Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis

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.

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.

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.

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.