Navigating a Case of Swyer Syndrome with Congenital Heart Disease
A 38-year-old female underwent septal closure for a large ostium secundum atrial septal defect (ASD) as she had progressive dyspnea. She was also found to have primary amenorrhea, for which she was evaluated. The clinical examination and investigations revealed a female phenotype and a male karyotyp...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-10-01
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| Series: | Heart Views |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/heartviews.heartviews_139_24 |
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| Summary: | A 38-year-old female underwent septal closure for a large ostium secundum atrial septal defect (ASD) as she had progressive dyspnea. She was also found to have primary amenorrhea, for which she was evaluated. The clinical examination and investigations revealed a female phenotype and a male karyotype (46 XY). She was diagnosed with Swyer syndrome and subsequently started on hormone replacement therapy. This case highlights the presence of congenital heart disease and large ostium secundum ASD with left to right shunt in patients with Swyer syndrome, which has not been reported in the literature. |
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| ISSN: | 1995-705X 0976-5123 |