IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
Genomic yields for differences in sex development (DSDs) across clinical settings
Audrey E. Squire 1 , Alex Keefe 1 , Lauren O’Sullivan 1 , Angela Hernandez 3 , Margarett Shnorhavorian 4 , Cate R. Paschal 5 , Elizabeth McCauley 6 , Stacey Haynes 6 , Tressa Hoekstra 4 , Patricia Y. Fechner 2 & Margaret P. Adam 1
1Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA; 2Department of Pediatrics, Division of Endocrinology, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA; 3Department of Obstetrics and Gynecology, Division of Pediatric and Adolescent Gynecology, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA; 4Department of Urology, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA; 5Department of Laboratory Medicine and Pathology, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA; 6Department of Child and Adolescent Psychiatry and Behavioral Medicine, University of Washington and Seattle Children’s Hospital, Seattle, WA, USA Correspondance to: [email protected]
Background: Differences in Sex Development (DSDs) encompass a broad group of conditions that include atypical chromosomal, gonadal or anatomic sex, and affected individuals can present across clinical settings. The underlying etiologies of DSDs are diverse, and a variety of genetic testing is routinely performed, including karyotypes, microarrays, targeted panels, exome/genome analysis and functional studies. Due to these various testing strategies, the cumulative diagnostic yield for this population has not been well characterized, especially in the era of clinical genome analysis.
Methods: We retrospectively reviewed 3 years (Jan 2023- Dec 2025) of clinical data for 133 children, adolescents and young adults with features of a DSD undergoing a genetics evaluation. We excluded those with Congenital Adrenal Hyperplasia and the common sex chromosome aneuploidies, including Klinefelter syndrome (47,XXY) and Turner syndrome (45,X and 45,X/46,XX).
Results: An underlying genetic etiology was identified for 47/133 (35.3%) of individuals overall. For those seen in the outpatient setting with isolated/nonsyndromic DSDs the diagnostic yield was 27/84 (32.14%), for those seen in the outpatient setting with a DSD and additional syndromic features the yield was 11/27 (40.7%), and for those seen in the inpatient setting, all of whom had syndromic features, the yield was 9/22 (40.9%). The most commonly recurring diagnoses included sex-chromosome abnormalities (mosaicism, aneuploidy, unbalanced translocation, n = 12), Androgen insensitivity syndrome (AIS, n = 6) and CHD7-related disorders (n = 4). For those with typical 46,XY chromosomes the molecular yield was 33/96 (34.4%), and for those with 46,XX chromosomes it was 2/25 (8%).
Conclusions: These results are consistent with other recent studies and highlight a higher genetic yield with increasing clinical complexity, as well as a notably higher single-gene yield in the context of a 46,XY chromosome complement compared to 46,XX. Clinical genetics evaluations continue to evolve, and over the last 3 years our team has shifted to a genome-first approach for most individuals with features of a DSD, especially for those with syndromic features. The diagnostic yield of genetic testing is expected to continue to increase with advancements in both technology and our understanding of human genetics.
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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