Clinical and cytogenomic studies in a case of infertility associated with a nonmosaic dicentric Y chromosome

• Published in: Andrologia Vol. 47; no. 4; pp. 477 - 481
• Main Authors: Cui, Y.‐X., Wang, W.‐P., Li, T.‐F., Li, W.‐W., Wu, Q.‐Y., Li, N., Zhang, C., Yao, Q., Hu, Y.‐A., Xia, X.‐Y.
• Format: Journal Article
• Language: English
• Published: Germany Wiley Subscription Services, Inc 01-05-2015
• Subjects: Adult; Chromosome Aberrations; Chromosomes, Human, Y; Follicle Stimulating Hormone - blood; Humans; Infertility; Infertility, Male - blood; Infertility, Male - genetics; Luteinizing Hormone - blood; Male; molecular cytogenetics; nonmosaic dicentric Y chromosome; Oligospermia - blood; Oligospermia - genetics; Prolactin - blood; severe oligozoospermia; Testosterone - blood; molecular cytogenetics; nonmosaic dicentric Y chromosome; Infertility; severe oligozoospermia
• ISSN: 0303-4569; 1439-0272
• DOI: 10.1111/and.12278

Summary
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.