Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome.
In this study, a short stature male with infertility is reported. Semen analysis and serum concentrations of FSH, LH, T and PRL were estimated. Chromosome analysis was performed on lymphocytes obtained from both the male and his parents. Cytogenomic studies were performed by fluorescent in situ hybridisation and the CytoScan(™)  HD array analysis to detect Y chromosomal rearrangements and copy number mutations. Semen analysis showed severe oligozoospermia. Numerous spermatogenic cells were observed in the semen, and approximately 60% of the cells examined in semen were primary spermatocytes, showing spermatogenic arrest at the primary spermatocyte level. Cytogenomic studies of blood revealed his karyotype which was 46,X,i(Y) (p11.32) (Yqter→Yp11.32::Yp11.32→Yqter).ish (DYZ3++, SRY++, SHOX-). array (PLCXD1→SHOX) ×1,(SRY →GOLGA2P3Y)×2, (DHRSX→ ASMT, SPRY3 →IL9R)×3. The rearrangement Y chromosome is de novo. This is the first case reported with a nonmosaic 46,X, i (Y) (p11.32), which will be useful to estimate the infertility phenotype-molecular karyotype correlation. Haploinsufficiency of short stature homeobox-containing gene is primarily responsible for the short stature. Aberrations in pseudoautosomal region 1 on the rearranged Y chromosome may result in the deficiency of X-Y pairing or recombination, ultimately lead to the spermatogenic failure.
Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
Y-X
YX
Cui
W-P
WP
Wang
T-F
TF
Li
W-W
WW
Li
Q-Y
QY
Wu
N
N
Li
C
C
Zhang
Q
Q
Yao
Y-A
YA
Hu
X-Y
XY
Xia
D000328:Adult; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009845:Oligospermia / Q000097:blood / Q000235:genetics*; D011388:Prolactin / Q000097:blood; D013739:Testosterone / Q000097:blood
D013739:Testosterone; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
Infertility; molecular cytogenetics; nonmosaic dicentric Y chromosome; severe oligozoospermia