Yıl 2019, Cilt 11 , Sayı 1, Sayfalar 17 - 25 2019-06-27

Klinefelter’s syndrome and social handicaps in Southeast of Turkey.

Diclehan Oral [1] , Selda Şimşek [2] , Ayşegül Türkyılmaz [3] , İlyas Yücel [4] , Selahattin Tekes [5] , Mahmut Balkan [6]


The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births
In this study we aimed to evaluate the postnatally screened karyotype results in man who were referred diagnosis of Klinefelter syndrome between 1998 and 2010 in the city of Diyarbakir, Southeast Turkey.High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done males diagnosis of Klinefelter syndrome . A total of 552 cases were evaluated retrospectively.One hundred twenty out of 552 (21.74%) cases showed of Klinefelter syndrome.Genetic counseling was provided for the cases that received Klinefelter syndrome results. The rate of gonosomal chromosomal abnormalities was social problem in our region. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems.

Chromosomal abnormality, Male infertility
  • 1- Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Meta(1942) b.;2:615–627.
  • 2 - Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex determining mechanism. Nature (1959).;2:164–167.
  • 3- Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arthus, Denmark. In: Evans JA, Hamerton JL, editor. Children and Young Adults with Sex Chromosome Aneuploidy Birth Defects: Original Article Series. Vol. 26. New York: Wiley-Liss, for the March of Dimes Birth Defects Foundation; (1991). pp. 209–223.
  • 4- Graham JM, Jr, Bashir AS, Stark RE, Silbert A, Walzer S. Oral and written language abilities of XXY boys: implications for anticipatory guidance. Pediatrics. (1988 ).;81:795–806.
  • 5- Smyth CM, Bremner WJ. . Klinefelter syndrome. Arch Intern Med; (1998)158:1309–1314. doi: 10.1001/archinte.158.12.1309.
  • 6- Nielsen JKlinefelter’s syndrome and the XXY syndrome. A genetical, endocrinological and psychiatric-psychological study of thirty-three severely hypogonadal male patients and two patients with karyotype 47, XYY. Acta Psychiatr Scand Suppl. .(1969) ;209:1–353.
  • 7- Netley C, Rovet J. Verbal deficits in children with 47, XXY and 47, XXX karyotypes: A descriptive and experimental study. Brain Lang. (1982) 17(1):58–72
  • 8- Theilgaard APsychologic study of XYY and XXY men. Birth Defects Orig Artic Ser. .(1986) 22(3):277–292.
  • 9- Bender BG, Linden MG, Harmon RJNeuropsychological and functional cognitive skills of 35 unselected adults with sex chromosome abnormalities. Am J Med Genet. .(2001) 102(4):309–313
  • 10- Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, Gonzalo IG, Haddal A, Rankin K, Lu P, Paul L. Neuropsychological profiles of adults with Klinefelter syndrome. J Int Neuropsychol Soc. (2001) ;7(4):446–456.
  • 11- Fales CL, Knowlton BJ, Holyoak KJ, Geschwind DH, Swerdloff RS, Gonzalo IG. Working memory and relational reasoning in Klinefelter syndrome. J Int Neuropsychol Soc. 2003;9(6):839–846.
  • 12- Bender BG, Puck MH, Salbenblatt JA, Robinson ADyslexia in 47, XXY boys identified at birth. Behav Genet. .(1986 ) ;16(3):343–354.
  • 13- Temple CM, Sanfilippo PM. Executive skills in Klinefelter’s syndrome. Neuropsychologia. (2003) 41(11):1547–1559
  • 14- De Lisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ Schizophrenia and sex chromosome anomalies. Schizophr Bull. (1994);20(3):495–505.
  • 15- De Lisi LE, Maurizio AM, Svetina C, Ardekani B, Szulc K, Nierenberg J, Leonard J, Harvey PD, et al. Klinefelter’s syndrome (XXY) as a genetic model for psychotic disorders. Am J Med Genet Part B Neuropsychiatr Genet. (2005) ;135B(1):15–23.
  • 16- Chiang HS, Wei HJ, Chen YT. Genetic screening for cases with azoospermia and severe oligo-asthenospermia. Int J Androl(2000) 23:20–5. doi:10.1046/j.1365-2605.2000.00006.
  • 17- Lissitsina J, Mikelsaar R, Punab MCytogenetic Analyses in Infertile Men. Arch Androl.(2006) ;52:91–5. doi:10.1080/01485010500316030
  • 18- Chandley AC, Christie S, Fletcher J, Frackiewicz A, Jacobs PA. Translocation heterozygosity and associated subfertility in man. Cytogenetics. (1972);11:516–33.
  • 19- De Kretser DM, Burger HG, Fortune D, Hudson B, Long AR, Paulsen CA, et al. Hormonal, histological and chromosomal studies in adult males with testicular disorders. J Clin Endocrinol Metab. (1972) 35:392–401.
  • 20- Pandiyan N, Jequier AM. Mitotic chromosomal abnormalities among 1210 infertile men. Hum Reprod. 1996;11:2604–8.
  • 21- Yoshida A, Miura K, Shirai MChromosome abnormalities and male infertility. Assist Reprod Rev .(1996) ;6:93–100.
  • 22- Lee YS, Cheng AW, Ahmed SF, Shaw NJ, Hughes IA. Genital Anomalies in Klinefelter’s Syndrome. Horm Res 2007;68:150–5. doi:10.1159/000106375
  • 23- Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol ;22:133–41. doi:10.1016/j.reprotox.2006.04.016
  • 24- Wahrman J, Atidia J, Goitein R, Cohen T. Pericentric inversions of chromosome 9 in two families. Cytogenetics (1972);11:132–44. doi:10.1159/000130182.
Birincil Dil en
Konular Genel ve Dahili Tıp
Bölüm Araştırma
Yazarlar

Orcid: 0000-0002-0074-0602
Yazar: Diclehan Oral (Sorumlu Yazar)

Orcid: 0000-0002-1585-7379
Yazar: Selda Şimşek

Orcid: 0000-0002-0995-8704
Yazar: Ayşegül Türkyılmaz

Orcid: 0000-0002-4446-0469
Yazar: İlyas Yücel

Orcid: 0000-0002-4446-0469
Yazar: Selahattin Tekes

Orcid: 0000-0002-4446-0469
Yazar: Mahmut Balkan

Tarihler

Yayımlanma Tarihi : 27 Haziran 2019

Bibtex @araştırma makalesi { iamr611722, journal = {International Archives of Medical Research}, issn = {2146-6033}, address = {Dicle Üniversitesi Tıp Fakültesi Histoloji ve Embriyoloji AD, 21280, Diyarbakır-Türkiye}, publisher = {Veysi AKPOLAT}, year = {2019}, volume = {11}, pages = {17 - 25}, doi = {}, title = {Klinefelter’s syndrome and social handicaps in Southeast of Turkey.}, key = {cite}, author = {Oral, Diclehan and Şimşek, Selda and Türkyılmaz, Ayşegül and Yücel, İlyas and Tekes, Selahattin and Balkan, Mahmut} }
APA Oral, D , Şimşek, S , Türkyılmaz, A , Yücel, İ , Tekes, S , Balkan, M . (2019). Klinefelter’s syndrome and social handicaps in Southeast of Turkey.. International Archives of Medical Research , 11 (1) , 17-25 . Retrieved from https://dergipark.org.tr/tr/pub/iamr/issue/48314/611722
MLA Oral, D , Şimşek, S , Türkyılmaz, A , Yücel, İ , Tekes, S , Balkan, M . "Klinefelter’s syndrome and social handicaps in Southeast of Turkey.". International Archives of Medical Research 11 (2019 ): 17-25 <https://dergipark.org.tr/tr/pub/iamr/issue/48314/611722>
Chicago Oral, D , Şimşek, S , Türkyılmaz, A , Yücel, İ , Tekes, S , Balkan, M . "Klinefelter’s syndrome and social handicaps in Southeast of Turkey.". International Archives of Medical Research 11 (2019 ): 17-25
RIS TY - JOUR T1 - Klinefelter’s syndrome and social handicaps in Southeast of Turkey. AU - Diclehan Oral , Selda Şimşek , Ayşegül Türkyılmaz , İlyas Yücel , Selahattin Tekes , Mahmut Balkan Y1 - 2019 PY - 2019 N1 - DO - T2 - International Archives of Medical Research JF - Journal JO - JOR SP - 17 EP - 25 VL - 11 IS - 1 SN - 2146-6033- M3 - UR - Y2 - 2019 ER -
EndNote %0 International Archives of Medical Research Klinefelter’s syndrome and social handicaps in Southeast of Turkey. %A Diclehan Oral , Selda Şimşek , Ayşegül Türkyılmaz , İlyas Yücel , Selahattin Tekes , Mahmut Balkan %T Klinefelter’s syndrome and social handicaps in Southeast of Turkey. %D 2019 %J International Archives of Medical Research %P 2146-6033- %V 11 %N 1 %R %U
ISNAD Oral, Diclehan , Şimşek, Selda , Türkyılmaz, Ayşegül , Yücel, İlyas , Tekes, Selahattin , Balkan, Mahmut . "Klinefelter’s syndrome and social handicaps in Southeast of Turkey.". International Archives of Medical Research 11 / 1 (Haziran 2019): 17-25 .
AMA Oral D , Şimşek S , Türkyılmaz A , Yücel İ , Tekes S , Balkan M . Klinefelter’s syndrome and social handicaps in Southeast of Turkey.. IAMR. 2019; 11(1): 17-25.
Vancouver Oral D , Şimşek S , Türkyılmaz A , Yücel İ , Tekes S , Balkan M . Klinefelter’s syndrome and social handicaps in Southeast of Turkey.. International Archives of Medical Research. 2019; 11(1): 25-17.