Management of Infants Born with Disorders/Differences of Sex Development

Disorders of sex development (DSD) replaced historical terminologies like intersex, hermaphroditism, and ambiguous genitalia in 2006; however, the wording remains controversial. The current genetic-based classification system of DSD highlights the importance of chromosomal analysis in diagnosing and managing individuals with DSD. Despite advances in genetics, there has been little change in the endocrine treatment of DSD over the last few decades. On the other hand, there has been an evolving debate about medically and nonmedically necessary genital surgery efficiency and timing. Further, the creation of a resolution by the Council of Europe in 2013 on protecting children’s rights to physical integrity demands that no one be “subjected to unnecessary medical or surgical treatment that is cosmetic rather than vital for health during infancy or childhood”. Additionally, there is an emphasis on the value of shared decision-making on issues such as initial gender assignment in the newborn and genital surgery. More transparency from physicians and other health professionals with families and patients is now the rule. There has been an evolving shift to a patient and family-centered approach to optimize quality of life. The aims of this chapter are to (1) provide a concise description of the mechanisms controlling normal and abnormal sexual differentiation; (2) share a protocol used at the John R. Oishei Children’s Hospital in Buffalo, New York, for the practical management of infants born with DSD; (3) provide information to guide the physician when making a DSD diagnosis and designing medical management; (4) provide new behavioral information on DSD; and (5) highlight current differences of opinion regarding the care of infants born with DSD.