The radiologist's role in assessing differences of sex development

Abstract

When infants are identified with a difference of sex development (DSD), a thoughtful approach to imaging is essential to appropriate clinical management. This review provides a comprehensive guide for radiologists who are tasked with performing this critical assignment. We review the embryologic basis of DSDs, with attention to the imaging findings that can indicate specific diagnoses. We also discuss techniques for optimal imaging, including strategies for identifying the gonads by US, tactics for performing genitograms with fluoroscopy and contrast-enhanced US, and the appropriate utilization of MRI. Finally, we review the clinical data and imaging findings that characterize some of the most common DSDs, including congenital adrenal hyperplasia, complete androgen insensitivity syndrome and gonadal dysgenesis.

Keywords: Ambiguous genitalia; Children; Complete androgen insensitivity syndrome; Congenital adrenal hyperplasia; Difference of sex development; Disorder of sexual differentiation; Genitogram; Gonadal dysgenesis; Infant; Magnetic resonance imaging; Neonate; Ultrasound.