Disorders of Sex Development

  • Thomas F. Kolon


Phenotypic sex results from the differentiation of internal ducts and external genitalia under the influence of hormones and other factors. When discordance occurs among three processes (chromosomal, gonadal, phenotypic sex determination), a disorder of sex development (DSD) is the result. This has previously been identified as “intersex” or “intersexuality” but new nomenclature has replaced the use of the term intersex and now refers to it as DSD. The diagnosis and management of DSD conditions can be confusing because of the wide spectrum in physical appearance often observed. An important issue with any DSD evaluation is not to get overwhelmed by the enormity of the differential diagnosis possibilities. Instead, by working systematically through the differential diagnosis pathway based on the physical exam and laboratory findings, many possible diagnoses can be discarded along the way.


Congenital Adrenal Hyperplasia External Genitalia Gonadal Dysgenesis Androgen Insensitivity Syndrome Complete Androgen Insensitivity Syndrome 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Pediatric UrologyUniversity of Pennsylvania School of Medicine, Children’s Hospital of PhiladelphiaPhiladelphiaUSA

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