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Volumn 100, Issue 4, 2015, Pages E646-E654

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DELAYED PUBERTY; FAMILY; FAMILY HISTORY; FEMALE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM; IL17RD GENE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; PEDIGREE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TAC3 GENE; DNA MUTATIONAL ANALYSIS; GENETICS; HYPOGONADISM;

EID: 84927593500     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-1080     Document Type: Article
Times cited : (82)

References (43)
  • 1
    • 84856575903 scopus 로고    scopus 로고
    • Clinical practice. Delayed puberty
    • Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012;366:443-453.
    • (2012) N Engl J Med. , vol.366 , pp. 443-453
    • Palmert, M.R.1    Dunkel, L.2
  • 3
    • 0036280914 scopus 로고    scopus 로고
    • Delayed puberty: Analysis of a large case series from an academic center
    • Sedlmeyer IL, Palmert MR. Delayed puberty: Analysis of a large case series from an academic center. J Clin Endocrinol Metab. 2002;87:1613-1620.
    • (2002) J Clin Endocrinol Metab. , vol.87 , pp. 1613-1620
    • Sedlmeyer, I.L.1    Palmert, M.R.2
  • 4
    • 0036925681 scopus 로고    scopus 로고
    • Pedigree analysis of constitutional delay of growth and maturation: Determination of familial aggregation and inheritance patterns
    • Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: Determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab. 2002;87:5581-5586.
    • (2002) J Clin Endocrinol Metab. , vol.87 , pp. 5581-5586
    • Sedlmeyer, I.L.1    Hirschhorn, J.N.2    Palmert, M.R.3
  • 5
    • 40849145458 scopus 로고    scopus 로고
    • Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care
    • Wehkalampi K, Widén E, Laine T, Palotie A, Dunkel L. Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care. J Clin Endocrinol Metab. 2008;93:723-728.
    • (2008) J Clin Endocrinol Metab. , vol.93 , pp. 723-728
    • Wehkalampi, K.1    Widén, E.2    Laine, T.3    Palotie, A.4    Dunkel, L.5
  • 7
    • 0029819642 scopus 로고    scopus 로고
    • The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human
    • Waldstreicher J, Seminara SB, Jameson JL, et al. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab. 1996;81:4388-4395.
    • (1996) J Clin Endocrinol Metab. , vol.81 , pp. 4388-4395
    • Waldstreicher, J.1    Seminara, S.B.2    Jameson, J.L.3
  • 9
    • 0022453480 scopus 로고
    • Markedly delayed puberty or Kallmann's syndrome variant
    • Bauman A. Markedly delayed puberty or Kallmann's syndrome variant. J Androl. 1986;7:224-227.
    • (1986) J Androl , vol.7 , pp. 224-227
    • Bauman, A.1
  • 10
    • 0024334379 scopus 로고
    • Pulsatile gonadotropin secretion after discontinuation of long term gonadotropin-releasing hormone (GnRH) administration in a subset of GnRH-deficient men
    • Finkelstein JS, Spratt DI, O'Dea LS, et al. Pulsatile gonadotropin secretion after discontinuation of long term gonadotropin-releasing hormone (GnRH) administration in a subset of GnRH-deficient men. J Clin Endocrinol Metab. 1989;69:377-385.
    • (1989) J Clin Endocrinol Metab. , vol.69 , pp. 377-385
    • Finkelstein, J.S.1    Spratt, D.I.2    O'Dea, L.S.3
  • 12
    • 34548331152 scopus 로고    scopus 로고
    • Reversal of idiopathic hypogonadotropic hypogonadism
    • Raivio T, Falardeau J, Dwyer A, et al. Reversal of idiopathic hypogonadotropic hypogonadism. NEngl JMed. 2007;357:863-873.
    • (2007) NEngl JMed. , vol.357 , pp. 863-873
    • Raivio, T.1    Falardeau, J.2    Dwyer, A.3
  • 13
    • 77954517193 scopus 로고    scopus 로고
    • TAC3/TACR3mutations 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, et al. TAC3/TACR3mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab. 2010;95:2857-2867.
    • (2010) J Clin Endocrinol Metab. , vol.95 , pp. 2857-2867
    • Gianetti, E.1    Tusset, C.2    Noel, S.D.3
  • 14
    • 79960986103 scopus 로고    scopus 로고
    • Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
    • Tornberg J, Sykiotis GP, Keefe K, et al. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proc Natl Acad Sci U S A. 2011;108:11524-11529.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 11524-11529
    • Tornberg, J.1    Sykiotis, G.P.2    Keefe, K.3
  • 15
    • 84895791491 scopus 로고    scopus 로고
    • Reversal and relapse of hypogonadotropic hypogonadism: Resilience and fragility of the reproductive neuroendocrine system
    • Sidhoum VF, Chan YM, Lippincott MF, et al. Reversal and relapse of hypogonadotropic hypogonadism: Resilience and fragility of the reproductive neuroendocrine system. J Clin Endocrinol Metab. 2014;99:861-870.
    • (2014) J Clin Endocrinol Metab. , vol.99 , pp. 861-870
    • Sidhoum, V.F.1    Chan, Y.M.2    Lippincott, M.F.3
  • 16
    • 84877260745 scopus 로고    scopus 로고
    • Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism
    • Miraoui H, Dwyer AA, Sykiotis GP, et al. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Am J Hum Genet. 2013;92:725-743.
    • (2013) Am J Hum Genet. , vol.92 , pp. 725-743
    • Miraoui, H.1    Dwyer, A.A.2    Sykiotis, G.P.3
  • 17
    • 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, Raivio T. The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty. Fertil Steril. 2011;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    Raivio, T.6
  • 18
    • 84872796582 scopus 로고    scopus 로고
    • Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders
    • Tusset C, Noel SD, Trarbach EB, et al. Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol. 2012;56:646-652.
    • (2012) Arq Bras Endocrinol Metabol. , vol.56 , pp. 646-652
    • Tusset, C.1    Noel, S.D.2    Trarbach, E.B.3
  • 19
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature. 2012;491:56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3
  • 21
    • 0037249501 scopus 로고    scopus 로고
    • PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification
    • Thomas PD, Kejariwal A, Campbell MJ, et al. PANTHER: A browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acids Res. 2003;31:334-341.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 334-341
    • Thomas, P.D.1    Kejariwal, A.2    Campbell, M.J.3
  • 22
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 23
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4:1073-1081.
    • (2009) Nat Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 25
    • 77955151784 scopus 로고    scopus 로고
    • Mutation-Taster evaluates disease-causing potential of sequence alterations
    • Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Mutation-Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
    • (2010) Nat Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rödelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 26
    • 20044396569 scopus 로고    scopus 로고
    • Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: Investigation of role in pubertal timing
    • Sedlmeyer IL, Pearce CL, Trueman JA, et al. Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: Investigation of role in pubertal timing. J Clin Endocrinol Metab. 2005;90:1091-1099.
    • (2005) J Clin Endocrinol Metab. , vol.90 , pp. 1091-1099
    • Sedlmeyer, I.L.1    Pearce, C.L.2    Trueman, J.A.3
  • 27
    • 57349108889 scopus 로고    scopus 로고
    • Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche
    • Gajdos ZK, Butler JL, Henderson KD, et al. Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche. J Clin Endocrinol Metab. 2008;93:4290-4298.
    • (2008) J Clin Endocrinol Metab. , vol.93 , pp. 4290-4298
    • Gajdos, Z.K.1    Butler, J.L.2    Henderson, K.D.3
  • 29
    • 84908024873 scopus 로고    scopus 로고
    • Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
    • Perry JR, Day F, Elks CE, et al. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature. 2014;514:92-97.
    • (2014) Nature , vol.514 , pp. 92-97
    • Perry, J.R.1    Day, F.2    Elks, C.E.3
  • 30
    • 0025274063 scopus 로고
    • Patterns of pulsatile luteinizing hormone secretion before and during the onset of puberty in boys: A study using an immunoradiometric assay
    • Wu FC, Butler GE, Kelnar CJ, Sellar RE. Patterns of pulsatile luteinizing hormone secretion before and during the onset of puberty in boys: A study using an immunoradiometric assay. J Clin Endocrinol Metab. 1990;70:629-637.
    • (1990) J Clin Endocrinol Metab. , vol.70 , pp. 629-637
    • Wu, F.C.1    Butler, G.E.2    Kelnar, C.J.3    Sellar, R.E.4
  • 31
    • 34347373055 scopus 로고    scopus 로고
    • Progressive reduction of relative height in childhood predicts adult stature below target height in boys with constitutional delay of growth and puberty
    • Wehkalampi K, Vangonen K, Laine T, Dunkel L. Progressive reduction of relative height in childhood predicts adult stature below target height in boys with constitutional delay of growth and puberty. Horm Res. 2007;68:99-104.
    • (2007) Horm Res , vol.68 , pp. 99-104
    • Wehkalampi, K.1    Vangonen, K.2    Laine, T.3    Dunkel, L.4
  • 32
    • 2342633204 scopus 로고    scopus 로고
    • Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    • Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004;350:1838-1849.
    • (2004) N Engl J Med. , vol.350 , pp. 1838-1849
    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3
  • 33
    • 33745288813 scopus 로고    scopus 로고
    • KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    • Gloyn AL, Diatloff-Zito C, Edghill EL, et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet. 2006;14:824-830.
    • (2006) Eur J Hum Genet. , vol.14 , pp. 824-830
    • Gloyn, A.L.1    Diatloff-Zito, C.2    Edghill, E.L.3
  • 34
    • 33847041796 scopus 로고    scopus 로고
    • Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program
    • Florez JC, Jablonski KA, Kahn SE, et al. Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes. 2007;56:531-536.
    • (2007) Diabetes , vol.56 , pp. 531-536
    • Florez, J.C.1    Jablonski, K.A.2    Kahn, S.E.3
  • 35
    • 11844286928 scopus 로고    scopus 로고
    • Apolipoprotein E and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects
    • Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects. Semin Vasc Med. 2004;4:249-257.
    • (2004) Semin Vasc Med. , vol.4 , pp. 249-257
    • Smelt, A.H.1    De Beer, F.2
  • 36
    • 77950948152 scopus 로고    scopus 로고
    • Genetic variants associated with fasting blood lipids in the U. S. Population: Third National Health and Nutrition Examination Survey
    • Chang MH, Yesupriya A, Ned RM, Mueller PW, Dowling NF. Genetic variants associated with fasting blood lipids in the U. S. population: Third National Health and Nutrition Examination Survey. BMC Med Genet. 2010;11:62.
    • (2010) BMC Med Genet. , vol.11 , pp. 62
    • Chang, M.H.1    Yesupriya, A.2    Ned, R.M.3    Mueller, P.W.4    Dowling, N.F.5
  • 37
    • 78751621790 scopus 로고    scopus 로고
    • Agenetic basis for functional hypothalamic amenorrhea
    • Caronia LM, Martin C, Welt CK, et al. Agenetic basis for functional hypothalamic amenorrhea. N Engl J Med. 2011;364:215-225.
    • (2011) N Engl J Med. , vol.364 , pp. 215-225
    • Caronia, L.M.1    Martin, C.2    Welt, C.K.3
  • 38
    • 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, et al. Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2009;94:4380-4390.
    • (2009) J Clin Endocrinol Metab. , vol.94 , pp. 4380-4390
    • Raivio, T.1    Sidis, Y.2    Plummer, L.3
  • 39
    • 33646567190 scopus 로고    scopus 로고
    • Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
    • Pitteloud N, Acierno JS Jr, Meysing A, et al. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci U S A. 2006;103:6281-6286.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 6281-6286
    • Pitteloud, N.1    Acierno, J.S.2    Meysing, A.3
  • 40
    • 33745948557 scopus 로고    scopus 로고
    • Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
    • Pitteloud N, Meysing A, Quinton R, et al. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Mol Cell Endocrinol 2006;254-255:60-69.
    • (2006) Mol Cell Endocrinol , vol.254-255 , pp. 60-69
    • Pitteloud, N.1    Meysing, A.2    Quinton, R.3
  • 41
    • 17744373868 scopus 로고    scopus 로고
    • The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics
    • Oliveira LM, Seminara SB, Beranova M, et al. The importance of autosomal genes in Kallmann syndrome: Genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001;86:1532-1538.
    • (2001) J Clin Endocrinol Metab. , vol.86 , pp. 1532-1538
    • Oliveira, L.M.1    Seminara, S.B.2    Beranova, M.3
  • 42
    • 51649125515 scopus 로고    scopus 로고
    • Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum
    • Cole LW, Sidis Y, Zhang C, et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum. J Clin Endocrinol Metab. 2008;93:3551-3559.
    • (2008) J Clin Endocrinol Metab. , vol.93 , pp. 3551-3559
    • Cole, L.W.1    Sidis, Y.2    Zhang, C.3
  • 43
    • 84866435612 scopus 로고    scopus 로고
    • Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism
    • Gürbüz F, Kotan LD, Mengen E, et al. Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol. 2012;4:121-126.
    • (2012) J Clin Res Pediatr Endocrinol. , vol.4 , pp. 121-126
    • Gürbüz, F.1    Kotan, L.D.2    Mengen, E.3


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