title: Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.
abstract: Our understanding of disorders of sexual differentiation (DSD) has evolved from aberrations of human genital development to a broad group of complex disorders of etiological and functional significance. The unique challenge of DSD conditions is that they create a cause for significant angst and concern for both parents and physician, as they frequently lead to questions with regards to gender assignment, surgically corrective options, long-term outlook regarding gender identity, and reproductive potential. To further add to the burden, many patients who present with genital abnormalities do not have a clear explanation as to the underlying basis of their disorder. This review looks at DSD from a pediatric urology point of view with emphasis on evaluation, diagnosis, and algorithm for work-up. We also discuss novel genetic analysis techniques and their value in diagnosis. Overall, this is an all-encompassing review on a diagnostic approach to DSD, with inclusion of recent developments and controversies, which will benefit urologists and other physicians alike.
authors.affiliation: Division of Urological Surgery, Washington University in Saint Louis, Saint Louis, MO, USA. rawala@wudosis.wustl.edu.|PGY-3, Division of Urological Surgery, Washington University School of Medicine, Saint Louis, MO, USA. rawala@wudosis.wustl.edu.
authors.forename: Amar Y
authors.initials: AY
authors.lastname: Rawal
authors.affiliation: Division of Urological Surgery, Washington University in Saint Louis, Saint Louis, MO, USA. austinp@wustl.edu.|St. Louis Children's Hospital, Washington University School of Medicine, Saint Louis, MO, USA. austinp@wustl.edu.
authors.forename: Paul F
authors.initials: PF
authors.lastname: Austin
mesh_terms: D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000191:economics / Q000628:therapy; D005783:Gender Identity; D006801:Humans; D009369:Neoplasms / Q000209:etiology; D012098:Reproduction; D012307:Risk Factors; D016896:Treatment Outcome
keywords: Disorders of sexual differentiation; Gender identity; Pediatric urology