A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report.

IF 0.7 Q3 MEDICINE, GENERAL & INTERNAL Acta medica Indonesiana Pub Date : 2023-10-01
Amanda Trixie Hardigaloeh, Tri Juli Edi Tarigan, Em Yunir, Kanadi Sumapradja, Feranindhya Agiananda, Yulia Ariani, Nanis S Marzuki, Irfan Wahyudi, Lisnawati Lisnawati
{"title":"A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report.","authors":"Amanda Trixie Hardigaloeh, Tri Juli Edi Tarigan, Em Yunir, Kanadi Sumapradja, Feranindhya Agiananda, Yulia Ariani, Nanis S Marzuki, Irfan Wahyudi, Lisnawati Lisnawati","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":6889,"journal":{"name":"Acta medica Indonesiana","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta medica Indonesiana","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

Abstract

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.

分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
一名 19 岁女孩的混合性性腺发育不良伴生殖器发育不明显:病例报告。
一名 19 岁的女孩因青春期延迟和生殖器发育不全而被转诊。她身材矮小,患有高血压和特纳征,外生殖器普拉德评分 4 分。超声波检查显示子宫发育不良,没有性腺。促卵泡激素、黄体生成素和睾酮水平升高(分别为 51.29 mIU/mL、23.66 mIU/mL 和 742 ng/dl)。核型检查显示 46 XY,基于 300 个细胞的荧光原位杂交细胞遗传学研究显示染色体马赛克,单体 X(17%)和 XY(83%)。患者接受了腹腔镜性腺切除术,结果显示睾丸仅位于右侧腹股沟管内。随后,患者进行了外生殖器重建,并接受了雌激素替代治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Acta medica Indonesiana
Acta medica Indonesiana MEDICINE, GENERAL & INTERNAL-
CiteScore
2.30
自引率
0.00%
发文量
61
审稿时长
12 weeks
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
期刊最新文献
Periendoscopic Care Continuum in Acute Cholangitis Caused By Common Bile Duct Stone. Risk Factors and Survival Analysis of COVID-19 Among Health Care Workers in West Jakarta Hospital. Spontaneous Rupture of Abdominal Aorta Pseudoaneurysm: a Case Report. Sustained Response of Ibrutinib in a Patient with Waldenstrom Macroglobulinemia Presenting with Myasthenic Crisis as a Paraneoplastic Neurological Syndrome: A Case Report and Review of Literature. Symptomatic Follicular Lymphoma: Complete Remission After Chemoimmunotherapy with Bendamustine-Rituximab.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1