Swyer Syndrome in Phenotypic Female with 46,XY Karyotype
Published: November 1, 2018 | DOI: https://doi.org/10.7860/JCDR/2018/36772.12242
D Prashanth Shetty, Meenakshi Arumugam, Jayarama S Kadandale, Suchetha Kumari
1. Professor and Coordinator, Department of KSHEMA Centre for Genetic Services, K.S. Hegde Medical Academy, Mangaluru, Karnataka, India.
2. Lecturer, Department of KSHEMA Centre for Genetic Services, K.S. Hegde Medical Academy, Mangaluru, Karnataka, India.
3. Adjunct Professor, Department of Cytogenetics, Centre for Human Genetics, Bengaluru, Karnataka, India.
4. Professor, Department of KSHEMA Centre for Genetic Services, K.S. Hegde Medical Academy, Mangaluru, Karnataka, India.
Correspondence
Mrs. Meenakshi Arumugam,
Lecturer, Department of KSHEMA Centre for Genetic Services, K.S. Hegde Medical Academy,
Mangaluru-575018, Karnataka, India.
E-mail: hellomeenaa@gmail.com
Individuals with Swyer syndrome have an XY karyotype and are phenotypically female. The prevalence of Swyer Syndrome is about 1 in 30,000 and it is an extremely rare condition. The present study aimed to describe the phenotypic and genotypic variations of two patients with Swyer syndrome. Case 1: A 24-year-old female who presented with primary amenorrhea, infertility with increased FSH level (59.91 mLU/mL) and Case 2: A 29-year-old female with primary infertility was referred. A 2 mL of peripheral blood was drawn for karyotyping. Cytogenetic analysis was carried out using standard GTG banding technique. Cytogenetic analysis revealed a 46,XY karyotype in Case 1 and 46,XY,15cenh+ in Case 2. Q-Banding confirmed the presence of Y chromosome. In addition, Fluorescence In Situ Hybridization (FISH) using CEP X and Y probe and LSI SRY/CEPX probe confirmed the presence of SRY on the Y chromosome. The result showed the presence of sex-determining region of the Y chromosome and also validating the cytogenetic and molecular cytogenetic interpretations. Earlier diagnosis is important and karyotyping is mandatory in these cases.
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