Case Report
2015 April
Volume : 3 Issue : 2


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

Babulreddy Hanmayyagari, Mounika Guntaka, Rakesh Sahay, Ramesh Jayanthy, Nagesh Sri

Pdf Page Numbers :- 79-81

Babulreddy Hanmayyagari1,*, Mounika Guntaka2, Rakesh Sahay3, Ramesh Jayanthy3 and Nagesh Sri4

 

1Department of Endocrinology, Krishna Institute of Medical Sciences, Kondapur, Hyderabad -500084, India

2Department of Biochemistry, Chalmeda Anand Rao Institute of Medical Sciences, Bommakal, Karimnagar, Telangana 505001, India

3Department of Endocrinology, Osmania general hospital, Hyderabad-500012, India

4Department of Endocrinology, Care Hospital, Banjara hills, Hyderabad, India

 

*Corresponding author: Dr. H. Babul Reddy, Department of Endocrinology, Krishna Institute of Medical Sciences, Kondapur, Hyderabad - 500084, India. Mobile: +91 9985661434; Email: babulreddy78@gmail.com

 

Received 2 February 2015; Revised 17 March 2015; Accepted 24 March 2015; Published 31 March 2015

 

Citation: Babulreddy H, Mounika G, Rakesh S, Ramesh J, Nagesh S. Management issues in mixed gonadal dysgenesis (45,X/46,XY mosaicism). J Med Sci Res. 2015; 3(2):79-81. DOI: http://dx.doi.org/10.17727/JMSR.2015/3-015

 

Copyright: © 2015 Babulreddy H, et al. Published by KIMS Foundation and Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

View Full Text | 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 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: disorders of sex development (DSD); Gynaecomastia; testicular biopsy; 45X/46 XY mosaicism

Subscription