Disorders of sexual differentiation are rare congenital conditions in which the
chromosomal, anatomic or gonadal sex development is atypical. In some of these
patients, chromosomal sex is inconsistent with phenotypic sex; in other cases,
the phenotype is not classifiable as either male or female, resulting in a
condition known as ambiguous genitalia. These are very complex cases in which
diagnostic certainty is not always possible. A multidisciplinary team including
geneticists, pediatricians, radiologists is certainly needed to approach these
patients. We present the case of an 18-year-old boy with an XY karyotype,
ambiguous genitalia, uterus and blind-ending vaginal pouch. The patient had not
been previously diagnosed with a disorder of sex development. The patient
underwent a panel of genetic analyses and diagnostic imaging investigations.
Magnetic resonance imaging was decisive for the identification of the internal
genital organs, especially the uterus. At the end of investigations, the patient
was diagnosed with 46,XY disorder of sex development. Our purpose is to
underline the role of imaging in the diagnosis and management of congenital
disorders of sex differentiation.