Disorders of Sex Development

August 2021 in “ Pediatrics in review ”

Alejandro Díaz, Elizabeth G. Lipman Diaz

Disorders of Sex Development DSDs sex chromosomes gonads genital anatomy virilization 46,XY fetus androgen synthesis androgen action masculinization 46,XX fetus gonadal function ambiguous genitalia genetic testing molecular diagnosis

TLDR DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

The document "Disorders of Sex Development" by Alejandro Diaz, MD, discusses Disorders of Sex Development (DSDs), a diverse range of innate conditions resulting from abnormal development of sex chromosomes, atypical growth of the gonads and genital anatomy. DSDs can occur due to insufficient virilization of the genitalia in a 46,XY fetus because of disorders of gonadal development, abnormal androgen synthesis, or disorders of androgen action, or due to the masculinization of the genitals of a 46,XX fetus. The phenotypic expression of DSDs is broad, ranging from minor variations of gonadal function and genital appearance to severely atypical gonads and genitalia. The document emphasizes that ambiguous genitalia, often associated with DSDs, are not a medical and social emergency but require a systematic, team-oriented approach. Genetic testing and molecular diagnosis can enhance understanding of conditions that produce ambiguous genitalia and allow better planning for gender assignment and further care.

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