Abstract
Disorders of sex development (DSDs) are congenital anomalies in which chromosomal, genetic, gonadal, and/or internal/external genital sex are atypical. Most frequently, DSDs are due to genetic defects affecting gonadal differentiation (leading to gonadal dysgenesis) or sex hormone synthesis or action (leading to nondysgenetic DSDs). A malformative, nonendocrine DSD due to defects in the early morphogenesis of the anlagen of the reproductive tract is suspected in newborns with normal gonadal differentiation when the genital abnormalities are inconsistent with defective sex hormone secretion or action. Assessment of the karyotype and serum 17α-hydroxyprogesterone, testosterone, and anti-Müllerian hormone allows a rapid classification of DSD. An accurate etiologic diagnosis usually requires more complex genetic analyses. Because of the clinical heterogeneity of these conditions, management of patients with DSDs is complex and involves a multidisciplinary team.
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