A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia
This case unveils a rare genetic intersection in which autosomal-dominant hereditary hemorrhagic telangiectasia (HHT) and Turner syndrome coexist in a 53-year-old woman. Clinical signs and symptoms included abdominal pain, arteriovenous malformations, and hormonal irregularities. Diagnostic testing...
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| Format: | Article |
| Language: | English |
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American College of Physicians
2025-01-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2024.0746 |
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| author | Diego Mateo Cornejo Gonzalez Imran Naeem Aziz Shreeya Atul Sawant Reem Yousef Darwish Joseph Guan |
| author_facet | Diego Mateo Cornejo Gonzalez Imran Naeem Aziz Shreeya Atul Sawant Reem Yousef Darwish Joseph Guan |
| author_sort | Diego Mateo Cornejo Gonzalez |
| collection | DOAJ |
| description | This case unveils a rare genetic intersection in which autosomal-dominant hereditary hemorrhagic telangiectasia (HHT) and Turner syndrome coexist in a 53-year-old woman. Clinical signs and symptoms included abdominal pain, arteriovenous malformations, and hormonal irregularities. Diagnostic testing revealed Mosaic Turner syndrome and an ENG gene mutation linked to HHT—challenging conventional understanding and prompting exploration of possible shared pathophysiologic mechanisms. The case underscores the necessity of thorough genetic evaluations for patients with overlapping symptoms, offering insights into genetic interactions and personalized treatment approaches. |
| format | Article |
| id | doaj-art-e95f8f70ce5e4c8abd0ddd4a64046050 |
| institution | OA Journals |
| issn | 2767-7664 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-e95f8f70ce5e4c8abd0ddd4a640460502025-08-20T02:12:57ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642025-01-014110.7326/aimcc.2024.0746A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic TelangiectasiaDiego Mateo Cornejo Gonzalez0Imran Naeem Aziz1Shreeya Atul Sawant2Reem Yousef Darwish3Joseph Guan41John H. Stroger Hospital of Cook County, Department of Internal Medicine, Chicago, Illinois1John H. Stroger Hospital of Cook County, Department of Internal Medicine, Chicago, Illinois2Midwestern University, Chicago College of Osteopathic Medicine, Downers Grove, Illinois2Midwestern University, Chicago College of Osteopathic Medicine, Downers Grove, Illinois1John H. Stroger Hospital of Cook County, Department of Internal Medicine, Chicago, IllinoisThis case unveils a rare genetic intersection in which autosomal-dominant hereditary hemorrhagic telangiectasia (HHT) and Turner syndrome coexist in a 53-year-old woman. Clinical signs and symptoms included abdominal pain, arteriovenous malformations, and hormonal irregularities. Diagnostic testing revealed Mosaic Turner syndrome and an ENG gene mutation linked to HHT—challenging conventional understanding and prompting exploration of possible shared pathophysiologic mechanisms. The case underscores the necessity of thorough genetic evaluations for patients with overlapping symptoms, offering insights into genetic interactions and personalized treatment approaches.https://www.acpjournals.org/doi/10.7326/aimcc.2024.0746 |
| spellingShingle | Diego Mateo Cornejo Gonzalez Imran Naeem Aziz Shreeya Atul Sawant Reem Yousef Darwish Joseph Guan A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia Annals of Internal Medicine: Clinical Cases |
| title | A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia |
| title_full | A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia |
| title_fullStr | A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia |
| title_full_unstemmed | A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia |
| title_short | A Rare Intersection: Mosaic Turner Syndrome and Hereditary Hemorrhagic Telangiectasia |
| title_sort | rare intersection mosaic turner syndrome and hereditary hemorrhagic telangiectasia |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2024.0746 |
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