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

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.

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分钟内获得全文求助全文

来源期刊

Acta medica Indonesiana MEDICINE, GENERAL & INTERNAL-

CiteScore

2.30

自引率

0.00%

发文量

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