Abstract
Disorders of sex development (DSD) refer to congenital conditions with a typical development
of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there
are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex chromosome
DSD. Imaging, as part of a multidisciplinary approach to management of DSD, has a
key role in gender assignment. The main role of imaging is to help in identifying
the gonads and the Müllerian structures. Ultrasound is useful, especially in the neonate
with ambiguous genitalia. Magnetic resonance imaging is a useful modality to locate
and characterize the gonads in young girls with primary amenorrhea and also to identify
streak gonads, which have a risk of malignancy.
Keywords
disorders of sex development - DSD - imaging - ambiguous genitalia - gonads