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Key Points

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  1. The infant born with the greatest discordance between genetic sex and phenotypic appearance is at most risk for psychological consequences as a result of confusion of gender identity.

  2. Congenital adrenal hyperplasia (CAH) or the adrenogenital syndrome due to excessive endogenous androgen production in genetic females is the main cause of masculinization of the external genitalia in 46XX individuals.

  3. Mutations of variable type and severity in the AR gene result in a spectrum of forms of the androgen insensitivity syndrome (AIS), the most common cause of a male DSD.

  4. An abnormality of the sex chromosomes usually results in failed, incomplete, or asymmetric gonadal differentiation.

  5. Female and male DSD disorders (DSDs) have symmetric gonads, and ovotesticular DSDs or children with mixed gonadal dysgenesis have asymmetric gonads.

  6. Female children with DSD and most children with ovotesticular DSD are chromatin positive and lack a fluorescent Y. A fluorescent Y chromosome is found in children with male DSD and mixed gonadal dysgenesis.

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As defined by the Intersex Society of North American, “intersex” is a general term used for a variety of conditions in which a person is born with a reproductive or sexual anatomy that does not seem to fit the typical definitions of female or male. Caring for a child with a Disorder of Sexual Differentiation (DSD) requires skill and compassion. These disorders are statistically uncommon and are caused by a variety of conditions. The estimated incidence of true intersex is 0.018%. When conditions such as the Klinefelter syndrome and the Turner syndrome are included in the definition of intersex, the incidence may be as high as 1.7%. Although an atypical appearance of the genitalia is most often seen at birth, this is not always the case and the diagnosis may be made at a remote time from birth, including at puberty and into adulthood.

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The overall management of an infant or child with an intersex disorder is complex and necessitates the involvement of a team, which may include a neonatologist, geneticist, pediatric endocrinologist, pediatric surgeon, pediatric urologist, pediatrician, gynecologist, and/or psychiatrist. The infant born with the greatest discordance between genetic sex and phenotypic appearance is at most risk for psychological consequences as a result of confusion of gender identity. Gender assignment in these children or the process by which the sex of rearing is decided is something that ideally should be done expeditiously but in the future best interests of the child and family. This assignment depends on many factors including the etiology of the disorder, the magnitude of anatomic abnormalities, the potential for future sexual and reproductive function, and the capabilities and/or limitations of surgical reconstruction. The issue of gender assignment in some circumstances has been refined based on increasing knowledge of the natural history of certain disorders and the ultimate prediction of gender identity, which is the person's conscious and unconscious feelings of belonging to one sex or the other. In the 1920s, Bernice L. Hausman ...

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