Amanda Trixie Hardigaloeh, Tri Juli Edi Tarigan, Em Yunir, Kanadi Sumapradja, Feranindhya Agiananda, Yulia Ariani, Nanis S Marzuki, Irfan Wahyudi, Lisnawati Lisnawati
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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 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.
期刊介绍：
Acta Medica Indonesiana – The Indonesian Journal of Internal Medicine is an open accessed online journal and comprehensive peer-reviewed medical journal published by the Indonesian Society of Internal Medicine since 1968. Our main mission is to encourage the novel and important science in the clinical area in internal medicine. We welcome authors for original articles (research), review articles, interesting case reports, special articles, clinical practices, and medical illustrations that focus on the clinical area of internal medicine. Subjects suitable for publication include, but are not limited to the following fields of: -Allergy and immunology -Emergency medicine -Cancer and stem cells -Cardiovascular -Endocrinology and Metabolism -Gastroenterology -Gerontology -Hematology -Hepatology -Tropical and Infectious Disease -Virology -Internal medicine -Psychosomatic -Pulmonology -Rheumatology -Renal and Hypertension -Thyroid
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