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Management of the infant with atypical genitalia (disorder of sex development)

Christopher P Houk, MD
Laurence S Baskin, MD, FAAP
Lynne L Levitsky, MD
Section Editor
Mitchell E Geffner, MD
Deputy Editor
Alison G Hoppin, MD


Individuals with a congenital discrepancy between the appearance of their external genitalia and gonadal and chromosomal sex are classified as having a disorder of sex development (DSD) [1]. Abnormalities sufficient to prompt evaluation (excluding uncomplicated cases of cryptorchidism and hypospadias) occur in approximately one in 1000 to 4500 live births [2-5].

The birth of an infant with atypical genitalia presents a unique set of challenging management issues. This is because psychosexual development is influenced by multiple factors including the genes involved in sexual development, gender differences in brain structure, prenatal androgen exposure, societal and cultural factors, and family dynamics. In the past, decisions about sex of rearing were usually based on potential for reproduction and traditional sexual function and were often accompanied by irreversible genital surgery [6-8]. Long-term outcome data are now available to help predict gender identity for many infants with DSDs and provide insight into appropriate early management decisions [9-13]. Nonetheless, there is ongoing controversy about some aspects of management, especially for certain types of DSDs for which gender identity remain unpredictable. Thus, uncertainties about adult outcome, gender of rearing, and timing of surgery should contribute to discussions and informed decision-making by the parents. Each child and family will have unique characteristics so that all decisions should be made on a case-by-case basis.

The management of infants with clinically significant DSD will be discussed here. The evaluation of these infants is discussed separately. (See "Evaluation of the infant with atypical genitalia (disorder of sex development)".)


Although the term DSD has been accepted by the medical community, patients and support groups question its usefulness and appropriateness based on three criticisms: first, that DSD is an overly broad term that applies to conditions in which no sexual/gender disruption is expected (eg, Turner syndrome, Trisomy X, and others); second, that this broad term lacks sufficient specificity to be helpful diagnostically; and third, that the use of the word 'disorder' is seen as pejorative by some. Many of these groups do not accept the DSD designation and feel that it should be abandoned by the medical community.

Until a consensus is reached on this issue, we will use the term DSD but will employ it only in relation to those patients in whom there is altered physical sexual differentiation (conditions previously captured by the term "intersex"). Many of these individuals present as newborns with an atypical genital appearance previously termed "ambiguous genitalia." We will not use DSD to refer to conditions in which genital/gender discordance is not expected, such as Klinefelter syndrome, undescended testes, or all but the most severe forms of hypospadias. In many patients who present with atypical genitalia it is now possible to make an accurate diagnosis in a timely fashion, thereby avoiding the use of the term DSD.

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Literature review current through: Nov 2017. | This topic last updated: Apr 18, 2017.
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