Title: Cytogenetic Study in Couples with Primary Infertility
Authors: Dr Rakhi More, Dr Shabana Borate, Dr S.D.Gangane
DOI: http://dx.doi.org/10.18535/jmscr/v4i1.26
Fertility denotes the ability of a man and woman to reproduce. Conversely, infertility denotes lack of fertility, an involuntary reduction in the ability to produce children. A total of thirty three couples were studied in an attempt to find out the cytogenetic causes in primary infertility. The couples were assessed for other contributory factors like age, consanguinity, anatomical abnormalities, hormonal causes or any other medical causes. Cytogenetic analysis of the infertile couples revealed that chromosomal abnormalities were present in one of the partner in 36.36% of couples. Chromosomal abnormalities were found in 24.24% females and 12.12% males. Among the chromosomal abnormalities, numerical abnormalities were present in 18.18% couples and structural abnormalities were present in 12.12% couples. Most common among the numerical abnormalities was 47, XXY i.e 3 cases, mosaicism was seen in 3 cases (2 females and 1 male). 46, XY karyotype was found in two phenotypic females with primary infertility. Structural abnormalities were present in 12.12% of female patients. Keywords- Primary infertility, chromosomal aberrations, karyotyping, numerical abnormalities, structural abnormalities. 1. Jeffcoate’s – Principles of Gynecology, 5th edition, pg 635-660,1986. 2. Novak’s Gynaecology, 13th edition pg 973-1107. 3. WHO: Challenges in reproductive health research: Biennial report 1992-1993, Geneva, WHO(1994). 4. Rao A. Kamini, “The Infertility Manual” 2nd edition, pg 42-53,126-131 and 528-535. 5. Gorduza EV, Stoica O, Covic M. The importance of genetic factors in pathogenesis of central infertility( hypothalamic and pituitary) Rev Med Chir Soc Med Nat lsi. 2003;107:28-34.[Pubmed] 6. Chandely AC. Chromosome anomalies and Y- chromosome microdeletions as casual factors in male infertility. Hum Reprod.1998;13(Suppl):45-50 .[Pubmed] 7. Azimi C, Khaleghian M, Farzanfar F. Cytogenetic studies among Iranian infertile men: The first long term report of 20 yr. Afr J Biothecnol. 2012; 11: 8973-8978. 8. Petterson F,Fries H, Nillus SJ.Epidemiology of secondry amenorrhoea. Incidence and prevalence rates.Am J Obstet Gynecol. 1973;117:80-86 [Pubmed]. 9. Bachmann G, Kemmann E. Prevalance of oligomenorrhoea and amenorrhoea in a college population. Am J Obstet Gynecol. 1982;144:98-102 .[Pubmed] 10. Krausz C, Quintana –Murci L and Mc Elreavey K : Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum Reprod. 15: 1431-1434.2000. 11. Vogt P, Chandley AC, Hargreave TB, Keil R, Ma K and Sharkey A: Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet. 89: 491-496.1992. 12. Lian Z, Zack MM, Erickson JD: Paternal age and the occurrence of birth defects, Am J Hum Genet, 39: 648, 1986. 13. an Z, Zack MM, Erickson JD; Paternal age and the occurrence birth defects, Am J Hum Genet 39:648,1986. 14. Harper PS. Practical Genetic Counselling, 6th Ed. London: Arnold. 2004: 70-72. 15. Duzcan F, Atmaca M, Cetin G and Bagci H, Cytogenetic studies in patients with reproductive failure, Acta Obstet Gynecol Scand, 82;53-56,2003. 16. Quilter CR, Svennevik EC, Serhal P, Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males. Fertility and Sterility, vol 79, 2: 301-307,2003. 17. Kjessler B, Chromosomal constitution and male reproductive failure.In Mancini RE, Martini (eds). Male Fertility and Sterility Academic Press, New York, pg 231-47.Abstract
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