Clinical profile of 28 cases of disorders of sexual development in a referral center
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Abstract
Background: Disorders of sexual development (DDS) include a group of rare clinical entities. The low prevalence of these diseases and their social impact on the community require the systematic registration of the clinical information of the patients. Objective: To characterize the clinical spectrum of cases of disorders of sexual development other than Turner and Klinefelter syndrome evaluated at the Hospital Universitario San Ignacio. Methods: for each case, an electronic form designed in the RedCap® tool was filled out, the variables considered for the registry were chosen following the recommendations of the International Registry of Sexual Differentiation Disorders (I-DSD). A total of 28 patients were included, 2 were diagnosed with a type of sex chromosome disorder, 17 were diagnosed with a 46, XY type of sexual development disorder and 9 with some type of 46, XX sexual development disorder. Different molecular tests were performed in 96.4% of cases, managing to define an etiological diagnosis in 7/28 of the cases. Conclusions: our findings highlight the importance of cytogenetic studies as first-line tests in the diagnostic approach of patients with DDS. This work is the beginning of the first registry of disorders of sexual development, not only institutional but also national, and will very surely provide academic bases for the construction and execution of future research that will generate evidence-based recommendations to improve the clinical care of individuals affected with some type of DDS.
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