Journal of Medical and Scientific Research (Apr 2015)

Management issues in mixed gonadal dysgenesis (45,X/46,XY mosaicism)

  • Babulreddy,
  • Mounika,
  • Rakesh,
  • Ramesh,
  • Nagesh

DOI
https://doi.org/10.17727/jmsr.2015/3-015
Journal volume & issue
Vol. 3, no. 2
pp. 79 – 81

Abstract

Read online

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 16-year-old patient with mixed gonadal dysgenesis (45X/46 XY mosaicism) who was being reared as male, who presented to us with gynaecomastia and the subsequent management issues in such patients.

Keywords