Updates from our Clinical Working Groups: January 2022


The Anatomy/Surgery workgroup meets regularly to discuss and advance issues of particular interest to urologists, gynecologists and pediatric surgeons who care for patients with DSD. We are currently focused on implementing a new way of collecting anatomic data, and contributing the surgeon perspective to the clinic and research aims of the TRN.


The Endocrine Workgroup is currently working on publication of Best Practices for CAH Newborn Screening for 2022. A descriptive series of complete and partial androgen insensitivity cases is in preparation for publication in 2022 in collaboration with several workgroups.


The Fertility Workgroup seeks to improve fertility outcomes in DSD. This includes assessing fertility potential in various conditions based on current data, current technology and investigational techniques as well as disseminating this knowledge and resources to patients and providers.


The Genetics workgroup is involved with two major projects at this time: (1) the genetics, psychosocial, anatomical, and endocrine features of ovotesticular DSD and (2) the phenotypic and genetic variability in individuals with variants in the NR5A1 gene. There is also a research group assessing the ability of a new genetic tool called Optical Genomic Mapping (supported by the Bionana platform). We hope this new technology will be able to detect a wide range of genetic variants in DSD, which will support clinical testing in the future.


The Psychosocial Workgroup has been working on multiple projects aimed at progressing the psychosocial care of people with DSD. These projects include development of an intervention for parents shortly after the birth of their child, research on the gender identity and feelings about the self among people with DSD, and understanding how professionals assess the psychosocial functioning of people with DSD.