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Volumn 22, Issue 7, 2007, Pages 1907-1911

Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report

Author keywords

Achondroplasia; Fertility; Fibroblast growth factor receptor 3; Klinefelter syndrome; Testis

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; FOLLITROPIN; INHIBIN B;

EID: 34447340644     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dem126     Document Type: Article
Times cited : (28)

References (37)
  • 1
    • 33846238500 scopus 로고    scopus 로고
    • Primary testicular failure in Klinefelter's syndrome: The use of bivariate luteinizing hormone-testosterone reference charts
    • Aksglaede L, Pedersen JH, Jørgensen N, Jensen TK, Skakkabaek NE, Juul A. Primary testicular failure in Klinefelter's syndrome: The use of bivariate luteinizing hormone-testosterone reference charts. Clin Endocrinol (Oxf) 2007;66:276-281.
    • (2007) Clin Endocrinol (Oxf) , vol.66 , pp. 276-281
    • Aksglaede, L.1    Pedersen, J.H.2    Jørgensen, N.3    Jensen, T.K.4    Skakkabaek, N.E.5    Juul, A.6
  • 3
    • 0030834572 scopus 로고    scopus 로고
    • Serum inhibin B in healthy pubertal and adolescent boys: Relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels
    • Andersson AM, Juul A, Petersen JH, Muller J, Groome NP, Skakkebaek NE. Serum inhibin B in healthy pubertal and adolescent boys: Relation to age, stage of puberty, and follicle-stimulating hormone, luteinizing hormone, testosterone, and estradiol levels. J Clin Endocrinol Metab 1997;82:3976-3981.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3976-3981
    • Andersson, A.M.1    Juul, A.2    Petersen, J.H.3    Muller, J.4    Groome, N.P.5    Skakkebaek, N.E.6
  • 5
    • 2942672815 scopus 로고    scopus 로고
    • Serum inhibin B and follicle-stimulating hormone levels as tools in the evaluation of infertile men: Significance of adequate reference values from proven fertile men
    • Andersson AM, Petersen JH, Jørgensen N, Jensen TK, Skakkebaek NE. Serum inhibin B and follicle-stimulating hormone levels as tools in the evaluation of infertile men: Significance of adequate reference values from proven fertile men. J Clin Endocrinol Metab 2004b;89 2873-2879.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 2873-2879
    • Andersson, A.M.1    Petersen, J.H.2    Jørgensen, N.3    Jensen, T.K.4    Skakkebaek, N.E.5
  • 6
    • 0035014112 scopus 로고    scopus 로고
    • Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/ 47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization
    • Blanco J, Egozcue J, Vidal F. Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/ 47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization. Hum Reprod 2001;16:887-892.
    • (2001) Hum Reprod , vol.16 , pp. 887-892
    • Blanco, J.1    Egozcue, J.2    Vidal, F.3
  • 7
    • 0037326103 scopus 로고    scopus 로고
    • Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study
    • Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. J Clin Endocrinol Metab 2003;88:622-626.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 622-626
    • Bojesen, A.1    Juul, S.2    Gravholt, C.H.3
  • 8
    • 0025961771 scopus 로고
    • A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
    • Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 1991;349:38-44.
    • (1991) Nature , vol.349 , pp. 38-44
    • Brown, C.J.1    Ballabio, A.2    Rupert, J.L.3    Lafreniere, R.G.4    Grompe, M.5    Tonlorenzi, R.6    Willard, H.F.7
  • 9
    • 0037326355 scopus 로고    scopus 로고
    • Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome
    • Christiansen P, Andersson AM, Skakkebaek NE. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. J Clin Endocrinol Metab 2003;88:888-891.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 888-891
    • Christiansen, P.1    Andersson, A.M.2    Skakkebaek, N.E.3
  • 10
    • 0035937405 scopus 로고    scopus 로고
    • Male-to-female sex reversal in mice lacking fibroblast growth factor 9
    • Colvin JS, Green RP, Schmahl J, Capel B, Ornitz DM. Male-to-female sex reversal in mice lacking fibroblast growth factor 9. Cell 2001; 104:875-889.
    • (2001) Cell , vol.104 , pp. 875-889
    • Colvin, J.S.1    Green, R.P.2    Schmahl, J.3    Capel, B.4    Ornitz, D.M.5
  • 11
    • 0028158533 scopus 로고
    • Achievement of meiosis in XXY germ cells: Study of 543 sperm karyotypes from an XY/XXY mosaic patient
    • Cozzi J, Chevret E, Rousseaux S, Pelletier R, Benitz V, Jalbert H, Sele B. Achievement of meiosis in XXY germ cells: Study of 543 sperm karyotypes from an XY/XXY mosaic patient, Hum Genet 1994;93 32-34.
    • (1994) Hum Genet , vol.93 , pp. 32-34
    • Cozzi, J.1    Chevret, E.2    Rousseaux, S.3    Pelletier, R.4    Benitz, V.5    Jalbert, H.6    Sele, B.7
  • 12
    • 0042490798 scopus 로고    scopus 로고
    • Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    • Goriely A, Mcvean GA, Rojmyr M, Ingemarsson B, Wilkie AO. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 2003;301:643-646.
    • (2003) Science , vol.301 , pp. 643-646
    • Goriely, A.1    Mcvean, G.A.2    Rojmyr, M.3    Ingemarsson, B.4    Wilkie, A.O.5
  • 13
    • 33645976805 scopus 로고    scopus 로고
    • New evidence for the origin of intracranial germ cell tumours from primordial germ cells: Expression of pluripotency and cell differentiation markers
    • Hoei-Hansen CE, Sehested A, Juhler M, Lau YF, Skakkebaek NE, Laursen H, Rajpert-De Meyts E. New evidence for the origin of intracranial germ cell tumours from primordial germ cells: Expression of pluripotency and cell differentiation markers. J Pathol 2006;209:25-33.
    • (2006) J Pathol , vol.209 , pp. 25-33
    • Hoei-Hansen, C.E.1    Sehested, A.2    Juhler, M.3    Lau, Y.F.4    Skakkebaek, N.E.5    Laursen, H.6    Rajpert-De Meyts, E.7
  • 14
    • 0028222568 scopus 로고
    • Klinefelter's syndrome: New and rapid diagnosis by PCR analysis of XIST gene expression
    • Kleinheinz A, Schulze W. Klinefelter's syndrome: New and rapid diagnosis by PCR analysis of XIST gene expression, Andrologia 1994;26 127-129.
    • (1994) Andrologia , vol.26 , pp. 127-129
    • Kleinheinz, A.1    Schulze, W.2
  • 15
    • 0022683507 scopus 로고
    • Achondroplasia associated with Klinefelter's syndrome
    • Kulakova TA, Ignat'ev I. Achondroplasia associated with Klinefelter's syndrome. Klin Med (Mosk) 1986,64:126-128.
    • (1986) Klin Med (Mosk) , vol.64 , pp. 126-128
    • Kulakova, T.A.1    Ignat'ev, I.2
  • 16
    • 0019944085 scopus 로고
    • Paternity in Klinefelter's syndrome - a case report
    • Laron Z, Dickerman Z, Zamir R, Galatzer A. Paternity in Klinefelter's syndrome - a case report. Arch Androl 1982;8:149-151.
    • (1982) Arch Androl , vol.8 , pp. 149-151
    • Laron, Z.1    Dickerman, Z.2    Zamir, R.3    Galatzer, A.4
  • 17
    • 0027272853 scopus 로고
    • Ultrasonic testicular texture and size in 444 men from the general population: Correlation to semen quality
    • Lenz S, Giwereman A, Elsborg A, Cohr KH, Jelnes JE, Carlsen E, Skakkebaek NE. Ultrasonic testicular texture and size in 444 men from the general population: Correlation to semen quality. Eur Urol 1993;24:231-238.
    • (1993) Eur Urol , vol.24 , pp. 231-238
    • Lenz, S.1    Giwereman, A.2    Elsborg, A.3    Cohr, K.H.4    Jelnes, J.E.5    Carlsen, E.6    Skakkebaek, N.E.7
  • 18
    • 0014736650 scopus 로고
    • Variation in the pattern of pubertal changes in boys
    • Marchall WA, Tanner JM. Variation in the pattern of pubertal changes in boys, Arch Dis Child 1969;45:13-23.
    • (1969) Arch Dis Child , vol.45 , pp. 13-23
    • Marchall, W.A.1    Tanner, J.M.2
  • 19
    • 0025981954 scopus 로고
    • Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes
    • Martinez-Frias ML, Cereijo A, Bermejo E, Lopez M, Sanchez M, Gonzalo C. Epidemiological aspects of Mendelian syndromes in a Spanish population sample: I. Autosomal dominant malformation syndromes. Am J Med Genet 1991;38:622-625.
    • (1991) Am J Med Genet , vol.38 , pp. 622-625
    • Martinez-Frias, M.L.1    Cereijo, A.2    Bermejo, E.3    Lopez, M.4    Sanchez, M.5    Gonzalo, C.6
  • 20
    • 0032931007 scopus 로고    scopus 로고
    • Meiotic aneuploidy in the XXY mouse: Evidence that a compromised testicular environment increases the incidence of meiotic errors
    • Mroz K, Hassold TJ, Hunt PA. Meiotic aneuploidy in the XXY mouse: evidence that a compromised testicular environment increases the incidence of meiotic errors. Hum Reprod 1999;14:1151-1156.
    • (1999) Hum Reprod , vol.14 , pp. 1151-1156
    • Mroz, K.1    Hassold, T.J.2    Hunt, P.A.3
  • 22
    • 33744922423 scopus 로고    scopus 로고
    • A human protein atlas based on antibody proteomics
    • Persson A, Hober S, Uhlen M. A human protein atlas based on antibody proteomics. Curr Opin Mol Ther 2006; 8:185-190.
    • (2006) Curr Opin Mol Ther , vol.8 , pp. 185-190
    • Persson, A.1    Hober, S.2    Uhlen, M.3
  • 23
    • 0033305357 scopus 로고    scopus 로고
    • Expression of anti-Mullerian hormone during normal and pathological gonadal development: Association with differentiation of Sertoli and granulosa cells
    • Rajpert-De Meyts E, Jørgensen N, Graem N, Muller J, Cate RL, Skakkeback NE. Expression of anti-Mullerian hormone during normal and pathological gonadal development: Association with differentiation of Sertoli and granulosa cells. J Clin Endocrinol Metab 1999; 84 3836-3844.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 3836-3844
    • Rajpert-De Meyts, E.1    Jørgensen, N.2    Graem, N.3    Muller, J.4    Cate, R.L.5    Skakkeback, N.E.6
  • 24
    • 24744464408 scopus 로고    scopus 로고
    • FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling
    • Sarrate Z, Blanco J, Anton E, Egozcue S, Egozcue J, Vidal F. FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling. Asian J Androl 2005;7:227-236.
    • (2005) Asian J Androl , vol.7 , pp. 227-236
    • Sarrate, Z.1    Blanco, J.2    Anton, E.3    Egozcue, S.4    Egozcue, J.5    Vidal, F.6
  • 25
    • 0028201791 scopus 로고
    • Achondroplasia with XXY karyotype
    • Sayli BS, Gul D, Cakirbay H. Achondroplasia with XXY karyotype. Clin Genet 1994;45:217-218.
    • (1994) Clin Genet , vol.45 , pp. 217-218
    • Sayli, B.S.1    Gul, D.2    Cakirbay, H.3
  • 29
    • 0014669045 scopus 로고
    • Two types of tubules containing only Sertoli cells in adults with Klinefelter's syndrome
    • Skakkebaek NE. Two types of tubules containing only Sertoli cells in adults with Klinefelter's syndrome. Nature 1969;223:643-645.
    • (1969) Nature , vol.223 , pp. 643-645
    • Skakkebaek, N.E.1
  • 30
    • 0014676293 scopus 로고
    • Meiotic chromosomes in Klinefelter's syndrome
    • Skakkebaek NE, Philip J, Hammen R. Meiotic chromosomes in Klinefelter's syndrome. Nature 1969;221:1075-1076.
    • (1969) Nature , vol.221 , pp. 1075-1076
    • Skakkebaek, N.E.1    Philip, J.2    Hammen, R.3
  • 31
    • 0031746556 scopus 로고    scopus 로고
    • Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium
    • Steger K, Tetens F, Seitz J, Grothe C, Bergmann M. Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium. Histochem Cell Biol 1998; 10:57-62.
    • (1998) Histochem Cell Biol , vol.10 , pp. 57-62
    • Steger, K.1    Tetens, F.2    Seitz, J.3    Grothe, C.4    Bergmann, M.5
  • 32
    • 0013954612 scopus 로고
    • Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I
    • Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. I. Arch Dis Child 1966;41:454-471.
    • (1966) Arch Dis Child , vol.41 , pp. 454-471
    • Tanner, J.M.1    Whitehouse, R.H.2    Takaishi, M.3
  • 33
    • 0026764927 scopus 로고
    • Fertility in a 47,XXY patient: Assessment of biological paternity by deoxyribonucleic acid fingerprinting
    • Terzoli G, Lalatta F, Lobbiani A, Simoni G, Colucci G. Fertility in a 47,XXY patient: Assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 1992;58:821-822.
    • (1992) Fertil Steril , vol.58 , pp. 821-822
    • Terzoli, G.1    Lalatta, F.2    Lobbiani, A.3    Simoni, G.4    Colucci, G.5
  • 34
    • 0042165844 scopus 로고    scopus 로고
    • The pituitary-testicular axis in Klinefelter's syndrome and in oligo-azoospermic patients with and without deletions of the Y chromosome long arm
    • Tomasi PA, Oares R, Brown L, Delitala G, Page DC. The pituitary-testicular axis in Klinefelter's syndrome and in oligo-azoospermic patients with and without deletions of the Y chromosome long arm. Clin Endocrinol (Oxf) 2003;59:214-222.
    • (2003) Clin Endocrinol (Oxf) , vol.59 , pp. 214-222
    • Tomasi, P.A.1    Oares, R.2    Brown, L.3    Delitala, G.4    Page, D.C.5
  • 35
    • 17844402791 scopus 로고    scopus 로고
    • Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
    • Wilkie AO. Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev 2005;16:187-203.
    • (2005) Cytokine Growth Factor Rev , vol.16 , pp. 187-203
    • Wilkie, A.O.1
  • 36
    • 8644232421 scopus 로고    scopus 로고
    • Effects of FGF9 on embryonic Sertoli cell proliferation and testicular cord formation in the mouse
    • Willerton L, Smith RA, Russell D, Mackay S. Effects of FGF9 on embryonic Sertoli cell proliferation and testicular cord formation in the mouse. Int J Dev Biol 2004;48:637-643.
    • (2004) Int J Dev Biol , vol.48 , pp. 637-643
    • Willerton, L.1    Smith, R.A.2    Russell, D.3    Mackay, S.4


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