AN SRY-POSITIVE 46,XX MALE
Kaur A1,*, Sachdeva K1, Mahajan S1, Virk SPS2, Singh JR1
*Corresponding Author: Dr. Anupam Kaur, Centre for Genetic Disorders, Guru Nanak Dev University, G.T. Road, Amritsar, 143005, India; Tel.: +91-183-2258802 to 2258809, Ext 3446; Fax: +91-183-2258863; E-mail: anupamkaur@yahoo.com
page: 51

Abstract

The 46,XX karyotype in a male is a rare sex chromosomal disorder. It mostly results from unequal crossovers between the X and Y chromosomes during meiosis. We here report a 32-year-old infertile male in whom seminal analysis showed azoospermia. Chromosomal analysis revealed a 46,XX karyotype and fluorescent in situ hybridization (FISH) showed the presence of the SRY gene. This report highlights the value of karyotyping and FISH analysis in cases of infertility.

Key Words: Azoospermia; XX male; Infertile




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