Chromosomal Abnormalities in 2 Cases of Testicular Failure

• Published in: Journal of andrology Vol. 32; no. 3; pp. 226 - 231
• Main Authors: Chen, Xueyan, Raca, Gordana, Laffin, Jennifer, Babaian, Kara N., Williams, Daniel H.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.05.2011; American Society of Andrology
• Subjects: Adult; AZF regions; Azoospermia - genetics; Biological and medical sciences; Birth control; Chromosome Aberrations; Chromosomes, Human, Pair 15; Chromosomes, Human, Y; Fundamental and applied biological sciences. Psychology; genetic abnormalities; Gynecology. Andrology. Obstetrics; Humans; hypogonadism; Hypogonadism - genetics; In Situ Hybridization, Fluorescence; Infertility, Male - genetics; Karyotyping; Male; Male genital diseases; Male infertility; Mammalian male genital system; Medical sciences; Middle Aged; ring Y chromosomes; Sterility. Assisted procreation; supernumerary marker chromosome; Vertebrates: reproduction; Chromosomal aberration; supernumerary marker chromosome; Aneuploidy; ring Y chromosomes; Testicle; Male genital system; Hypogonadism; Genital diseases; Reproduction; Ring chromosome; Male infertility; genetic abnormalities; Supernumerary chromosome; AZF regions; Abnormal chromosome; Genetics; Male sterility; Male genital diseases
• ISSN: 0196-3635; 1939-4640
• DOI: 10.2164/jandrol.110.010280

This study investigated the underlying chromosomal abnormalities of testicular failure using molecular cytogenetic analysis. We report 2 cases of rare genetic anomalies that resulted in hypogonadism. The first patient presented with severe hypogonadism. Chromosome analysis revealed a mosaic 46,X,r(Y) (p11.3q11.23)/45,X karyotype, with a ring Y chromosome. A Y chromosome microdeletion assay showed a deletion in the azoospermia factor a region. The second patient presented with infertility and nonobstructive azoospermia. Cytogenetic and fluorescent in situ hybridization analysis revealed a 47,XY,+mar.ish i(15) (D15Z1++,SNRPN2,PML2) karyotype, with a small supernumerary chromosome derived from chromosome 15. These results emphasize the need for molecular cytogenetic evaluation in patients with testicular failure before using advanced reproductive techniques.