A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report
A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testo...
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| Format: | Article |
| Language: | English |
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Interna Publishing
2024-01-01
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| Series: | Acta Medica Indonesiana |
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| Online Access: | http://www.actamedindones.org/index.php/ijim/article/view/2271 |
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| author | Amanda Trixie Hardigaloeh Tri Juli Edi Tarigan Em Yunir Kanadi Sumapradja Feranindhya Agiananda Yulia Ariani Nanis S Marzuki Irfan Wahyudi Lisnawati Lisnawati |
| author_facet | Amanda Trixie Hardigaloeh Tri Juli Edi Tarigan Em Yunir Kanadi Sumapradja Feranindhya Agiananda Yulia Ariani Nanis S Marzuki Irfan Wahyudi Lisnawati Lisnawati |
| author_sort | Amanda Trixie Hardigaloeh |
| collection | DOAJ |
| description | A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.
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| format | Article |
| id | doaj-art-c4c2ba6a37644595ae8c2c0fdd7c7f2a |
| institution | OA Journals |
| issn | 0125-9326 2338-2732 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Interna Publishing |
| record_format | Article |
| series | Acta Medica Indonesiana |
| spelling | doaj-art-c4c2ba6a37644595ae8c2c0fdd7c7f2a2025-08-20T02:37:16ZengInterna PublishingActa Medica Indonesiana0125-93262338-27322024-01-01554A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case ReportAmanda Trixie Hardigaloeh0Tri Juli Edi Tarigan1Em Yunir2Kanadi Sumapradja3Feranindhya Agiananda4Yulia Ariani5Nanis S Marzuki6Irfan Wahyudi7Lisnawati Lisnawati8Division of Endocrinology, Metabolism, and Diabetes, Departement of Internal Medicine, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDivision of Endocrinology, Metabolism, and Diabetes, Departement of Internal Medicine, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDivision of Endocrinology, Metabolism, and Diabetes, Departement of Internal Medicine, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDepartment of Obstetric Gynecologist, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDepartment of Physiciatris, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDepartment of Biology, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaEijkman Institute for Molecular Biology, Jakarta, IndonesiaDepartment of Urologist, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaDepartment of Pathology, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, IndonesiaA 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy. http://www.actamedindones.org/index.php/ijim/article/view/2271mixed gonadal dysgenesisambiguous genitalia |
| spellingShingle | Amanda Trixie Hardigaloeh Tri Juli Edi Tarigan Em Yunir Kanadi Sumapradja Feranindhya Agiananda Yulia Ariani Nanis S Marzuki Irfan Wahyudi Lisnawati Lisnawati A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report Acta Medica Indonesiana mixed gonadal dysgenesis ambiguous genitalia |
| title | A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report |
| title_full | A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report |
| title_fullStr | A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report |
| title_full_unstemmed | A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report |
| title_short | A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report |
| title_sort | mixed gonadal dysgenesis in an 19 year old girl with ambigous genitalia a case report |
| topic | mixed gonadal dysgenesis ambiguous genitalia |
| url | http://www.actamedindones.org/index.php/ijim/article/view/2271 |
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