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

Authors

  • Amanda Trixie Hardigaloeh Division of Endocrinology, Metabolism, and Diabetes, Departement of Internal Medicine, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Tri Juli Edi Tarigan Division of Endocrinology, Metabolism, and Diabetes, Departement of Internal Medicine, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Em Yunir Division of Endocrinology, Metabolism, and Diabetes, Departement of Internal Medicine, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Kanadi Sumapradja Department of Obstetric Gynecologist, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Feranindhya Agiananda Department of Physiciatris, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Yulia Ariani Department of Biology, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Nanis S Marzuki Eijkman Institute for Molecular Biology, Jakarta, Indonesia
  • Irfan Wahyudi Department of Urologist, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia
  • Lisnawati Lisnawati Department of Pathology, Faculty of Medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Keywords:

mixed gonadal dysgenesis, ambiguous genitalia

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.

References

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Published

2024-01-12

How to Cite

Hardigaloeh, A. T., Tarigan, T. J. E., Yunir, E., Sumapradja, K., Agiananda, F., Ariani, Y., Marzuki, N. S., Wahyudi, I., & Lisnawati, L. (2024). A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report. Acta Medica Indonesiana, 55(4), 460. Retrieved from https://www.actamedindones.org/index.php/ijim/article/view/2271

Issue

Vol. 55 No. 4 (2023): Acta Medica Indonesiana

Section

CASE REPORT

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