:Predictive Value of Tests; D012680:Sensitivity and Specificity; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography; D014621:Vagina / Q000002:abnormalities* / Q000601:surgery