DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20160781

Klinefelter’s syndrome in azoospermic infertile males of Vidarbha region, Central India

Gajanan L. Maske, Archana D. Kannamwar

Abstract


Background: Infertility was defined as involuntary failure of conception in a married couple after 1 year of regular unprotected intercourse. Male factor infertility is a distressing condition that adds to the psychological trauma to majority of couples. The widely accepted methods of screening for infertility in males are semen analysis and cytogenetic studies. Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism.

Methods: 30 non-obstructive azoospermic infertile males were selected for present study. For each subject, chromosomal analysis was carried out by conventional as well as giemsa trypsin giemsa (GTG) technique in cytogenetic laboratory. Total 25 metaphases i. e. 15 conventional and 10 G-banded metaphases were analyzed, in each case. In cases with chromosomal abnormalities, total 45 metaphases i. e. 25 conventional and 20 G-banded metaphases were studied. Selected metaphases were photographed using CCD camera.

Results: Three subjects had a chromosomal count of 47 in all the metaphase studied. The additional chromosome was closely matching with the X chromosome. Hence the karyotype showed numerical aberration with an extra ‘X’ chromosome i. e. 47, XXY suggestive of Klinefelter’s syndrome. This was confirmed by G-banding. All of the three subjects had bilateral testicular atrophy and one had typical features of Klinefelter’s syndrome except gynecomastia.

Conclusions: On cytogenetic analysis of 30 azoospermic infertile subjects, chromosomal abnormality of 47, XXY (Klinefelter’s syndrome) was found in 3 subjects.  The total percentage of Klinefelter’s syndrome in present study comes to 10%.

 


Keywords


Azoospermia, Metaphase, Chromosome, Klinefelter syndrome

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References


WHO. Laboratory manual for the examination of human semen and sperm-cervical mucus interaction. IV Edition, Cambridge University Press, UK, 2000.

McElreavey K, Krausz C. Male infertility and Y chromosome. American Jr of Hum Genet. 1999;64:928-33.

De Krester DM. Male infertily. The lancet. 1997,349:787-90.

Hargreave TB. In- The management of male infertility. P. G. Publishing Pte. Ltd. Singapore, 1990,1-5.

Klinefelter HF, Reifenstein EC, Albright. Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab. 1942;2:615-24.

Barr ML, Bertram EG. A morphological distinction between neurons of the male and female, and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949;163(4148):676-7.

Kamischke A, Baumgardt A, Horst J, Nieschlag E. Clinical and Diagnostic Features of Patients with Suspected Klinefelter; Syndrome. Journal of Andrology. 2003;24(1):41-8.

Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183:302-3.

Peter JJ, Vaidya RA, Rege NR, Gokarn VV, Phadke AG, Ambani LM. Cytogenetic abnormalities in male infertility. Indian Journal of Medical Research. 1980;71:225-31.

Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackeiewicz A, Newton M. Cytogenetics and infertility in man. I. Karyotype and seminal analysis. Results of a five-year survey of men attending a sub fertility clinic. Annals of Human Genetics, London. 1975;39(2):231-54.

Ghosh R, Shome D, Chatterjee B, Ghosh PK. Chromosomal abnormalities in infertile males. Indian Journal of Medical Research. 1986;83:408-16.

Tarnekar A, Anbalgan J, ghosh S, Fulzele R, Pal A. Cytogenetic study of azoospermic men. Perspective in cytology and genetics. 2004;11:443-7.

Mohan RM, Mohan RD. Cytogenetic studies in primary infertility. Fertility and Sterility. 1977,28(2):209-10.

Rao L, Basu A, Kanukavallie M, Padmalata V, Singh A, Singh P, et al. Chromosomal abnormalities and Y chromosome microdelation in infertile men with varicocele and idiopathic infertility of south indea origin. Jr of Andrology. 2004;25(1):147-53.

Nagvekar P, Desai K, Hinduja I, Zaveri k. Chromosomal study in infertile men with oligozoospermia and non obstructive azoospermia. Ind Jr Med Res. 2005;122:34-42.

Gunduz G, Luleci G, Baykara M. Cytogenetic study in 102 infertile men. Urologia Internationalis. 1998,61:32-4.

Retief AE, Van Zyl JA, Menkveld R, Fox MF, Brusnicky JK. Chromosome studies in 496 infertile males with a sperm count below 10 millions / ml. Human Genetics. 1984;66:162-4.

Bourrouillou G, Dasgupte N, Colombies P. Chromosome studies in 952 infertile males with a sperm count below 10 million / ml. Human Genetics. 1985;71:366-7.

Faed MJW, Robertson J, Lamont MA, Maclntosh W, Grieve J, Baxby K. A Cytogenetic survey of men being investigated for sub fertility. Journal of Reproduction and fertility. 1979;56:209-16.

Okada H, Fujioka H, Tatsumi N, Kanzaki M, Okuda Y, Fujisawa M, et al. Klinefelter’s syndrome in the male infertility clinic. Human Reproduction. 1999;14:946-52.

Koulischer L, Schoysman R. Chromosomes and human infertilityMI. Mitotic and Meiotic chromosome studies in 202 consecutive male patients. Clinical Genetics. 1974;5:116-26.

Micic M, Micic S, Diklic V. Chromosomal constitution of infertile men. Clinical Genetics. 1984;25:33-6.

Elreavey KM, Krause C, Bishop CE. The human Y chromosome and male infertility. Result and Problem in Cell Differention. 2000;28:211-32.

Carlo F, Enrico M, Alberto F. Y- Chromosome micro deletions and alterations of spermatogenesis. Endocrine Reviews. 2001;22(2):226-39.

Sharpe RM. Life style and environmental contribution to male infertility. British Medical Bulletin. 2000;56(3):630-42.