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

Hardigaloeh, Amanda Trixie and Tarigan, Tri Juli Edi and Yunir, Em and Sumapradja, Kanadi and Agiananda, Feranindhya and Ariani, Yulia and Marzuki, Nanis S and Wahyudi, Irfan and Lisnawati, Lisnawati (2023) A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report. Acta medica Indonesiana, 55 (4). pp. 460-464. ISSN 2338-2732

Full text not available from this repository. (Request a copy)

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.

Item Type: Article
Uncontrolled Keywords: mixed gonadal dysgenesis, ambiguous genitalia
Subjects: Medicine & Biology > Clinical Chemistry
Depositing User: Maria Regina Karunia
Date Deposited: 26 Feb 2026 03:46
Last Modified: 26 Feb 2026 03:46
URI: https://karya.brin.go.id/id/eprint/57756

Actions (login required)

View Item
View Item