Evaluation of the newborn with developmental anomalies of the external genitalia

The newborn with abnormal genital development presents a difficult diagnost ic and treatment challenge for the primary care pediatrician. It is importa nt that a definitive diagnosis be determined as quickly as possible so that an appropriate treatment plan can be established to minimize medical, psyc hological, and social complications. The purpose of this review is to ident ify which newborns among those with abnormal genital development need to be screened for intersexuality, to outline the investigations necessary, and to suggest indications for referral to a center with experience in the diag nosis and management of these disorders. An outline is also presented of th e embryology of the external genitalia indicating where errors can arise to provide a framework for pediatricians to use when counseling families. Alt hough the focus of this review is on newborns with what has been termed "am biguous genitalia," it should be recognized that most genital abnormalities in newborns do not result in an ambiguous appearance. These anomalies incl ude hypospadias, in which the genitalia are clearly malformed, although the sex is unquestionably male.