Klinefelter Sendromu ve İnfertilite
Referanslar
Klinefelter HFRE, Albright F (1942) Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle stimulating hormone. J Clin Endocrinol 2(11):615–627
Forti G, Corona G, Vignozzi L, Krausz C, Maggi M (2010) Klinefelter’s syndrome: a clinical and therapeutical update. J Endocrinol Invest (2017) 40:123–134 131 1 3 Sex Dev Gene Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ 4(4–5):249–258. doi:10.1159/000316604
Bojesen A, Juul S, Gravholt CH (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88(2):622–626. doi:10.1210/ jc.2002-021491
Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Am J Hum Genet. 2001 Nov;69(5):1046-54. doi: 10.1086/323763. Epub 2001 Oct 1. PMID: 11582569; PMCID: PMC1274351.
Host C, Skakkebaek A, Groth KA, Bojesen A (2014) The role of hypogonadism in Klinefelter syndrome. Asian J Androl 16(2):185–191. doi:10.4103/1008-682x.122201
Ratcliffe S (1999) Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 80(2):192–195
Topper E, Dickerman Z, Prager-Lewin R, Kaufman H, Maimon Z, Laron Z (1982) Puberty in 24 patients with Klinefelter syndrome. Eur J Pediatr 139(1):8–12
Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS (1985) Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 19(1):82–86. doi:10.1203/00006450-198501000-00022
Wikstrom AM, Dunkel L, Wickman S, Norjavaara E, AnkarbergLindgren C, Raivio T (2006) Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys. Pediatric Res 59(6):854–859. doi:10.1203/01. pdr.0000219386.31398.c3
Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P, Laurberg P, Frystyk J, Flyvbjerg A, Christiansen JS, Gravholt CH (2006) The metabolic syndrome is frequent in Klinefelter’s syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care 29(7):1591–1598. doi:10.2337/dc06-0145
Chang S, Skakkebaek A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Ostergaard JR, Gravholt CH (2015) Anthropometry in Klinefelter syndrome— multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab 100(3):E508–E517. doi:10.1210/jc.2014-2834
Wattendorf DJ, Muenke M (2005) Klinefelter syndrome. Am Fam Phys 72(11):2259–2262
Wikstrom AM, Dunkel L (2011) Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab 25(2):239–250. doi:10.1016/j. beem.2010.09.006
Bojesen A, Host C, Gravholt CH (2010) Klinefelter’s syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition. Mol Hum Reprod 16(6):396–401. doi:10.1093/ molehr/gaq016
Bojesen A, Gravholt CH (2011) Morbidity and mortality in Klinefelter syndrome (47, XXY). Acta Paediatr 100(6):807–813. doi:10.1111/j.1651-2227.2011.02274.x (Oslo, Norway: 1992)
Harnden DG, Maclean N, Langlands AO. Carcinoma of the breast and Klinefelter's syndrome. J Med Genet. 1971 Dec;8(4):460-1. doi: 10.1136/jmg.8.4.460. PMID: 4337761; PMCID: PMC1469088.
Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, Dörr HG. Klinefelter syndrome and mediastinal germ cell tumors. Am J Med Genet A. 2006 Mar 1;140(5):471-81. doi: 10.1002/ajmg.a.31103. PMID: 16470792.
Temple CM, Sanfilippo PM (2003) Executive skills in Klinefelter’s syndrome. Neuropsychologia 41(11):1547–1559
Geschwind DH, Boone KB, Miller BL, Swerdloff RS (2000) Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev 6(2):107–116. doi:10.1002/1098-2779(2000)6:2<107:aid-mrdd4>3.0.co;2-2
ITTI, Emmanuel, et al. Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society, 2003, 54.5: 669-673.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364(9430):273–283. doi:10.1016/s0140-6736(04)16678-6 (London, England)
Visootsak J, Graham JM Jr (2006) Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42. doi:10.1186/1750-1172-1-42
Bojesen A, Gravholt CH (2007) Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4(4):192–204. doi:10.1038/ ncpuro0775
Meschede DHJ (2002) Klinefelter Syndrome. In: Wass JHSS (ed) Oxford textbook of endocrinology and diabetes, vol 11, 1st edn. Oxford University Press, Oxford, pp 1292–1294
Wikstrom AM, Dunkel L (2011) Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab 25(2):239–250. doi:10.1016/j. beem.2010.09.006
Wikstrom AM, Bay K, Hero M, Andersson AM, Dunkel L (2006) Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome. J Clin Endocrinol Metab 91(11):4705–4708. doi:10.1210/jc.2006-0669
Smyth CM, Bremner WJ (1998) Klinefelter syndrome. Arch Intern Med 158(12):1309–1314
Kamischke A, Baumgardt A, Horst J, Nieschlag E (2003) Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 24(1):41–48
Daniele Santi SS, Rochira V (2015) Is serum estradiol really increased in patients with Klinefeler syndrome? Results from a meta-analysis study. Endocr Abstr 37:EP182. doi:10.1530/endoabs.37.EP182
Maseroli E, Rastrelli G, Corona G, Boddi V, Amato AM, Mannucci E, Forti G, Maggi M (2014) Gynecomastia in subjects with sexual dysfunction. J Endocrinol Invest 37(6):525–532. doi:10.1007/s40618-014-0055-z
Christiansen P, Andersson AM, Skakkebaek NE (2003) Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab 88(2):888–891. doi:10.1210/jc.2002-021379
Anawalt BD, Bebb RA, Matsumoto AM, Groome NP, Illingworth PJ, McNeilly AS, Bremner WJ (1996) Serum inhibin B levels reflect Sertoli cell function in normal men and men with testicular dysfunction. J Clin Endocrinol Metab 81(9):3341– 3345. doi:10.1210/jcem.81.9.8784094
Aksglaede L, Christiansen P, Sorensen K, Boas M, Linneberg A, Main KM, Andersson AM, Skakkebaek NE, Juul A (2011) Serum concentrations of Anti-Mullerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr 100(6):839–845. doi:10.1111/j.1651- 2227.2011.02148.x (Oslo, Norway: 1992)
Rohayem J, Fricke R, Czeloth K, Mallidis C, Wistuba J, Krallmann C, Zitzmann M, Kliesch S (2015) Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter’s syndrome. Andrology 3(5):868–875. doi:10.1111/ andr.12067
Ferlin A, Zuccarello D, Zuccarello B, Chirico MR, Zanon GF, Foresta C (2008) Genetic alterations associated with cryptorchidism. JAMA 300(19):2271–2276. doi:10.1001/jama.2008.668
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril. 2004 Oct;82(4):775-9. doi: 10.1016/j.fertnstert.2003.09.085. PMID: 15482743.
Gonsalves J, Turek PJ, Schlegel PN, Hopps CV, Weier JF, Pera RA. Recombination in men with Klinefelter syndrome. Reproduction. 2005 Aug;130(2):223-9. doi: 10.1530/rep.1.00641. PMID: 16049160.
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab. 2005 Nov;90(11):6263-7. doi: 10.1210/jc.2004-2322. Epub 2005 Aug 30. Erratum in: J Clin Endocrinol Metab. 2006 Oct;91(10):4027. PMID: 16131585.
Tanaka, A., Tanaka, I., Nagayoshi, M., Kusunoki, H., & Watanabe, S. (2013). Risk level of intracytoplasmic sperm/spermatid injection for 115 non-mosaic klinefelter syndrome patients. Fertility and Sterility, 100(3), S71.
GRECO, Ermanno, et al. Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome. Human reproduction, 2013, 28.5: 1155-1160.
Forti G, Corona G, Vignozzi L, Krausz C, Maggi M (2010) Klinefelter’s syndrome: a clinical and therapeutical update. J Endocrinol Invest (2017) 40:123–134 131 1 3 Sex Dev Gene Mol Biol Evol Endocrinol Embryol Pathol Sex Determ Differ 4(4–5):249–258. doi:10.1159/000316604
Bojesen A, Juul S, Gravholt CH (2003) Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 88(2):622–626. doi:10.1210/ jc.2002-021491
Lowe X, Eskenazi B, Nelson DO, Kidd S, Alme A, Wyrobek AJ. Frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome. Am J Hum Genet. 2001 Nov;69(5):1046-54. doi: 10.1086/323763. Epub 2001 Oct 1. PMID: 11582569; PMCID: PMC1274351.
Host C, Skakkebaek A, Groth KA, Bojesen A (2014) The role of hypogonadism in Klinefelter syndrome. Asian J Androl 16(2):185–191. doi:10.4103/1008-682x.122201
Ratcliffe S (1999) Long-term outcome in children of sex chromosome abnormalities. Arch Dis Child 80(2):192–195
Topper E, Dickerman Z, Prager-Lewin R, Kaufman H, Maimon Z, Laron Z (1982) Puberty in 24 patients with Klinefelter syndrome. Eur J Pediatr 139(1):8–12
Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS (1985) Pituitary-gonadal function in Klinefelter syndrome before and during puberty. Pediatr Res 19(1):82–86. doi:10.1203/00006450-198501000-00022
Wikstrom AM, Dunkel L, Wickman S, Norjavaara E, AnkarbergLindgren C, Raivio T (2006) Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys. Pediatric Res 59(6):854–859. doi:10.1203/01. pdr.0000219386.31398.c3
Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P, Laurberg P, Frystyk J, Flyvbjerg A, Christiansen JS, Gravholt CH (2006) The metabolic syndrome is frequent in Klinefelter’s syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care 29(7):1591–1598. doi:10.2337/dc06-0145
Chang S, Skakkebaek A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Ostergaard JR, Gravholt CH (2015) Anthropometry in Klinefelter syndrome— multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab 100(3):E508–E517. doi:10.1210/jc.2014-2834
Wattendorf DJ, Muenke M (2005) Klinefelter syndrome. Am Fam Phys 72(11):2259–2262
Wikstrom AM, Dunkel L (2011) Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab 25(2):239–250. doi:10.1016/j. beem.2010.09.006
Bojesen A, Host C, Gravholt CH (2010) Klinefelter’s syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition. Mol Hum Reprod 16(6):396–401. doi:10.1093/ molehr/gaq016
Bojesen A, Gravholt CH (2011) Morbidity and mortality in Klinefelter syndrome (47, XXY). Acta Paediatr 100(6):807–813. doi:10.1111/j.1651-2227.2011.02274.x (Oslo, Norway: 1992)
Harnden DG, Maclean N, Langlands AO. Carcinoma of the breast and Klinefelter's syndrome. J Med Genet. 1971 Dec;8(4):460-1. doi: 10.1136/jmg.8.4.460. PMID: 4337761; PMCID: PMC1469088.
Völkl TM, Langer T, Aigner T, Greess H, Beck JD, Rauch AM, Dörr HG. Klinefelter syndrome and mediastinal germ cell tumors. Am J Med Genet A. 2006 Mar 1;140(5):471-81. doi: 10.1002/ajmg.a.31103. PMID: 16470792.
Temple CM, Sanfilippo PM (2003) Executive skills in Klinefelter’s syndrome. Neuropsychologia 41(11):1547–1559
Geschwind DH, Boone KB, Miller BL, Swerdloff RS (2000) Neurobehavioral phenotype of Klinefelter syndrome. Ment Retard Dev Disabil Res Rev 6(2):107–116. doi:10.1002/1098-2779(2000)6:2<107:aid-mrdd4>3.0.co;2-2
ITTI, Emmanuel, et al. Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society, 2003, 54.5: 669-673.
Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E (2004) Klinefelter’s syndrome. Lancet 364(9430):273–283. doi:10.1016/s0140-6736(04)16678-6 (London, England)
Visootsak J, Graham JM Jr (2006) Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1:42. doi:10.1186/1750-1172-1-42
Bojesen A, Gravholt CH (2007) Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4(4):192–204. doi:10.1038/ ncpuro0775
Meschede DHJ (2002) Klinefelter Syndrome. In: Wass JHSS (ed) Oxford textbook of endocrinology and diabetes, vol 11, 1st edn. Oxford University Press, Oxford, pp 1292–1294
Wikstrom AM, Dunkel L (2011) Klinefelter syndrome. Best Pract Res Clin Endocrinol Metab 25(2):239–250. doi:10.1016/j. beem.2010.09.006
Wikstrom AM, Bay K, Hero M, Andersson AM, Dunkel L (2006) Serum insulin-like factor 3 levels during puberty in healthy boys and boys with Klinefelter syndrome. J Clin Endocrinol Metab 91(11):4705–4708. doi:10.1210/jc.2006-0669
Smyth CM, Bremner WJ (1998) Klinefelter syndrome. Arch Intern Med 158(12):1309–1314
Kamischke A, Baumgardt A, Horst J, Nieschlag E (2003) Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl 24(1):41–48
Daniele Santi SS, Rochira V (2015) Is serum estradiol really increased in patients with Klinefeler syndrome? Results from a meta-analysis study. Endocr Abstr 37:EP182. doi:10.1530/endoabs.37.EP182
Maseroli E, Rastrelli G, Corona G, Boddi V, Amato AM, Mannucci E, Forti G, Maggi M (2014) Gynecomastia in subjects with sexual dysfunction. J Endocrinol Invest 37(6):525–532. doi:10.1007/s40618-014-0055-z
Christiansen P, Andersson AM, Skakkebaek NE (2003) Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab 88(2):888–891. doi:10.1210/jc.2002-021379
Anawalt BD, Bebb RA, Matsumoto AM, Groome NP, Illingworth PJ, McNeilly AS, Bremner WJ (1996) Serum inhibin B levels reflect Sertoli cell function in normal men and men with testicular dysfunction. J Clin Endocrinol Metab 81(9):3341– 3345. doi:10.1210/jcem.81.9.8784094
Aksglaede L, Christiansen P, Sorensen K, Boas M, Linneberg A, Main KM, Andersson AM, Skakkebaek NE, Juul A (2011) Serum concentrations of Anti-Mullerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. Acta Paediatr 100(6):839–845. doi:10.1111/j.1651- 2227.2011.02148.x (Oslo, Norway: 1992)
Rohayem J, Fricke R, Czeloth K, Mallidis C, Wistuba J, Krallmann C, Zitzmann M, Kliesch S (2015) Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter’s syndrome. Andrology 3(5):868–875. doi:10.1111/ andr.12067
Ferlin A, Zuccarello D, Zuccarello B, Chirico MR, Zanon GF, Foresta C (2008) Genetic alterations associated with cryptorchidism. JAMA 300(19):2271–2276. doi:10.1001/jama.2008.668
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril. 2004 Oct;82(4):775-9. doi: 10.1016/j.fertnstert.2003.09.085. PMID: 15482743.
Gonsalves J, Turek PJ, Schlegel PN, Hopps CV, Weier JF, Pera RA. Recombination in men with Klinefelter syndrome. Reproduction. 2005 Aug;130(2):223-9. doi: 10.1530/rep.1.00641. PMID: 16049160.
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN. Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab. 2005 Nov;90(11):6263-7. doi: 10.1210/jc.2004-2322. Epub 2005 Aug 30. Erratum in: J Clin Endocrinol Metab. 2006 Oct;91(10):4027. PMID: 16131585.
Tanaka, A., Tanaka, I., Nagayoshi, M., Kusunoki, H., & Watanabe, S. (2013). Risk level of intracytoplasmic sperm/spermatid injection for 115 non-mosaic klinefelter syndrome patients. Fertility and Sterility, 100(3), S71.
GRECO, Ermanno, et al. Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome. Human reproduction, 2013, 28.5: 1155-1160.
Sayfalar
149-152
Gelecek
30 Nisan 2024
Telif Hakkı (c) 2024 Akademisyen Yayınevi Kitap Portalı
Lisans
LisansNasıl Atıf Yapılır
1.
İleri F. Klinefelter Sendromu ve İnfertilite. Içinde: Turgut H, editör. Güncel Üroloji Çalışmaları V (Bahar) [Internet]. Türkiye: Akademisyen Yayınevi Kitap DOI Portalı; 2024 [a.yer 13 Temmuz 2026]. ss. 149-52. Erişim adresi: https://omp35.books.akademisyen.net/index.php/akya/catalog/book/3059/chapter/13481
