Tags

Type your tag names separated by a space and hit enter

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.
Genet Mol Res. 2013 Oct 24; 12(4):4972-80.GM

Abstract

The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

Authors+Show Affiliations

Center for Reproductive Medicine, Center for Prenatal Diagnosis, First Hospital, Jilin University, Changchun, Jilin Province, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24301758

Citation

Zhang, H-G, et al. "Male Infertility in Northeast China: Molecular Detection of Y Chromosome Microdeletions in Azoospermic Patients With Klinefelter's Syndrome." Genetics and Molecular Research : GMR, vol. 12, no. 4, 2013, pp. 4972-80.
Zhang HG, Zhang ZB, Wang RX, et al. Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. Genet Mol Res. 2013;12(4):4972-80.
Zhang, H. G., Zhang, Z. B., Wang, R. X., Yu, Y., Yu, X. W., Fadlalla, E., & Liu, R. Z. (2013). Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. Genetics and Molecular Research : GMR, 12(4), 4972-80. https://doi.org/10.4238/2013.October.24.9
Zhang HG, et al. Male Infertility in Northeast China: Molecular Detection of Y Chromosome Microdeletions in Azoospermic Patients With Klinefelter's Syndrome. Genet Mol Res. 2013 Oct 24;12(4):4972-80. PubMed PMID: 24301758.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome. AU - Zhang,H-G, AU - Zhang,Z-B, AU - Wang,R-X, AU - Yu,Y, AU - Yu,X-W, AU - Fadlalla,E, AU - Liu,R-Z, Y1 - 2013/10/24/ PY - 2013/12/5/entrez PY - 2013/12/5/pubmed PY - 2015/2/24/medline SP - 4972 EP - 80 JF - Genetics and molecular research : GMR JO - Genet. Mol. Res. VL - 12 IS - 4 N2 - The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes. SN - 1676-5680 UR - https://www.unboundmedicine.com/medline/citation/24301758/Male_infertility_in_Northeast_China:_molecular_detection_of_Y_chromosome_microdeletions_in_azoospermic_patients_with_Klinefelter's_syndrome_ L2 - http://www.geneticsmr.com/articles/2524 DB - PRIME DP - Unbound Medicine ER -