Disorders of Sex Development (DSD) in the Newborn

The newborn infant with a suspected disorder of sex development (DSD) presents a challenging scenario. It is paramount that any such chid is assessed by an expert with adequate knowledge about the range of variation in the physical appearance of genitalia, the underlying pathophysiology of disorders of sex development and the strengths and weaknesses of the tests that can be performed in early infancy. By working within a multidisciplinary team, the DSD expert can ensure that the parents’ needs for information are comprehensively addressed and that appropriate investigations are performed in a timely fashion. In the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration so that any evidence for future changes in practice have a stronger foundation than that which is currently available.