48 / XXYY MALE CASE WITH PRIMARY INFERTILITY

Abstract

Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births. The incidence of 48 / XXYY male individuals with many phenotypic features of Klinefelter syndrome is extremely rare and occurs in 1: 18000 -1: 100.000 men. However, they differ from Klinefelter syndrome with serious behavioral problems, mental reterdation and susceptibility to psychiatric diseases [1 ]. A 38-year-old man, referred to our Medical Biology and Genetics laboratory for karyotype analysis with primary infertility. He had undergone varicocele surgery and had high levels of FSH, low levels of testosterone and high levels of LH. Semen analysis demonstrated azoospermia In the psychiatric examination of the patient, whose IQ level was 90, language, learning and behavior disorder were diagnosed. The patient with deep vein thrombosis was recommended angiography because of right heart failure. Karyotype analysis revealed with 48,XXYY. This rare case shows the importance of karyotype analysis in diagnosis. In this study, the clinical and laboratory findings of the case are presented with the literature.

Keywords

• 48/XXYY,infertility,klinefelter,azospermia

Supporting Institution

DÜBAP

Project Number

TIP.18.036

References

1. References [1]. Tartaglia N., Ayari N., Howell S.,Epaginer C.,Zeitler P. “48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome”, Acta Paediatr, 100(6), 851-60, 2011.
2. [2]. Dündar M., Tıbbi Genetik ve Klinik Uygulamaları I, 1. Basım, Mgrup Matbaacılık., Kayseri.2016
3. [3].Krausz C., Chianese C. “Genetic testing and counseling for male infertility”, Curr Opin Endocrinol Diabetes Obes, 21(3), 244-250, 2014.
4. [4]. Mau-Holzmann, U. “Somatic chromosomal abnormalities in infertile men and women ” ,Cytogenet Genome Res, 111, 317-336 , 2005.
5. [5]. Aksglaede L., Juul A. “Testicular function and fertility in men with Klinefelter syndrome: a review” ,European Journal of Endocrinology ,168, R67–R76, 2013.
6. [6]. Wikström AM., Raivio T., Hadziselimovic F., Wikström S., Tuuri T., “Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion”, J Clin Endocrinol Metab , 89(5), 2263-70, 2004.
7. [7]. Tartaglia N., Davis S., Hench A.,Nimishakavi S., Beaugared R., Reynolds A., Fenton L., Albercht L.,Ross J., Visootsak J., Hansen R., Hagerman R. “A new look at XXYY syndrome: medical and psychological features”, Am J Med Genet A, 146A(12), 1509-1522, 2008.
8. [8]. Toledo SP., Arnhold IJ., Luthold W., Russo EM., Saldanha PH. “ Leydig cell hypoplasia determining familial hypergonadotropic hypogonadism”, Prog Clin Biol Res , 200, 311-314, 1985.

9. [9].Das GP., Shukla A., Verma IC. “ Phenotype of 49,XXYYY”, Clin Genet , 43, 196-199, 1993.
10. [10].Oral D., Şimşek S., Türkyılmaz A., Yücel İ., İsi H. “ Nadir Görülen 48,XXYY sendromlu Olgu”,Dicle Med. Journal, 34(2), 134-136, 2007.
11. [11]. Tartaglia N., Davis S., Hench A., Nimishakavi S., Beauregard R., Reynolds A., et al. “A new look at XXYY syndrome: medical and psychological features ”, Am J Med Genet A. 146A, 1509 -1522,2008.
12. [12]. A. Başaran N. Tibbi Genetik Ders Kitabı. 6. Basım Bilim Teknik Yayınevi. Eskişehir. 1996: 244-262
13. [13].Zelante L., Piemontese MR., Francioli G., Clavano S. “ Two 48,XXYY patients: clinical, cytogenetic and molecular aspects ”, Ann Genet , 46, 479-481,2003. [14]. Thompson and Thompson. Genetics in Medicine. Sixth Ed Philadelphia, 157-179, 2000
14. [15]. Izumi S, Tsubahara A. “ Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome ”, Tokai J Exp Clin Med , 25, 39-44, 2000
15. [16].Ottesen AM, Aksglaede L., Garn I., Tartaglia N., Tassone F., Gravholt CH., Bojesen A., Sorensen K., Jorgensen N., Meyts E., Gerdes T., Lind A., Kjaergaad S., Juul A. “ KIncreased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy”, Am J Med Genet A., 152A, 1206–1212, 2010.
16. [17]. Visootsak J., Aylstock M., Graham JM Jr. “Klinefelter syndrome and its variants: an update and review for the primary pediatrician ”, Clin Pediatr, 40, 639-51, 2001 [18]. Lanfranco F., Kamischke A., Zitzmann M., Nieschlag E. “Klinefelter’s syndrome ”, Lancet , 364, 273-83, 2004.
17. [ 19] Fullerton G, Hamilton M, Maheshwari A. “Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? ”,Hum Reprod 25, 588-97, 2010
18. [20 Myhre SA., Ruvalcaba RH., Johnson HR., “Thuline HC., Kelley VC. The effects of testosterone treatment in Klinefelter’s syndrome. ”, J Pediatr 76, 267-76, 1970.