info@biomedres.us   +1 (502) 904-2126   One Westbrook Corporate Center, Suite 300, Westchester, IL 60154, USA   Site Map
ISSN: 2574 -1241

Impact Factor : 0.548

  Submit Manuscript

Case ReportOpen Access

A Rare Case of Mixed Gonadal Dysgenesis

Volume 11 - Issue 4

Doua K H Al homyani1, Sharifa Al Eissa2, Rushaid NA AL Jurayyan3, Nasir AM AL Jurayyan*4 and Abdulrahman A Al Bassam5

  • Author Information Open or Close
    • 1Department of pediatric, College of medicine, King Saud University, Saudi Arabia
    • 2Department of pediatric, College of medicine, King Saud University, Saudi Arabia
    • 3Radiology and medical imeging department, college of medicine, King Saud University, Saudi Arabia
    • 4Professor and senior consultant pediatric endocrinologist, College of medicine, King Saud University, Saudi Arabia
    • 5Department of Surgery, College of Medicine, King Saud University, Saudi Arabia
    • *Corresponding author: Nasir AM AL Jurayyan, Department of Pediatric, College of medicine, King Saud University, Saudi Arabia

Received: November 21, 2018;   Published: December 04, 2018

DOI: 10.26717/BJSTR.2018.11.002143

Full Text PDF

To view the Full Article   Peer-reviewed Article PDF

Abstract

Mixed gonadal dysgenesis (45X/46XY and its variants) is a form of sex chromosome DSD (disorders of sex development). The clinical presentation of such patients is highly variable and mild variants may go unnoticed. Here we discuss a 13-year-old patient with mixed gonadal dysgenesis (45X/46 XY mosaicism) who was being reared as female, presented to us with virilizing symptoms and signs. The management issues in such patients were discussed.

Keywords : Mixed Gonadal Dysgenesis; Variant; Disorder of Sex Development

Abbreviations : DSD: Disorders of Sex Development; FISH: Fluorescence in Situ Hybridization; HCG: Human Chorionic Gonadotropin; MGD: Mixed Gonadal Dysgenesis; CIS: Carcinoma in Situ

Introduction| Case Reports| Discussion| Conclusion| Acknowledgement| References|