Authors : Swarnalatha Daram; Prashanth M.; Keerthana Maram; Pulipati Rojeesha; Venkata Subramanian K.; V. Anjali; Annvia A.; Vidyadhari M.

Volume/Issue : Volume 11 - 2026, Issue 7 - July

Google Scholar : https://tinyurl.com/ua73rxwj

Scribd : https://tinyurl.com/4uufzp5p

DOI : https://doi.org/10.38124/ijisrt/26jul1692

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Abstract : Background Swyer syndrome is typically characterized by a 46,XY karyotype in females with complete gonadal dysgenesis. Mosaic chromosomal constitutions are associated with marked phenotypic variability, posing challenges in diagnosis and clinical management. Variable gonadal differentiation and the presence of Y chromosome significantly increase the risk of gonadal germ cell tumors, highlighting the importance of early cytogenetic diagnosis, molecular characterization.  Methods A total of 4110 female samples were considered for the study during 2021 to 2026 and diagnosed Karyotyping at Department of Genetics and Molecular Medicine in Manipal TRUtest Diagnostics. Comprehensive clinical evaluation, including hormonal profiling and Ultrasonographic studies, was considered to assess gonadal morphology and uterine development. Conventional cytogenetic and FISH analysis was subsequently carried out to identify underlying chromosomal abnormalities and establish the genetic diagnosis.

Keywords : Swyer Syndrome, Gonadal Dysgenesis, Mosaicism, Primary Amenorrhea, Cytogenetics.

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