İNFERTİL ERKEKLERDE KROMOZOMAL ANOMALİ VE POLİMORFİZM SONUÇLARI: RETROSPEKTİF BİR ÇALIŞMA

Year 2015, Volume: 19 Issue: 1, 33 - 40, 01.03.2015

Gülüzar Arzu Turan Esra Bahar Gür Fatma Eskicioğlu Betül Uğuz İşın Sözer Şaban Adakan Musa Saraçoğlu İşın Kaya

Abstract

Reprodüktif çağdaki evli çiftlerin % 15’ inde infertilite çok önemli bir problemdir. İnfertilite %30-50 oranında erkek faktörüne bağlıdır. İnfertil erkek hastalarda kromozom anomalisi görülme oranı ortalama %5’tir. Bu oran azospermisi ya da ciddi oligospermisi olan hastalarda %14’ün üzerindedir. Bu hastalarda en sık seks kromozomlarının anomalilerine rastlanılmaktadır. Klinefelter sendromu en sık rastlanan seks kromozom bozukluğudur. Kromozom analizlerinde saptanan kromozomal polimorfizmler normal karyotipik varyasyonlar olarak kabul edilmektedir ve bu kromozomal polimorfizmlerin infertilite ile ilgisi olabileceğine ilişkin çalışmalar mevcuttur. En sık 1, 9, 16, Y ayrıca 13, 14, 15, 21, 22 numaralı kromozomlara ait polimorfizmlere rastlanılmaktadır. Çalışma grubumuz infertilite problemi olan 151 erkek hastadan oluşmuştur. Tüm olguların sitogenetik analizi sonucunda 105 olguda normal kromozom kuruluşu, 33 olguda kromozomal anomali ve 13 olguda farklı kromozomal polimorfizmler saptanmıştır

Keywords

İnfertilite, kromozomal anomali, polimorfizm

RESULTS OF CHROMOSOMAL ABNORMALITIES AND POLIMORPHISMS IN INFERTILE MEN: A RETROSPECTIVE STUDY

Abstract

Infertility is a significant problem, affecting up to 15% of married couples of reproductive age. 30–50% of infertility is caused by a male factor. The incidence of chromosomal abnormalities in infertile men is 5% as average. This rate is higher than 14% for the patients with azoospermia or severe oligospermia.The sex chromosome abnormalities are the most common abnormalities in these patients. Klinefelter syndrome is the most frequent sex chromosome abnormality. Chromosomal polymorphisms that determined in chromosomal analysis are considered as normal karyotypic variants and there are studies on chromosomal polymorphisms might be associated with infertility. The most frequently, chromosomal polymorphisms are belong to 1, 9, 16, Y and also 13, 14, 15, 21, chromosomes. Our study group has consisted of 151 infertile male patients. Normal karyotype, chromosomal abnormality and different chromosomal polymorphisms have been determined in 105, 33 and 13 cases respectively as the result of cytogenetic analysis on all cases

Keywords

İnfertility, chrosomal abnormality, polymorphism

References

• ) Shah K, Sivapalan G, Gibbons N, Tempest H, Griffin DK. The genetic basis of infertility. Reproduction ; 126(1): 13–25. ) Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reproductive Toxicology 2006; 22(2): 41.
• ) Assche EV, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Human Reproduction Volume 1996;11 (Suppl 4): 24.
• ) Martin RH. Cytogenetic determinants of male fertility. Human Reproduction Update 2008; 14(4): 90.
• ) Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, et al. Chrosomal variants among 1790 infertile men. International Journal of Urology 2001; 8(2): 49-52.
• ) Drugkar AZ, Gangane SD, More RM, Drugkar SA. Cytogenetic study in male infertility. IOSR Journal of Dental and Medical Sciences 2013; 5(2): 5-11.
• ) Akgul M, Ozkinay F, Ercal D, Cogulu O, Dogan O, Altay B, et al. Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review. J Assist Reprod Genet 2009; 26(2- ):119–22.
• ) Mierla D, Stoian V. Chromosomal polymorphisms involved in reproductive failure in the Romanian population. BJMG 2012; 15(2): 23-8.
• ) Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali- Franchi P, Tiboni GM. Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Human Reproduction ; 20(2): 437–42.
• ) Yoshida A, Miura K, Shirai M. Cytogenetic survey of 1,007 infertile males. Urol Int 1997; 58(3): 166-76.
• ) Şamlı H, Solak M, İmirzalioğlu N, Şamlı M. Nonobstruktif azoospermik ve şiddetli oligozoospermik erkeklerde saptanan kromozomal anomaliler. The Medical Journal of Kocatepe 2005;(6): 7-11.
• ) Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK. Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Andrologia 2007; 39(3): 87
• ) Etem EÖ, Yüce H, Erol D, Deveci ŞD, Ceylan GG, Elyas H. Sperm anomolisi gösteren erkeklerde sitogenetik analizler. Marmara Medical Journal 2009; (3); 217-24.
• ) Sreenivasa G, Malini SS, Kumari P, Dutta UR. Cytogenetic abnormalities in 200 male infertile cases in the southern region of India. Open Journal of Genetics 2013; 3: 33-7.
• ) Rubes J, Vozdova M, Robbins WA, Rezacova O, Perreault SD, Wyrobek AJ. Stable Variants of Sperm Aneuploidy among Healthy Men Show Associations between Germinal and Somatic Aneuploidy. Am. J. Hum. Genet 2002;70(6): 1507–19.
• ) Doğanay S, Sözmen K, Kalaça S, Ünal B. Türkiye Halk Sağlığı Dergisi 2012;10(2): 93-115.
• ) Tuerlings JHAM, France HF, Hamers A, Hordijk R, Hemel JOV, Hansson K, et al. Chromosome studies in males prior to intra-cytoplasmic sperm injection: the Dutch experience. European Journal of Human Genetics 1998; 6(3):194–200.
• ) Hong Y, Zhou YW, Tao J, Wang SX, Zhao XM. Do polymorphic variants of chromosomes affect the outcome of in vitro fertilization and embryo transfer treatment?. Human Reproduction 2011;26(4):1–8.
• ) Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a signifi cant role in infertility. Reproductive BioMedicine Online ; 11(6): 726–32. ) Caglayan AO, Isilay O, Demiryilmaz F, Dundar M. Cytogenetic results of patients with infertility in middle Anatolia, Turkey: Do heterochromatin polymorphisms affect fertility?. J Reprod Infertil 2010; 11(3): 179-81.
• ) Ceylan GG, Ceylan C, Elyas H. Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Genet Mol Res 2009; 8(3): 915-22.
• ) Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligozoospermia non-obstructive azoospermia. Indian J Med Res 2005;12281): 34-42.
• ) Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher MR, Arango O, et al. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Human Reproduction ; 21(6): 1490-7.
• ) Judis LA, Chan ER, Schwartz S, Seftel A, Hassold T. Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex. Fertility and Sterility ; 81(1): 205-9.