Evaluation of the newborn with developmental anomalies of the external genitalia

C. I. Kaye, C. Cunniff, J. L. Firas, J. Moeschler, S. R. Panny, T. L. Trotter

Research output: Contribution to journalArticlepeer-review

120 Scopus citations


The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the primary care pediatrician. It is important that a definitive diagnosis be determined as quickly as possible so that an appropriate treatment plan can be established to minimize medical, psychological, and social complications. The purpose of this review is to identify 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 diagnosis and management of these disorders. An outline is also presented of the embryology of the external genitalia indicating where errors can arise to provide a framework for pediatricians to use when counseling families. Although the focus of this review is on newborns with what has been termed 'ambiguous genitalia,' it should be recognized that most genital abnormalities in newborns do not result in an ambiguous appearance. These anomalies include hypospadias, in which the genitalia are clearly malformed, although the sex is unquestionably male.

Original languageEnglish (US)
Pages (from-to)138-142
Number of pages5
Issue number1 I
StatePublished - Jul 2000
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Evaluation of the newborn with developmental anomalies of the external genitalia'. Together they form a unique fingerprint.

Cite this