Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist From Experienced Clinicians

Jean D. Wilson, M.D.; Marco A. Rivarola, M.D.; Berenice B. Mendonca, M.D., Ph.D.; Garry L. Warne, A.M., M.B.B.S., F.R.A.C.P.; Nathalie Josso, M.D., Ph.D.; Stenvert L.S. Drop, M.D., Ph.D.; Melvin M. Grumbach, M.D.


Semin Reprod Med. 2012;30(5):339-350. 

In This Article

Abstract and Introduction


The birth of a child with ambiguous genitalia is a challenging and distressing event for the family and physician and one with life-long consequences. Most disorders of sexual differentiation (DSD) associated with ambiguous genitalia are the result either of inappropriate virilization of girls or incomplete virilization of boys. It is important to establish a diagnosis as soon as possible, for psychological, social, and medical reasons, particularly for recognizing accompanying life-threatening disorders such as the salt-losing form of congenital adrenal hyperplasia. In most instances, there is sufficient follow-up data so that making the diagnosis also establishes the appropriate gender assignment (infants with congenital adrenal hyperplasia, those with androgen resistance syndromes), but some causes of DSD such as steroid 5α-reductase 2 deficiency and 17β-hydroxysteroid dehydrogenase deficiency are associated with frequent change in social sex later in life. In these instances, guidelines for sex assignment are less well established.


Most individuals with (disorders of sex development) DSD have normal external genitalia, and the diagnosis of these patients is made later, usually at or after the time of expected puberty when they present with impairment of sexual maturity or infertility. The presence of sexual ambiguity in the infant constitutes a true medical emergency because the first question asked by parents and family inevitably concerns gender of the newborn and a broad section of society look upon sexual ambiguity as a shameful stigma. No challenge in the practice of medicine requires more knowledge, tack, and skill than the management of these children ( Table 1 ).

The view has been advanced by some that such children should be assigned a third sex and allowed to become female or male or remain a third sex after sexual maturation. In my opinion the major reason for this view stems from the fact that many subjects with ambiguous genitalia are handled poorly by physicians and families and many are subjected to inappropriate surgery. A consensus statement addressed to this problem emphasizes the importance of making a gender assignment in all newborn, because, among other reasons, only two types of bathrooms exist in public buildings. At the same time it is equally important that gender assignment not be made until the evaluation is complete and a diagnosis made. In completing a work-up and making the correct diagnosis, it is of vital importance to have access to a multidisciplinary team of experts and at the same time to enlist family participation in decision making. Throughout the whole work-up strict confidence must be observed in addressing all issues including family.[1]