Bevezetés: A fejlett országokban az infertilitás gyakorisága 10–15%. Az esetek felének hátterében genetikai eltérés állhat. Cél: Az infertilitáshoz vezető genetikai eltérések kimutatása hazai populációban. Módszerek: 195 infertilis nő és 305 infertilis férfi citogenetikai, 17 nő FMR1 gén, 150 férfi Y-kromoszóma-microdeletio-vizsgálatát, 28 esetben a spermiumok számbeli kromoszómaaberrációinak meghatározását végeztük. Egy kiegyensúlyozott transzlokációt hordozó esetében tanulmányoztuk a spermiumkromoszómák szegregációját. Eredmények: Nőkben a leggyakoribb kromoszómaeltérés az X-kromoszóma aneuploidia és a 9-es kromoszóma inverziója (3,6%), férfiakban a Klinefelter-szindróma (3,3%) és az autoszómák transzlokációja (2%) volt. Két nőben az FMR1 gén premutációját igazoltuk. Infertilis férfiakban Y-kromoszóma-microdeletiót csak azoospermiás és súlyos oligozoospermiás esetekben találtunk, parciális microdeletio normozoospermiásokban is megfigyelhető volt. Gyakoribb volt a kromoszómaaberráció, ha a spermiumszám és -mozgás egyaránt kóros volt. Egy 46,XY,t(3;6)(q21;q23) férfi spermiumainak 53,2%-a hordozott kiegyensúlyozatlan kromoszómakészletet. Következtetések: A genetikai eltérés ismerete segít a genetikai tanácsadásban, az utód kockázatának megítélésében és az asszisztált reprodukció legcélravezetőbb módjának kiválasztásában. Orv. Hetil., 2013, 154, 52–61.
Krausz, C.: Male infertility: pathogenesis and clinical diagnosis. Best Pract. Res. Clin. Endocrinol. Metab., 2011, 25, 271–285.
Krausz C. , 'Male infertility: pathogenesis and clinical diagnosis ' (2011 ) 25 Best Pract. Res. Clin. Endocrinol. Metab. : 271 -285 .
ESHRE Capri Workshop Group: Diagnosis and management of the infertile couple: missing information. Hum. Reprod. Update, 2004, 10, 295–307.
'Diagnosis and management of the infertile couple: missing information ' (2004 ) 10 Hum. Reprod. Update : 295 -307 .
Foresta, C., Ferlin, A., Gianaroli, L., et al.: Guidelines for the appropriate use of genetic tests in infertile couples. Eur. J. Hum. Genet., 2002, 10, 303–312.
Gianaroli L. , 'Guidelines for the appropriate use of genetic tests in infertile couples ' (2002 ) 10 Eur. J. Hum. Genet. : 303 -312 .
Laml, T., Preyer, O., Umek, W., et al.: Genetic disorders in premature ovarian failure. Hum. Reprod. Update, 2002, 8, 483–491.
Umek W. , 'Genetic disorders in premature ovarian failure ' (2002 ) 8 Hum. Reprod. Update : 483 -491 .
Shelling, A. N.: Premature ovarian failure. Reproduction, 2010, 140, 633–641.
Shelling A. N. , 'Premature ovarian failure ' (2010 ) 140 Reproduction : 633 -641 .
Filipovic-Sadic, S., Sah, S., Chen, L., et al.: A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin. Chem., 2010, 56, 399–408.
Chen L. , 'A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome ' (2010 ) 56 Clin. Chem. : 399 -408 .
Krausz, C., Rajpert-De Meyts, E., Frydelund-Larsen, L., et al.: Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. J. Clin. Endocrinol. Metab., 2001, 86, 2638–2642.
Frydelund-Larsen L. , 'Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure ' (2001 ) 86 J. Clin. Endocrinol. Metab. : 2638 -2642 .
Simoni, M., Bakker, E., Krausz, C.: EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int. J. Androl., 2004, 27, 240–249.
Krausz C. , 'EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004 ' (2004 ) 27 Int. J. Androl. : 240 -249 .
Giachini, C., Guarducci, E., Longepied, G., et al.: The gr/gr deletion(s): a new genetic test in male infertility? J. Med. Genet., 2005, 42, 497–502.
Longepied G. , 'The gr/gr deletion(s): a new genetic test in male infertility? ' (2005 ) 42 J. Med. Genet. : 497 -502 .
Repping, S., Skaletsky, H., Brown, L., et al.: Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat. Genet., 2003, 35, 247–251.
Brown L. , 'Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection ' (2003 ) 35 Nat. Genet. : 247 -251 .
Patsalis, P. C., Sismani, C., Quintana-Murci, L., et al.: Effects of transmission of Y chromosome AZFc deletions. Lancet, 2002, 360, 1222–1224.
Quintana-Murci L. , 'Effects of transmission of Y chromosome AZFc deletions ' (2002 ) 360 Lancet : 1222 -1224 .
WHO laboratory manual for the examination and processing of human semen. World Health Organization, 2010, 5, 271.
Shaffer, L. G., Tommerup, N.: ISCN 2009: An International System for Human Cytogenetic Nomenclature. S. Karger, Basel, 2009.
Tommerup N. , '', in ISCN 2009: An International System for Human Cytogenetic Nomenclature , (2009 ) -.
Downie, S. E., Flaherty, S. P., Matthews, C. D.: Detection of chromosomes and estimation of aneuploidy in human spermatozoa using fluorescence in-situ hybridization. Mol. Hum. Reprod., 1997, 3, 585–598.
Matthews C. D. , 'Detection of chromosomes and estimation of aneuploidy in human spermatozoa using fluorescence in-situ hybridization ' (1997 ) 3 Mol. Hum. Reprod. : 585 -598 .
Egozcue, J., Blanco, J., Vidal, F.: Chromosome studies in human sperm nuclei using fluorescence in-situ hybridization (FISH). Hum. Reprod. Update, 1997, 3, 441–452.
Vidal F. , 'Chromosome studies in human sperm nuclei using fluorescence in-situ hybridization (FISH) ' (1997 ) 3 Hum. Reprod. Update : 441 -452 .
Bellovits, O., Rusz, A., Romics, I., et al.: Chromosomal disorders in the background of azoospermia. [Az azoospermia hátterében meghúzódó kromoszómaelváltozások.] Orv. Hetil., 2006, 147, 531–535. [Hungarian]
Romics I. , 'Chromosomal disorders in the background of azoospermia. [Az azoospermia hátterében meghúzódó kromoszómaelváltozások.] ' (2006 ) 147 Orv. Hetil. : 531 -535 .
Giachini, C., Laface, I., Guarducci, E., et al.: Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum. Genet., 2008, 124, 399–410.
Guarducci E. , 'Partial AZFc deletions and duplications: clinical correlates in the Italian population ' (2008 ) 124 Hum. Genet. : 399 -410 .
Navarro-Costa, P., Gonçalves, J., Plancha, C. E.: The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum. Reprod. Update, 2010, 16, 525–542.
Plancha C. E. , 'The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility ' (2010 ) 16 Hum. Reprod. Update : 525 -542 .
Vegetti, W., Van Assche, E., Frias, A., et al.: Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men. Hum. Reprod., 2000, 15, 351–365.
Frias A. , 'Correlation between semen parameters and sperm aneuploidy rates investigated by fluorescence in-situ hybridization in infertile men ' (2000 ) 15 Hum. Reprod. : 351 -365 .
Martin, R. H., Rademaker, A. W., Greene, C., et al.: A comparison of the frequency of sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia. Biol. Reprod., 2003, 69, 535–539.
Greene C. , 'A comparison of the frequency of sperm chromosome abnormalities in men with mild, moderate, and severe oligozoospermia ' (2003 ) 69 Biol. Reprod. : 535 -539 .
Miharu, N.: Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: oligozoospermia. Cytogenet. Genome Res., 2005, 111, 347–351.
Miharu N. , 'Chromosome abnormalities in sperm from infertile men with normal somatic karyotypes: oligozoospermia ' (2005 ) 111 Cytogenet. Genome Res. : 347 -351 .
Jakab, A., Kovacs, T., Zavaczki, Z., et al.: Efficacy of the swim-up method in eliminating sperm with diminished maturity and aneuploidy. Hum. Reprod., 2003, 18, 1481–1488.
Zavaczki Z. , 'Efficacy of the swim-up method in eliminating sperm with diminished maturity and aneuploidy ' (2003 ) 18 Hum. Reprod. : 1481 -1488 .
Jakab, A. jr., Kovács, T., Kovanci, E., et al.: Numerical chromosome anomalies in human sperm at low sperm concentration. [Számbeli kromoszómaeltérések humán spermiumban alacsony spermiumkoncentráció esetén.] Orv. Hetil., 2003, 27, 1473–1480. [Hungarian]
Kovanci E. , 'Numerical chromosome anomalies in human sperm at low sperm concentration. [Számbeli kromoszómaeltérések humán spermiumban alacsony spermiumkoncentráció esetén.] ' (2003 ) 27 Orv. Hetil. : 1473 -1480 .
Huszar, G., Vigue, L.: Incomplete development of human spermatozoa is associated with increased creatine phosphokinase concentration and abnormal head morphology. Mol. Reprod. Dev., 1993, 34, 292–298.
Vigue L. , 'Incomplete development of human spermatozoa is associated with increased creatine phosphokinase concentration and abnormal head morphology ' (1993 ) 34 Mol. Reprod. Dev. : 292 -298 .
Shi, Q., Martin, R. H.: Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction, 2001, 121, 655–666.
Martin R. H. , 'Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men ' (2001 ) 121 Reproduction : 655 -666 .
Bonduelle, M., Aytoz, A., Van Assche, E., et al.: Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection. Hum. Reprod., 1998, 13, 781–782.
Assche E. , 'Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection ' (1998 ) 13 Hum. Reprod. : 781 -782 .
In’t Veld, P. A., Broekmans, F. J., de France, H. F., et al.: Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa. Hum. Reprod., 1997, 12, 752–754.
France H. F. , 'Intracytoplasmic sperm injection (ICSI) and chromosomally abnormal spermatozoa ' (1997 ) 12 Hum. Reprod. : 752 -754 .
Morel, F., Douet-Guilbert, N., Le Bris, M. J., et al.: Meiotic segregation of translocations during male gametogenesis. Int. J. Androl., 2004, 27, 200–212.
Bris M. J. , 'Meiotic segregation of translocations during male gametogenesis ' (2004 ) 27 Int. J. Androl. : 200 -212 .
Perrin, A., Morel, F., Douet-Guilbert, N., et al.: A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisation. Andrologia, 2010, 42, 27–34.
Douet-Guilbert N. , 'A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisation ' (2010 ) 42 Andrologia : 27 -34 .
Mokánszki, A., Ujfalusi, A., Balogh, E., et al.: Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH). Syst. Biol. Reprod. Med., 2012, 58, 160–164.
Balogh E. , 'Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH) ' (2012 ) 58 Syst. Biol. Reprod. Med. : 160 -164 .
Rajender, S., Avery, K., Agarwal, A.: Epigenetics, spermatogenesis and male infertility. Mutat. Res., 2011, 727, 62–71.
Agarwal A. , 'Epigenetics, spermatogenesis and male infertility ' (2011 ) 727 Mutat. Res. : 62 -71 .