Received April 22, 2022
Accepted October 28, 2022

Disorders of sexual differentiation are rare congenital conditions in which the chromosomal, anatomic or gonadal sex development is atypical. In these patients’ chromosomal sex is inconsistent with phenotypic sex, in other case the phenotype is not classifiable as either male or female, this condition is known as ambiguous genitalia. These are very complex cases in which a certain diagnosis is not always possible. Surely a multidisciplinary team including geneticists, pediatricians, radiologists is needed in the approach to these patientsWe present a case of 18-year-old boy, with an XY karyotype, ambiguous genitalia, uterus and blind bottomed vaginal pouch. This guy who had never been diagnosed with disorder of sex development. The patient underwent a pannel of genetic analyzes and diagnostic imaging investigations. In particular, the magnetic resonance has been decisive for the identification of the internal genital organs, especially the uterus. At the end of these investigation was proposed the diagnosis of with disorder of sex development 46 XY-linked. Our purpose is to underline the role of diagnostic imaging in the diagnosis and management of congenital disorders of sexual differentiation.