Disorders of Sex Development (Chapter 243)
Lindsey A. Loomba-Albrecht, MD, Dennis M. Styne, MD, 2016. "Disorders of Sex Development (Chapter 243)", American Academy of Pediatrics Textbook of Pediatric Care, Thomas K. McInerny, MD, FAAP, Henry M. Adam, MD, FAAP, Deborah E. Campbell, MD, FAAP, Thomas G. DeWitt, MD, FAAP, Jane Meschan Foy, MD, FAAP, Deepak M. Kamat, MD, PhD, FAAP, Rebecca Baum, MD, FAAP, Kelly J. Kelleher, MD, MPH, FAAP
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Patients with ambiguous genitalia have disorders of sex development (DSD), previously termed intersex conditions. These are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Physical findings in patients with DSD may range from an apparently normal phenotype to complete ambiguity. Disorders of sex development is considered an endocrine emergency because many common forms of DSD (ie, congenital adrenal hyperplasia [CAH]) are associated with life-threatening electrolyte abnormalities, hypotension, and shock. In addition to the potential medical emergency, the psychological stress to the family cannot be overstated. Gender assignment in patients with genital ambiguity should be...