Chromosomal abnormalities in 2 cases of testicular failure.
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.
Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA.
Xueyan
X
Chen
Gordana
G
Raca
Jennifer
J
Laffin
Kara N
KN
Babaian
Daniel H
DH
Williams
D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15; D041322:Chromosomes, Human, Y; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged