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.
Chen
Xueyan
X
Department of Pathology and Laboratory Medicine, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA.
Raca
Gordana
G
Laffin
Jennifer
J
Babaian
Kara N
KN
Williams
Daniel H
DH
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