Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia

Justin A. Indyk


The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG). However, other important aspects cannot be overlooked, and these include parental and cultural views, as well as the future outlook in terms of surgery and fertility potential. Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. The multiple facets of this approach are outlined in this review.