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:


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:


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.

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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 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