Abstract
Differences/disorders of sex development (DSD) are a heterogenous group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. DSD’s main categories are based on the chromosomal constitution of the sexual pair (sex chromosome; 46,XX; and 46,XY DSD). Classification also recognizes the underlying pathways of normal sexual differentiation: gonadal development and hormonal synthesis and action. Clinical findings that suggest DSD and need for further evaluation are different throughout life. Patients usually present during the newborn period; however, some cases remain unrecognized until later in infancy or even adolescence. Diagnostic evaluation begins with a complete review of personal and family history, a thorough physical exam, and a detailed assessment of the external genitalia. Investigations include biochemical and genetic determinations, and imaging studies to assess internal genital anatomy. Laparoscopic and histological evaluations might be needed to complete the diagnostic process. Surgeons are important members of the multidisciplinary expert team involved in the initial approach and long-term follow-up. The main goals of the surgical procedures should be to adequately manage the genitourinary anomalies to reduce urologic problems, reduce the risk of gonadal germ-cell cancer, avoid incongruent pubertal development in relation to gender identity, and facilitate sexual function and reproduction, among others. Recommendations regarding the opportunity and timing of surgical procedures are still under debate. Many aspects need to be considered when deciding on the appropriate treatment strategy: genital appearance, psychosocial support, sociocultural background, gender identity development, and genetic and biochemical analysis, in addition to ethical and legal implications.
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Bailez, M.M., Costanzo, M., Ruiz, J. (2023). Different Sexual Development. In: Puri, P. (eds) Pediatric Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38482-0_187-1
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