Abstract
Purpose
To detect somatic cytogenetic abnormalities and AZF microdeletions in a sample of 187 Turkish infertile men to determine the frequencies and the characteristics of our primary male infertility data in order to perform appropriate genetic counseling.
Methods
This study included 187 infertile men. Chromosomal studies and screening of AZF deletions was performed by multiplex polymerase chain reaction (PCR) analysis using the Y Chromosome Deletion Detection System.
Results
Cytogenetic study revealed chromosomal abnormality in 9 subjects (4.8%). In remaining 178 subjects, 7 subjects (3.93%) were detected to have Y chromosome microdeletions. The AZFc region was the most frequently involved region in microdeletion process in affected subjects. All subjects having microdeletion were azoospermic
Conclusions
Cytogenetic and molecular study should be performed to obtain reliable genetic information for the genetic counseling of primary infertile man. Y chromosome microdeletion diagnosis is useful in decision making for assisted reproductive technics.
Similar content being viewed by others
References
Krausz C, Quintana-Murci L, McElreavey K. Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Human Reproduction. 2000;15:1431–4.
Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Human Genetics. 1992;89:491–6.
Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of art 2004. International Journal of Andrology. 2004;27:240–9.
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in yq11.1. Human Molecular Genetics. 1996;5:933–44.
Vogt PH. Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Molecular and Cellular Endocrinology. 2004;224:1–9.
Mitelman F. An international system for human cytogenetic nomenclature. Karger, Basel, Switzerland: ISCN; 1995.
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleatedcells. Nucleic Acids Research. 1988;16:1215–6.
(2003). Y chromosome deletion detection system, version 2.0.Technical Manual No. 248. USA, Promega Corporation.
Tuerlings JH, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, et al. Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. European Journal of Human Genetics. 1998;6:194–200.
Gunduz G, Luleci G, Baykara M. Cytogenetic study in 102 infertile men. Urologia Internationalis. 1998;6:32–4.
Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Lessing JB, et al. Genetic evaluation of infertile men. Human Reproduction. 1999;14:33–8.
Rolf C, Gromoll J, Simoni M, et al. Natural transmission of a partial AZF b deletion of the Y chromosome over three generations. Human Reproduction. 2002;17:2267–71.
Foresta C, Moro E, Ferlin AY. Y chromosome microdeletions and alterations of spermatogenesis. Endocrine Reviews. 2001;22:226–39.
Duzcan F, Aybek Z, Tepeli E, Caner V, Cetin GO, Aybek H, et al. Sex chromosome aneuploidy rates in the somatic cells of infertile men. The Journal of Reproductive Medicine. 2006;51:489–92.
Yamamoto Y, Sofikitis N, Mio Y, Loutradis D, Kaponis A, Miyagawa I. Morphometric and cytogenetic characteristics of testicular germ cells and Sertoli cell secretory function in men with non-mosaic Klinefelter’s syndrome. Human Reproduction. 2002;17:886–96.
Pina-Neto JM, Carrara RCV, Bisinella R, Mazzucatto LF, Martins MD, Sartoratto E, et al. Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Brazilian Journal of Medical and Biological Research. 2006;39(4):555–61.
Foresta C, Ferlin A, Garolla A, Rossato M, Barbaux S, De Bortoli A. Y chromosome deletions in idiopathic severe testiculopathies. The Journal of Clinical Endocrinology and Metabolism. 1997;82:1075–80.
Van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, et al. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Molecular Human Reproduction. 1997;3:699–704.
Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, et al. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nature Genetics. 2003;35:247–51.
Vogt PH, Fernandes S. Polymorphic DAZ gene family in polymorphic structure of AZFc locus: artwork or functional for human spermatogenesis? APMIS. 2003;111(1):115–26.
Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. American Journal of Human Genetics. 2004;74:180–7.
Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004;83(6):1046–52.
Okutman-Emonts O, Pehlivan S, Tavmergen E, Tavmergen-Goker EN, Ozkinay F. Screening of Y chromosome microdeletion which contains AZF regions in 71 Turkish azoospermic men. Genetic Counseling. 2004;15(2):199–205.
Silber SJ, Repping S. Transmission of male infertility to future generations: lessons from the Y chromosome. Human Reproduction Update. 2002;8:217–29.
Patsalis PC, Sismani C, Quintana-Murci L, et al. Effects of transmission of Y chromosome AZF c deletions. Lancet. 2002;360:1222–4.
Rajender S, Rajani V, Gupta NJ, Chakravarty B, Singh L, Thangaraj K. SRY-negative 46, XX male with normal genitals, complete masculinization and infertility. Molecular Human Reproduction. 2006;12(5):341–6.
(2006). Report on optimal evaluation of the infertile male. Fertility and Sterility, 86, S202–S209.
de Kretser DM, Burger HG. The Y chromosome and spermatogenesis. The New England Journal of Medicine. 1997;336:576–8.
Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. The Indian Journal of Medical Research. 2008;127(2):124–32.
Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Human Reproduction. 2003;18:1660–5.
Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, et al. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Human Reproduction. 1998;13:2812–5.
McLachlan RI, O'Bryan MK. Clinical review: state of the art for genetic testing of infertile men. Clinics in Endocrinology and Metabolism. 2010;95(3):1013–24.
Author information
Authors and Affiliations
Corresponding author
Additional information
Capsule
Cytogenetic abnormalities and AZF microdeletions have been analyzed to determine the characteristics of regional primary male infertility data in order to perform appropriate genetic counseling.
Rights and permissions
About this article
Cite this article
Akin, H., Onay, H., Turker, E. et al. Primary male infertility in Izmir/Turkey: a cytogenetic and molecular study of 187 infertile Turkish patients. J Assist Reprod Genet 28, 419–423 (2011). https://doi.org/10.1007/s10815-011-9542-8
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10815-011-9542-8