*Corresponding author:
Nasir AM AL Jurayyan, Department of Pediatric, College of medicine, King Saud University, Saudi ArabiaReceived: November 21, 2018; Published: December 04, 2018
DOI: 10.26717/BJSTR.2018.11.002143
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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|