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Volumn 30, Issue 1, 2003, Pages 143-152

Genetic disorders and infertility

Author keywords

[No Author keywords available]

Indexed keywords

DISEASE ASSOCIATION; GENE DELETION; GENETIC DISORDER; GENETICS; HUMAN; INFERTILITY; MALE FERTILITY; PRIORITY JOURNAL; REVIEW; RISK; SPERMATOGENESIS;

EID: 0037308932     PISSN: 00940143     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0094-0143(02)00112-X     Document Type: Review
Times cited : (19)

References (54)
  • 1
    • 0001054904 scopus 로고    scopus 로고
    • Male infertility
    • Walsh PC, RAVEWA editor. Philadelphia: WB Saunders
    • Sigman M, Howards SS. Male infertility. In: Walsh PC, RAVEWA editor. Campbell's urology. 7th edition. Philadelphia: WB Saunders; 1998. p. 1287-330.
    • (1998) Campbell's Urology. 7th Edition , pp. 1287-1330
    • Sigman, M.1    Howards, S.S.2
  • 2
    • 0003100170 scopus 로고    scopus 로고
    • LaHS Evaluation of the subfertile male
    • Lipshultz LI, Howards SS, editors. St. Louis: Mosby
    • Sigman ML. LaHS Evaluation of the subfertile male. In: Lipshultz LI, Howards SS, editors. Infertility in the male. 3rd edition. St. Louis: Mosby; 1997. p. 173-93.
    • (1997) Infertility in the Male. 3rd Edition , pp. 173-193
    • Sigman, M.L.1
  • 3
    • 0025877323 scopus 로고
    • Male development of chromosomally female mice transgenic for Sry
    • Koopman P, Gubbay J, Vivian N, et al. Male development of chromosomally female mice transgenic for Sry. Nature 1991;351:117-21.
    • (1991) Nature , vol.351 , pp. 117-121
    • Koopman, P.1    Gubbay, J.2    Vivian, N.3
  • 4
    • 0017119580 scopus 로고
    • Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm
    • Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34:119-24.
    • (1976) Hum Genet , vol.34 , pp. 119-124
    • Tiepolo, L.1    Zuffardi, O.2
  • 5
    • 0035012270 scopus 로고    scopus 로고
    • Y chromosome microdeletions and alterations of spermatogenesis
    • Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22:226-39.
    • (2001) Endocr Rev , vol.22 , pp. 226-239
    • Foresta, C.1    Moro, E.2    Ferlin, A.3
  • 6
    • 0030725069 scopus 로고    scopus 로고
    • Functional coherence of the human Y chromosome
    • Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997;278:675-80.
    • (1997) Science , vol.278 , pp. 675-680
    • Lahn, B.T.1    Page, D.C.2
  • 7
    • 0029088061 scopus 로고
    • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene
    • Reijo R, Lee TY, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995;10:383-93.
    • (1995) Nat Genet , vol.10 , pp. 383-393
    • Reijo, R.1    Lee, T.Y.2    Salo, P.3
  • 8
    • 0033707093 scopus 로고    scopus 로고
    • Y chromosome microdeletion screening in infertile men
    • Maurer B, Simoni M. Y chromosome microdeletion screening in infertile men. J Endocrinol Invest 2000;23:664-70.
    • (2000) J Endocrinol Invest , vol.23 , pp. 664-670
    • Maurer, B.1    Simoni, M.2
  • 9
    • 0031050740 scopus 로고    scopus 로고
    • Microdeletions in the Y chromosome of infertile men
    • Pryor JL, Kent-First M, Muallem A, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med 1997;336:534-9.
    • (1997) N Engl J Med , vol.336 , pp. 534-539
    • Pryor, J.L.1    Kent-First, M.2    Muallem, A.3
  • 10
    • 0032784089 scopus 로고    scopus 로고
    • Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility
    • Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999;14:1722-6.
    • (1999) Hum Reprod , vol.14 , pp. 1722-1726
    • Page, D.C.1    Silber, S.2    Brown, L.G.3
  • 11
    • 0033035541 scopus 로고    scopus 로고
    • Debate: Is ICSI a genetic time bomb? Yes
    • Lamb DJ. Debate: is ICSI a genetic time bomb? Yes. J Androl 1999;20:23-33.
    • (1999) J Androl , vol.20 , pp. 23-33
    • Lamb, D.J.1
  • 12
    • 0031698004 scopus 로고    scopus 로고
    • Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: Recommendations for genetic counseling and screening
    • Johnson MD. Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil Steril 1998;70:397-411.
    • (1998) Fertil Steril , vol.70 , pp. 397-411
    • Johnson, M.D.1
  • 13
    • 0030317035 scopus 로고    scopus 로고
    • Cytogenetics of infertile men
    • Van Assche E, Bonduelle M, Tournaye H, et al. Cytogenetics of infertile men. Hum Reprod 1996;11 (Suppl 4):1-24.
    • (1996) Hum Reprod , vol.11 , Issue.SUPPL. 4 , pp. 1-24
    • Van Assche, E.1    Bonduelle, M.2    Tournaye, H.3
  • 15
    • 0035075031 scopus 로고    scopus 로고
    • XX males without SRY gene and with infertility
    • Abusheikha N, Lass A, Brinsden P. XX males without SRY gene and with infertility. Hum Reprod 2001;16:717-8.
    • (2001) Hum Reprod , vol.16 , pp. 717-718
    • Abusheikha, N.1    Lass, A.2    Brinsden, P.3
  • 17
    • 0025922098 scopus 로고
    • Cytogenetic studies in male infertility: A review
    • De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod 1991;6:245-50.
    • (1991) Hum Reprod , vol.6 , pp. 245-250
    • De Braekeleer, M.1    Dao, T.N.2
  • 18
    • 0032568005 scopus 로고    scopus 로고
    • Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome
    • Palermo GD, Schlegel PN, Sills ES, et al. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. N Engl J Med 1998;338:588-90.
    • (1998) N Engl J Med , vol.338 , pp. 588-590
    • Palermo, G.D.1    Schlegel, P.N.2    Sills, E.S.3
  • 20
    • 0015435391 scopus 로고
    • Pathologic testicular findings in Klinefelter's syndrome. 47,XXY vs 46,XY-47,XXY
    • Gordon DL, Krmpotic E, Thomas W, et al. Pathologic testicular findings in Klinefelter's syndrome. 47,XXY vs 46,XY-47,XXY. Arch Intern Med 1972;130:726-9.
    • (1972) Arch Intern Med , vol.130 , pp. 726-729
    • Gordon, D.L.1    Krmpotic, E.2    Thomas, W.3
  • 21
    • 0034758599 scopus 로고    scopus 로고
    • Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter's syndrome
    • Poulakis V, Witzsch U, Diehl W, et al. Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter's syndrome. Fertil Steril 2001;76:1060-2.
    • (2001) Fertil Steril , vol.76 , pp. 1060-1062
    • Poulakis, V.1    Witzsch, U.2    Diehl, W.3
  • 22
    • 0028796261 scopus 로고
    • High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome
    • Harari O, Bourne H, Baker G, et al. High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome. Fertil Steril 1995;63:182-4.
    • (1995) Fertil Steril , vol.63 , pp. 182-184
    • Harari, O.1    Bourne, H.2    Baker, G.3
  • 23
    • 0001192315 scopus 로고
    • Disorders of sexual differentiation
    • Walsh PC, editor. Philadelphia: WB Saunders
    • Griffin JE. Disorders of sexual differentiation. In: Walsh PC, editor. Campbell's urology. Philadelphia: WB Saunders; 1992. p. 1496-542.
    • (1992) Campbell's Urology , pp. 1496-1542
    • Griffin, J.E.1
  • 24
    • 0033358591 scopus 로고    scopus 로고
    • Germ-cell nondisjunction in testes biopsies of men with idiopathic infertility
    • Huang WJ, Lamb DJ, Kim ED, et al. Germ-cell nondisjunction in testes biopsies of men with idiopathic infertility. Am J Hum Genet 1999;64:1638-45.
    • (1999) Am J Hum Genet , vol.64 , pp. 1638-1645
    • Huang, W.J.1    Lamb, D.J.2    Kim, E.D.3
  • 25
    • 0034882044 scopus 로고    scopus 로고
    • Sperm chromosome abnormalities in men with severe male factor infertility who are undergoing in vitro fertilization with intracytoplasmic sperm injection
    • Levron J, Aviram-Goldring A, Madgar I, et al. Sperm chromosome abnormalities in men with severe male factor infertility who are undergoing in vitro fertilization with intracytoplasmic sperm injection. Fertil Steril 2001;76:479-84.
    • (2001) Fertil Steril , vol.76 , pp. 479-484
    • Levron, J.1    Aviram-Goldring, A.2    Madgar, I.3
  • 26
    • 0034100519 scopus 로고    scopus 로고
    • Chromosome analysis of spermatozoa extracted from testes of men with non-obstructive azoospermia
    • Martin RH, Greene C, Rademaker A, et al. Chromosome analysis of spermatozoa extracted from testes of men with non-obstructive azoospermia. Hum Reprod 2000;15:1121-4.
    • (2000) Hum Reprod , vol.15 , pp. 1121-1124
    • Martin, R.H.1    Greene, C.2    Rademaker, A.3
  • 27
    • 0034766173 scopus 로고    scopus 로고
    • Increased chromosome X, Y, and 18 nondisjunction in sperm from infertile patients that were identified as normal by strict morphology: Implication for intracytoplasmic sperm injection
    • Ryu HM, Lin WW, Lamb DJ, et al. Increased chromosome X, Y, and 18 nondisjunction in sperm from infertile patients that were identified as normal by strict morphology: implication for intracytoplasmic sperm injection. Fertil Steril 2001;76:879-83.
    • (2001) Fertil Steril , vol.76 , pp. 879-883
    • Ryu, H.M.1    Lin, W.W.2    Lamb, D.J.3
  • 28
    • 0029886954 scopus 로고    scopus 로고
    • The risk of chromosomal abnormalities following ICSI
    • Martin RH. The risk of chromosomal abnormalities following ICSI. Hum Reprod 1996;11:924-5.
    • (1996) Hum Reprod , vol.11 , pp. 924-925
    • Martin, R.H.1
  • 29
    • 0033709330 scopus 로고    scopus 로고
    • The cystic fibrosis transmembrane regulator gene and male infertility
    • Quinzii C, Castellani C. The cystic fibrosis transmembrane regulator gene and male infertility. J Endocrinol Invest 2000;23:684-9.
    • (2000) J Endocrinol Invest , vol.23 , pp. 684-689
    • Quinzii, C.1    Castellani, C.2
  • 30
    • 0033639178 scopus 로고    scopus 로고
    • Congenital bilateral absence of the vas deferens: Clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
    • Daudin M, Bieth E, Bujan L, et al. Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. Fertil Steril 2000;74:1164-74.
    • (2000) Fertil Steril , vol.74 , pp. 1164-1174
    • Daudin, M.1    Bieth, E.2    Bujan, L.3
  • 31
    • 0035164715 scopus 로고    scopus 로고
    • Infertility in men with cystic fibrosis
    • Sokol RZ. Infertility in men with cystic fibrosis. Curr Opin Pulm Med 2001;7:421-6.
    • (2001) Curr Opin Pulm Med , vol.7 , pp. 421-426
    • Sokol, R.Z.1
  • 32
    • 0026608939 scopus 로고
    • Mucociliary function, ciliary ultrastructure, and ciliary orientation in Young's syndrome
    • de Iongh R, Ing A, Rutland J. Mucociliary function, ciliary ultrastructure, and ciliary orientation in Young's syndrome. Thorax 1992;47:184-7.
    • (1992) Thorax , vol.47 , pp. 184-187
    • De Iongh, R.1    Ing, A.2    Rutland, J.3
  • 35
    • 0026642442 scopus 로고
    • Brief report: Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
    • Bick D, Franco B, Sherins RJ, et al. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med 1992;326:1752-5.
    • (1992) N Engl J Med , vol.326 , pp. 1752-1755
    • Bick, D.1    Franco, B.2    Sherins, R.J.3
  • 36
    • 0025938481 scopus 로고
    • A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
    • Franco B, Guioli S, Pragliola A, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991;353:529-36.
    • (1991) Nature , vol.353 , pp. 529-536
    • Franco, B.1    Guioli, S.2    Pragliola, A.3
  • 37
    • 0031796372 scopus 로고    scopus 로고
    • Role of Ahch in gonadal development and gametogenesis
    • Yu RN, Ito M, Saunders TL, et al. Role of Ahch in gonadal development and gametogenesis. Nat Genet 1998;20:353-7.
    • (1998) Nat Genet , vol.20 , pp. 353-357
    • Yu, R.N.1    Ito, M.2    Saunders, T.L.3
  • 38
    • 0033000005 scopus 로고    scopus 로고
    • Loss of function mutations of the GnRH receptor: A new cause of hypogonadotropic hypogonadism
    • de Roux N, Young J, Misrahi M, et al. Loss of function mutations of the GnRH receptor: a new cause of hypogonadotropic hypogonadism. J Pediatr Endocrinol Metab 1999;12(Suppl 1):267-75.
    • (1999) J Pediatr Endocrinol Metab , vol.12 , Issue.SUPPL. 1 , pp. 267-275
    • De Roux, N.1    Young, J.2    Misrahi, M.3
  • 39
    • 0030949271 scopus 로고    scopus 로고
    • Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
    • Jackson RS, Creemers JW, Ohagi S, et al. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997;16:303-6.
    • (1997) Nat Genet , vol.16 , pp. 303-306
    • Jackson, R.S.1    Creemers, J.W.2    Ohagi, S.3
  • 40
    • 0026566594 scopus 로고
    • Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
    • Smeets DF, Hamel BC, Nelen MR, et al. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 1992;326:807-11.
    • (1992) N Engl J Med , vol.326 , pp. 807-811
    • Smeets, D.F.1    Hamel, B.C.2    Nelen, M.R.3
  • 41
    • 0026335545 scopus 로고
    • Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone
    • Weiss J, Axelrod L, Whitcomb RW, et al. Hypogonadism caused by a single amino acid substitution in the beta subunit of luteinizing hormone. N Engl J Med 1992;326:179-83.
    • (1992) N Engl J Med , vol.326 , pp. 179-183
    • Weiss, J.1    Axelrod, L.2    Whitcomb, R.W.3
  • 42
    • 0034145671 scopus 로고    scopus 로고
    • Luteinizing hormone receptor mutations in disorders of sexual development and cancer
    • Wu SM, Leschek EW, Rennert OM, et al. Luteinizing hormone receptor mutations in disorders of sexual development and cancer. Front Biosci 2000;5:D343-52.
    • (2000) Front Biosci , vol.5
    • Wu, S.M.1    Leschek, E.W.2    Rennert, O.M.3
  • 43
    • 0033018934 scopus 로고    scopus 로고
    • Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: Identification and characterization of two discrete FSH receptor isoforms
    • Simoni M, Gromoll J, Hoppner W, et al. Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J Clin Endocrinol Metab 1999;84:751-5.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 751-755
    • Simoni, M.1    Gromoll, J.2    Hoppner, W.3
  • 44
    • 0029069878 scopus 로고
    • Androgen receptor defects: Historical, clinical, and molecular perspectives
    • Quigley CA, De Bellis A, Marschke KB, et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 1995;16:271-321.
    • (1995) Endocr Rev , vol.16 , pp. 271-321
    • Quigley, C.A.1    De Bellis, A.2    Marschke, K.B.3
  • 45
    • 0026544312 scopus 로고
    • Androgen resistance-the clinical and molecular spectrum
    • Griffin JE. Androgen resistance-the clinical and molecular spectrum. N Engl J Med 1992;326:611-8.
    • (1992) N Engl J Med , vol.326 , pp. 611-618
    • Griffin, J.E.1
  • 46
    • 33747640635 scopus 로고
    • The syndrome of testicular feminization in male pseudohermaphrodites
    • Morris J. The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 1953;65:1192-211.
    • (1953) Am J Obstet Gynecol , vol.65 , pp. 1192-1211
    • Morris, J.1
  • 47
    • 0035170925 scopus 로고    scopus 로고
    • Significance of the polyglutamine tract polymorphism in the androgen receptor
    • Casella R, Maduro MR, Lipshultz LI, et al. Significance of the polyglutamine tract polymorphism in the androgen receptor. Urology 2001;58:651-6.
    • (2001) Urology , vol.58 , pp. 651-656
    • Casella, R.1    Maduro, M.R.2    Lipshultz, L.I.3
  • 48
    • 0028291412 scopus 로고
    • Etiology of prune belly syndrome: Evidence of megalocystic origin in an early fetus
    • Terada S, Suzuki N, Uchide K, et al. Etiology of prune belly syndrome: evidence of megalocystic origin in an early fetus. Obstet Gynecol 1994;83:865-8.
    • (1994) Obstet Gynecol , vol.83 , pp. 865-868
    • Terada, S.1    Suzuki, N.2    Uchide, K.3
  • 49
    • 0027500958 scopus 로고
    • Fertility and the use of assisted reproductive techniques in the adult male exstrophy/epispadias patient
    • Bastuba MD, Alper MM, Oates RD. Fertility and the use of assisted reproductive techniques in the adult male exstrophy/epispadias patient. Fertil Steril 1993;60:733-6.
    • (1993) Fertil Steril , vol.60 , pp. 733-736
    • Bastuba, M.D.1    Alper, M.M.2    Oates, R.D.3
  • 50
    • 0033967104 scopus 로고    scopus 로고
    • Decreased sperm function of patients with myotonic muscular dystrophy
    • Hortas ML, Castilla JA, Gil MT, et al. Decreased sperm function of patients with myotonic muscular dystrophy. Hum Reprod 2000;15:445-8.
    • (2000) Hum Reprod , vol.15 , pp. 445-448
    • Hortas, M.L.1    Castilla, J.A.2    Gil, M.T.3
  • 51
    • 0028334369 scopus 로고
    • Genital tract function in men with Noonan syndrome
    • Elsawi MM, Pryor JP, Klufio G, et al. Genital tract function in men with Noonan syndrome. J Med Genet 1994;31:468-70.
    • (1994) J Med Genet , vol.31 , pp. 468-470
    • Elsawi, M.M.1    Pryor, J.P.2    Klufio, G.3
  • 52
    • 0027622757 scopus 로고
    • Ultrastructure and function of cilia and spermatozoa flagella in a patient with Kartagener's syndrome
    • Yokota T, Ohno N, Tamura K, et al. Ultrastructure and function of cilia and spermatozoa flagella in a patient with Kartagener's syndrome. Intern Med 1993;32:593-7.
    • (1993) Intern Med , vol.32 , pp. 593-597
    • Yokota, T.1    Ohno, N.2    Tamura, K.3
  • 53
    • 0024500680 scopus 로고
    • Human fertilization by micro-injection of immotile spermatozoa
    • Bongso TA, Sathananthan AH, Wong PC, et al. Human fertilization by micro-injection of immotile spermatozoa. Hum Reprod 1989;4:175-9.
    • (1989) Hum Reprod , vol.4 , pp. 175-179
    • Bongso, T.A.1    Sathananthan, A.H.2    Wong, P.C.3
  • 54
    • 0023125867 scopus 로고
    • Testicular dysfunction in men with sickle cell disease
    • Osegbe DN, Akinyanju OO. Testicular dysfunction in men with sickle cell disease. Postgrad Med J 1987;63:95-8.
    • (1987) Postgrad Med J , vol.63 , pp. 95-98
    • Osegbe, D.N.1    Akinyanju, O.O.2


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