Karyotype Anomalies in Patients with Disorders of Sexual Development

Monique Morrison; Sangeeta Patel; Sou Saukam; Alycia Willard; Maria Grace Santiago; Diana Martinez; Valerie Miller; Micah Jacobs; Angela Scheuerle; Prasad Koduru

Karyotype Anomalies in Patients with Disorders of Sexual Development

J Assoc Genet Technol. 2023;49(2):73-78.

Affiliations

¹ Department of Pathology, University of Southwestern Medical Center, Dallas, TX.
² Department of Urology (Pediatric Urology), University of Southwestern Medical Center, Dallas, TX.
³ Department of Pediatrics, University of Southwestern Medical Center, Dallas, TX.

PMID: 37269301

Abstract

Objectives Disorders of sex development(DSD)can result in discordance between the chromosomal and anatomicand/orphenotypic sex of a patient. Reporting patients with uncommon karyotypes associated with DSD is important for clinical comparison of developmental outcomes, and management. Methods We describe three female patients with karyotypes resulting in DSD and the use of a combination of chromosomes and FISH techniques to identify potential causes. Results The first patient was mosaic for idic(Y) that was negative for SRY by FISH. The second patient had idic(Y) that was positive for SRY by FISH. The third patient had an unbalanced translocation between the X chromosome and chromosome 2 [der(2)(X;2)] and XY. These three patients illustrate three different genetic mechanisms underlying DSD. Conclusion Our findings expand the list of abnormal karyotypes that can be associated with DSD and highlight the importance of SRY and DAX1 in phenotypic and functional sexual development.