Establishment of a standardized anatomic evaluation tool for patients with disorders of sex development (DSD) within the DSD Translational Research Network
Michael DiSandro, MD1, Vilain Eric, MD, PhD2, David Sandberg, PhD3, Emmanuele Delot, PhD2, Bernard Churchill, MD2, John Park, MD3, Margarett Shnorhavorian, MD, MPH4.
1UCSF, San Francisco, CA, USA, 2UCLA, Los Angeles, CA, USA, 3University of Michigan, Ann Arbor, MI, USA, 4Seattle Children's Hospital, Seattle, WA, USA.
Background: One of the specific aims of the Disorders of Sex Development Translational Research Network (DSD-TRN), which is a multi-institutional collaborative research network, is to create standardization of physical exam findings in patients with disorders of sex development (DSD) in order to increase diagnostic accuracy, decrease the number of patient physical exams, and allow for a better understanding of phenotype-genotype associations. Prior to the creation of the DSD-TRN, physical exam, radiographic, and intraoperative findings in patients with DSD’s were documented differently based on site. This led to discordance in the documentation of anatomic variations in patients with a DSD and made it impossible to accurately compare anatomic findings between different sites. It also led to multiple exams being performed on individual patients by different providers because each would need to “re-examine” the patient to verify the findings. The DSD-TRN thus developed comprehensive anatomic intake forms that standardized exactly what parameters to record and exactly how they should be recorded for each patient.
Methods: At the outset of the DSD-TRN in 2011 a group of pediatric urologists and patient advocates within the DSD-TRN convened to determine how best to capture anatomic variations in patients with a DSD. This collaboration led to the development of specific anatomic intake forms for physical exam findings, radiographic findings, and operative findings. Overall, there were 9 specific forms created for various different parameters: Physical Exam, Ultrasound, MRI, Genitogram, Intraoperative, EUA, Diag Lap, Cysto/Vagino, and Pathology. Over the ensuing five years these forms were utilized by all the sites of the DSD-TRN. There were monthly discussions among the sites to assist each other with filling out the forms. We retrospectively reviewed the number of forms filled out per patient per site, as well as grading each form based on how complete the information entered was (based on the percentage of data entered correctly). We also assessed the number of comments recorded on the form that were “written in” and used that number as a proxy for provider difficulty in understanding how to perform the standardized recordings.
Results: 224 anatomic intake forms were analyzed in 203 patients. Not all sites used all the forms: the Physical Exam form was used by the most sites (8), followed by the Ultrasound and EUA forms (6). The remaining forms utilization rate ranged from 2-6 sites. The percentage of information correctly recorded in the forms was initially low, but the percentage increased over the 5-year period. Provider difficulty in filling out the forms increased over the 5-year period as well, although there was still a high degree of difficulty even after 5 years.
Conclusion: The feasibility of using a comprehensive standardized anatomic intake form for patients with a DSD has been shown to be possible within the DSD-TRN, and thus standardization of anatomic findings should be possible for all patients with a DSD. The difficulty in filling out the forms completely and correctly has been shown to be difficult and will need to be addressed before such standardized forms are used nationally.
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