Manuscript Topics

With the advent and subsequent application of whole exome and whole genome sequencing into clinical care, more individuals with Disorders of Sex Development (DSD) are receiving a genetic diagnosis for their features. Such testing has also lead to gene discovery and a better understanding of the mechanisms that lead to the clinical features of DSD. The advantages to affected individuals of having a genetic diagnosis (as opposed to purely a clinical one) are many-fold. As we learn more about the genetics of DSD, we are better able to define genotype-phenotype correlations, leading to the expansion of the clinical phenotypes of some well-described classic DSD diagnoses. Because many of these conditions are just now being diagnosed on a genetic level as opposed to a clinical level, the natural history of some classic DSD conditions has necessarily changed. Therefore, clinicians from multiple specialties (including Urology, Endocrinology, Obstetrics and Gynecology, and Psychology, to name a few) must rethink the most appropriate course of action for any given individual with a DSD diagnosis, particularly those who do not have a “classic” presentation. In order for clinicians to provide state of the art treatment for these individuals, the subtleties of many of these diagnoses must be reported and disseminated within the medical community and the larger patient community. Additionally, collaboration and discussion between the various medical care providers, partnering with the affected individual and the affected individual’s family, are becoming more important. A team approach is needed to explore the nuances of any given diagnosis and to tailor care accordingly.

This issue invites articles that address gene discovery in DSD, genotype-phenotype correlations, expanding phenotypes of previously reported “classic” DSD diagnoses, state of the art treatment, and controversies regarding surgical management of DSD. Particular emphasis will be placed on studies performed in a clinical setting and care that utilizes a patient-centered team approach

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