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Volumn 7, Issue 6, 2012, Pages

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; TESTOSTERONE;

EID: 84862549630     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0039450     Document Type: Article
Times cited : (76)

References (40)
  • 1
    • 0024470630 scopus 로고
    • Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
    • Schwanzel-Fukuda M, Bick D, Pfaff DW, (1989) Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res Mol Brain Res 6: 311-326.
    • (1989) Brain Res Mol Brain Res , vol.6 , pp. 311-326
    • Schwanzel-Fukuda, M.1    Bick, D.2    Pfaff, D.W.3
  • 2
    • 0031694570 scopus 로고    scopus 로고
    • Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations
    • Seminara SB, Hayes FJ, Crowley WF Jr, (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev 19: 521-539.
    • (1998) Endocr Rev , vol.19 , pp. 521-539
    • Seminara, S.B.1    Hayes, F.J.2    Crowley Jr., W.F.3
  • 3
    • 33750902966 scopus 로고    scopus 로고
    • Kallmann's syndrome, a neuronal migration defect
    • Cariboni A, Maggi R, (2006) Kallmann's syndrome, a neuronal migration defect. Cell Mol Life Sci 63: 2512-2526.
    • (2006) Cell Mol Life Sci , vol.63 , pp. 2512-2526
    • Cariboni, A.1    Maggi, R.2
  • 4
    • 77957824538 scopus 로고    scopus 로고
    • Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions
    • Teixeira L, Guimiot F, Dode C, Fallet-Bianco C, Millar RP, et al. (2010) Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. J Clin Invest 120: 3668-3672.
    • (2010) J Clin Invest , vol.120 , pp. 3668-3672
    • Teixeira, L.1    Guimiot, F.2    Dode, C.3    Fallet-Bianco, C.4    Millar, R.P.5
  • 5
    • 77952641591 scopus 로고    scopus 로고
    • What is the optimal therapy for young males with hypogonadotropic hypogonadism?
    • Han TS, Bouloux PM, (2010) What is the optimal therapy for young males with hypogonadotropic hypogonadism? Clin Endocrinol (Oxf) 72: 731-737.
    • (2010) Clin Endocrinol (Oxf) , vol.72 , pp. 731-737
    • Han, T.S.1    Bouloux, P.M.2
  • 7
    • 34147093125 scopus 로고
    • Delayed puberty and anosmia; coincidence or Kallmann variant?
    • Rezvani I, DiGeorge A, Rutano J, Snyder P, (1975) Delayed puberty and anosmia; coincidence or Kallmann variant? Pediatr Res 9: 224.
    • (1975) Pediatr Res , vol.9 , pp. 224
    • Rezvani, I.1    DiGeorge, A.2    Rutano, J.3    Snyder, P.4
  • 8
    • 0018965161 scopus 로고
    • HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome)
    • Rogol AD, Mittal KK, White BJ, McGinniss MH, Lieblich JM, et al. (1980) HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome). J Clin Endocrinol Metab 51: 275-279.
    • (1980) J Clin Endocrinol Metab , vol.51 , pp. 275-279
    • Rogol, A.D.1    Mittal, K.K.2    White, B.J.3    McGinniss, M.H.4    Lieblich, J.M.5
  • 9
    • 0020566587 scopus 로고
    • Testosterone-induced fertility in a patient with previously untreated s syndrome
    • Rowe RC, Schroeder ML, Faiman C, (1983) Testosterone-induced fertility in a patient with previously untreated s syndrome. Fertil Steril 40: 400-401.
    • (1983) Fertil Steril , vol.40 , pp. 400-401
    • Rowe, R.C.1    Schroeder, M.L.2    Faiman, C.3
  • 10
    • 0022453480 scopus 로고
    • Markedly delayed puberty or Kallmann's syndrome variant
    • Bauman A, (1986) Markedly delayed puberty or Kallmann's syndrome variant. J Androl 7: 224-227.
    • (1986) J Androl , vol.7 , pp. 224-227
    • Bauman, A.1
  • 12
    • 0029868810 scopus 로고    scopus 로고
    • Case report: olfactory function in a fertile eunuch with Kallmann syndrome
    • Wortsman J, Hughes LF, (1996) Case report: olfactory function in a fertile eunuch with Kallmann syndrome. Am J Med Sci 311: 135-138.
    • (1996) Am J Med Sci , vol.311 , pp. 135-138
    • Wortsman, J.1    Hughes, L.F.2
  • 14
    • 0028097991 scopus 로고
    • Preservation of fertility despite subnormal gonadotropin and testosterone levels after cessation of pulsatile gonadotropin-releasing hormone therapy in a man with Kallmann's syndrome
    • Bagatell CJ, Paulsen CA, Bremner WJ, (1994) Preservation of fertility despite subnormal gonadotropin and testosterone levels after cessation of pulsatile gonadotropin-releasing hormone therapy in a man with Kallmann's syndrome. Fertil Steril 61: 392-394.
    • (1994) Fertil Steril , vol.61 , pp. 392-394
    • Bagatell, C.J.1    Paulsen, C.A.2    Bremner, W.J.3
  • 15
    • 0034978722 scopus 로고    scopus 로고
    • The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor
    • Pitteloud N, Boepple PA, DeCruz S, Valkenburgh SB, Crowley WF Jr, et al. (2001) The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. J Clin Endocrinol Metab 86: 2470-2475.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2470-2475
    • Pitteloud, N.1    Boepple, P.A.2    DeCruz, S.3    Valkenburgh, S.B.4    Crowley Jr., W.F.5
  • 16
    • 15944364441 scopus 로고    scopus 로고
    • Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene
    • Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, et al. (2005) Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene. J Clin Endocrinol Metab 90: 1317-1322.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 1317-1322
    • Pitteloud, N.1    Acierno Jr., J.S.2    Meysing, A.U.3    Dwyer, A.A.4    Hayes, F.J.5
  • 17
    • 33845497498 scopus 로고    scopus 로고
    • A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia
    • Lin L, Conway GS, Hill NR, Dattani MT, Hindmarsh PC, et al. (2006) A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinol Metab 91: 5117-5121.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 5117-5121
    • Lin, L.1    Conway, G.S.2    Hill, N.R.3    Dattani, M.T.4    Hindmarsh, P.C.5
  • 18
    • 34147163013 scopus 로고    scopus 로고
    • Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review
    • Ribeiro RS, Vieira TC, Abucham J, (2007) Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review. Eur J Endocrinol 156: 285-290.
    • (2007) Eur J Endocrinol , vol.156 , pp. 285-290
    • Ribeiro, R.S.1    Vieira, T.C.2    Abucham, J.3
  • 19
    • 52449133904 scopus 로고    scopus 로고
    • Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report
    • Sinisi AA, Asci R, Bellastella G, Maione L, Esposito D, et al. (2008) Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. Hum Reprod 23: 2380-2384.
    • (2008) Hum Reprod , vol.23 , pp. 2380-2384
    • Sinisi, A.A.1    Asci, R.2    Bellastella, G.3    Maione, L.4    Esposito, D.5
  • 20
    • 70449103248 scopus 로고    scopus 로고
    • Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism
    • Raivio T, Sidis Y, Plummer L, Chen H, Ma J, et al. (2009) Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab 94: 4380-4390.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 4380-4390
    • Raivio, T.1    Sidis, Y.2    Plummer, L.3    Chen, H.4    Ma, J.5
  • 21
    • 77954517193 scopus 로고    scopus 로고
    • TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood
    • Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, et al. (2010) TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab 95: 2857-2867.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 2857-2867
    • Gianetti, E.1    Tusset, C.2    Noel, S.D.3    Au, M.G.4    Dwyer, A.A.5
  • 22
    • 59349105365 scopus 로고    scopus 로고
    • Dihydrotestosterone and leptin regulate gonadotropin-releasing hormone (GnRH) expression and secretion in human GnRH-secreting neuroblasts
    • Morelli A, Fibbi B, Marini M, Silvestrini E, De Vita G, et al. (2009) Dihydrotestosterone and leptin regulate gonadotropin-releasing hormone (GnRH) expression and secretion in human GnRH-secreting neuroblasts. J Sex Med 6: 397-407.
    • (2009) J Sex Med , vol.6 , pp. 397-407
    • Morelli, A.1    Fibbi, B.2    Marini, M.3    Silvestrini, E.4    de Vita, G.5
  • 23
    • 33745899055 scopus 로고    scopus 로고
    • Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
    • Zenaty D, Bretones P, Lambe C, Guemas I, David M, et al. (2006) Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). Mol Cell Endocrinol 254-255: 78-83.
    • (2006) Mol Cell Endocrinol , vol.254-255 , pp. 78-83
    • Zenaty, D.1    Bretones, P.2    Lambe, C.3    Guemas, I.4    David, M.5
  • 25
    • 81355149901 scopus 로고    scopus 로고
    • Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test
    • Koenigkam-Santos M, Santos AC, Versiani BR, Diniz PR, Junior JE, et al. (2011) Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test. Neuroendocrinology 94: 209-217.
    • (2011) Neuroendocrinology , vol.94 , pp. 209-217
    • Koenigkam-Santos, M.1    Santos, A.C.2    Versiani, B.R.3    Diniz, P.R.4    Junior, J.E.5
  • 26
    • 70350754572 scopus 로고    scopus 로고
    • Normal spermatogenesis in a man with mutant luteinizing hormone
    • Achard C, Courtillot C, Lahuna O, Meduri G, Soufir JC, et al. (2009) Normal spermatogenesis in a man with mutant luteinizing hormone. N Engl J Med 361: 1856-1863.
    • (2009) N Engl J Med , vol.361 , pp. 1856-1863
    • Achard, C.1    Courtillot, C.2    Lahuna, O.3    Meduri, G.4    Soufir, J.C.5
  • 27
    • 79959730664 scopus 로고    scopus 로고
    • The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty
    • Vaaralahti K, Wehkalampi K, Tommiska J, Laitinen EM, Dunkel L, et al. (2011) The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty. Fertil Steril 95: 2756-2758.
    • (2011) Fertil Steril , vol.95 , pp. 2756-2758
    • Vaaralahti, K.1    Wehkalampi, K.2    Tommiska, J.3    Laitinen, E.M.4    Dunkel, L.5
  • 28
    • 0025190205 scopus 로고
    • Effects of chronic testosterone administration in normal men: safety and efficacy of high dosage testosterone and parallel dose-dependent suppression of luteinizing hormone, follicle-stimulating hormone, and sperm production
    • Matsumoto AM, (1990) Effects of chronic testosterone administration in normal men: safety and efficacy of high dosage testosterone and parallel dose-dependent suppression of luteinizing hormone, follicle-stimulating hormone, and sperm production. J Clin Endocrinol Metab 70: 282-287.
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 282-287
    • Matsumoto, A.M.1
  • 29
    • 0036283673 scopus 로고    scopus 로고
    • Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene
    • Dewailly D, Boucher A, Decanter C, Lagarde JP, Counis R, et al. (2002) Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene. Fertil Steril 77: 1288-1291.
    • (2002) Fertil Steril , vol.77 , pp. 1288-1291
    • Dewailly, D.1    Boucher, A.2    Decanter, C.3    Lagarde, J.P.4    Counis, R.5
  • 30
    • 0030698188 scopus 로고    scopus 로고
    • A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
    • de Roux N, Young J, Misrahi M, Genet R, Chanson P, et al. (1997) A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med 337: 1597-1602.
    • (1997) N Engl J Med , vol.337 , pp. 1597-1602
    • de Roux, N.1    Young, J.2    Misrahi, M.3    Genet, R.4    Chanson, P.5
  • 32
    • 53249149000 scopus 로고    scopus 로고
    • Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
    • Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, et al. (2008) Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 83: 511-519.
    • (2008) Am J Hum Genet , vol.83 , pp. 511-519
    • Kim, H.G.1    Kurth, I.2    Lan, F.3    Meliciani, I.4    Wenzel, W.5
  • 33
    • 58149186461 scopus 로고    scopus 로고
    • CHD7 mutations in patients initially diagnosed with Kallmann syndrome-the clinical overlap with CHARGE syndrome
    • Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, et al. (2009) CHD7 mutations in patients initially diagnosed with Kallmann syndrome-the clinical overlap with CHARGE syndrome. Clin Genet 75: 65-71.
    • (2009) Clin Genet , vol.75 , pp. 65-71
    • Jongmans, M.C.1    van Ravenswaaij-Arts, C.M.2    Pitteloud, N.3    Ogata, T.4    Sato, N.5
  • 35
    • 26244436980 scopus 로고    scopus 로고
    • CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development
    • Pinto G, Abadie V, Mesnage R, Blustajn J, Cabrol S, et al. (2005) CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J Clin Endocrinol Metab 90: 5621-5626.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5621-5626
    • Pinto, G.1    Abadie, V.2    Mesnage, R.3    Blustajn, J.4    Cabrol, S.5
  • 38
    • 77249117148 scopus 로고    scopus 로고
    • CHD7 cooperates with PBAF to control multipotent neural crest formation
    • Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, et al. (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463: 958-962.
    • (2010) Nature , vol.463 , pp. 958-962
    • Bajpai, R.1    Chen, D.A.2    Rada-Iglesias, A.3    Zhang, J.4    Xiong, Y.5
  • 39
    • 79955774697 scopus 로고    scopus 로고
    • Neural crest and ectodermal cells intermix in the nasal placode to give rise to GnRH-1 neurons, sensory neurons, and olfactory ensheathing cells
    • Forni PE, Taylor-Burds C, Melvin VS, Williams T, Wray S, (2011) Neural crest and ectodermal cells intermix in the nasal placode to give rise to GnRH-1 neurons, sensory neurons, and olfactory ensheathing cells. J Neurosci 31: 6915-6927.
    • (2011) J Neurosci , vol.31 , pp. 6915-6927
    • Forni, P.E.1    Taylor-Burds, C.2    Melvin, V.S.3    Williams, T.4    Wray, S.5
  • 40
    • 79960802234 scopus 로고    scopus 로고
    • Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome
    • Layman WS, Hurd EA, Martin DM, (2011) Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet 20: 3138-3150.
    • (2011) Hum Mol Genet , vol.20 , pp. 3138-3150
    • Layman, W.S.1    Hurd, E.A.2    Martin, D.M.3


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