title: Kisspeptin and clinical disorders.
abstract: The hypothalamic hormone GnRH has traditionally been viewed as a central driver of the hypothalamic-pituitary-gonadal axis. Pulsatile GnRH release is required for pulsatile gonadotropin secretion, which then modulates gonadal steroid feedback and brings about full fertility in the adult. Pathways governing GnRH ontogeny and physiology have been discovered by studying humans with disorders of GnRH secretion. In this chapter, the human genetics of the kisspeptin signaling pathway in patients with diverse reproductive phenotypes will be explored. The discovery of defects in the kisspeptin system in several reproductive disorders has shed light on the mechanisms involved in regulating GnRH secretion, revealing the critical role played by the kisspeptin signaling pathway in pubertal initiation and reproductive function.
authors.affiliation: Department of Internal Medicine, Sao Paulo University, Sao Paulo, Brazil. leticia_gontijo@yahoo.com.br
authors.forename: Letícia Gontijo
authors.initials: LG
authors.lastname: Silveira
authors.forename: Ana Claudia
authors.initials: AC
authors.lastname: Latronico
authors.forename: Stephanie Beth
authors.initials: SB
authors.lastname: Seminara
mesh_terms: D000328:Adult; D005260:Female; D005298:Fertility / Q000235:genetics; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000378:metabolism* / Q000473:pathology; D007246:Infertility / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D059648:Kisspeptins / Q000235:genetics / Q000378:metabolism*; D008297:Male; D015398:Signal Transduction
chemical_list: C106628:KISS1 protein, human; D059648:Kisspeptins
references.citation: Biochem Biophys Res Commun. 2003 Dec 26;312(4):1357-63
references.pmid: 14652023
references.citation: Eur J Neurosci. 2010 Jun;31(11):1984-98
references.pmid: 20529119
references.citation: BMC Res Notes. 2011 Sep 22;4:363
references.pmid: 21939553
references.citation: Endocrinology. 2005 Sep;146(9):3686-92
references.pmid: 15919741
references.citation: N Engl J Med. 2008 Feb 14;358(7):709-15
references.pmid: 18272894
references.citation: J Neuroendocrinol. 2008 Dec;20(12):1339-47
references.pmid: 19094081
references.citation: Arq Bras Endocrinol Metabol. 2008 Feb;52(1):18-31
references.pmid: 18345393
references.citation: Endocrinology. 2008 Nov;149(11):5770-82
references.pmid: 18617612
references.citation: J Neurosci. 2006 Jun 21;26(25):6687-94
references.pmid: 16793876
references.citation: Endocrinology. 2005 Oct;146(10):4431-6
references.pmid: 15976058
references.citation: Gen Comp Endocrinol. 2008 May 1;156(3):552-8
references.pmid: 18405899
references.citation: N Engl J Med. 2007 Aug 30;357(9):863-73
references.pmid: 17761590
references.citation: N Engl J Med. 2003 Oct 23;349(17):1614-27
references.pmid: 14573733
references.citation: J Clin Endocrinol Metab. 1980 Jul;51(1):173-5
references.pmid: 6247361
references.citation: J Neuroendocrinol. 2006 Apr;18(4):298-303
references.pmid: 16503925
references.citation: J Clin Endocrinol Metab. 2011 Nov;96(11):E1771-81
references.pmid: 21880801
references.citation: Science. 2002 Mar 22;295(5563):2262-4
references.pmid: 11910110
references.citation: J Neuroendocrinol. 2009 Dec;21(12):1007-14
references.pmid: 19840238
references.citation: Mol Hum Reprod. 2007 Mar;13(3):165-70
references.pmid: 17213338
references.citation: Hum Reprod. 2008 Oct;23(10):2380-4
references.pmid: 18596028
references.citation: J Clin Endocrinol Metab. 2007 Mar;92(3):1137-44
references.pmid: 17164310
references.citation: Eur J Endocrinol. 2007 Mar;156(3):285-90
references.pmid: 17322486
references.citation: Endocrinology. 2005 Jul;146(7):2976-84
references.pmid: 15831567
references.citation: Mol Cell Endocrinol. 2006 Jul 25;254-255:70-7
references.pmid: 16757106
references.citation: Endocrinology. 2011 Apr;152(4):1616-26
references.pmid: 21285314
references.citation: Arch Dis Child. 1999 Mar;80(3):231-4
references.pmid: 10325702
references.citation: Proc Natl Acad Sci U S A. 2005 Feb 8;102(6):2129-34
references.pmid: 15684075
references.citation: Mol Carcinog. 1996 Apr;15(4):284-99
references.pmid: 8634087
references.citation: Diabetes. 2006 Sep;55(9):2602-10
references.pmid: 16936210
references.citation: Neuroendocrinology. 2004;80(4):264-72
references.pmid: 15665556
references.citation: Eur J Endocrinol. 2010 Jul;163(1):29-34
references.pmid: 20371656
references.citation: Nat Genet. 2009 Mar;41(3):354-358
references.pmid: 19079066
references.citation: J Clin Endocrinol Metab. 2011 Mar;96(3):E536-45
references.pmid: 21193544
references.citation: Science. 2002 Mar 22;295(5563):2258-61
references.pmid: 11910109
references.citation: Endocrinology. 2007 Mar;148(3):1158-66
references.pmid: 17185375
references.citation: Neuroendocrinology. 2009;90(3):283-91
references.pmid: 19590160
references.citation: J Neuroendocrinol. 2010 Feb;22(2):110-8
references.pmid: 20002963
references.citation: Endocrinology. 2012 Mar;153(3):1498-508
references.pmid: 22253416
references.citation: Cancer Res. 1997 Jun 15;57(12):2384-7
references.pmid: 9192814
references.citation: Eur J Endocrinol. 2005 Dec;153(6):845-52
references.pmid: 16322390
references.citation: Proc Natl Acad Sci U S A. 2010 Aug 24;107(34):15140-4
references.pmid: 20696889
references.citation: Science. 1984 Aug 31;225(4665):949-51
references.pmid: 6382608
references.citation: Fertil Steril. 2002 Jun;77(6):1288-91
references.pmid: 12057744
references.citation: Placenta. 2012 May;33(5):408-15
references.pmid: 22349353
references.citation: J Cell Sci. 2004 Mar 15;117(Pt 8):1319-28
references.pmid: 15020672
references.citation: Mol Cell Endocrinol. 2011 Oct 22;346(1-2):29-36
references.pmid: 21704672
references.citation: Endocrinology. 2004 Sep;145(9):4073-7
references.pmid: 15217982
references.citation: Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10714-9
references.pmid: 17563351
references.citation: Endocrinology. 2007 Oct;148(10):4927-36
references.pmid: 17595229
references.citation: Nat Neurosci. 2011 Jun;14(6):704-10
references.pmid: 21516099
references.citation: J Clin Endocrinol Metab. 2004 Apr;89(4):1794-800
references.pmid: 15070947
references.citation: Cell. 2001 Jan 26;104(2):173-6
references.pmid: 11207359
references.citation: J Clin Endocrinol Metab. 2001 Jun;86(6):2470-5
references.pmid: 11397842
references.citation: Endocrinology. 2004 Oct;145(10):4565-74
references.pmid: 15242985
references.citation: J Clin Endocrinol Metab. 2001 Jun;86(6):2364-8
references.pmid: 11397824
references.citation: Semin Reprod Med. 2003 Nov;21(4):339-51
references.pmid: 14724767
references.citation: Peptides. 2009 Jan;30(1):111-22
references.pmid: 18614256
references.citation: J Neuroendocrinol. 2009 Dec;21(12):1015-23
references.pmid: 19840236
references.citation: Hum Mutat. 2005 Jan;25(1):98-9
references.pmid: 15605412
references.citation: J Clin Endocrinol Metab. 2003 Jun;88(6):2730-7
references.pmid: 12788881
references.citation: N Engl J Med. 2012 Feb 16;366(7):629-35
references.pmid: 22335740
references.citation: Neuroendocrinology. 2013;97(2):193-202
references.pmid: 22377698
references.citation: N Engl J Med. 1982 Nov 11;307(20):1237-41
references.pmid: 6813732
references.citation: J Clin Endocrinol Metab. 2010 Jun;95(6):2857-67
references.pmid: 20332248
references.citation: Proc Natl Acad Sci U S A. 2003 Sep 16;100(19):10972-6
references.pmid: 12944565
references.citation: Endocr J. 2010;57(8):701-9
references.pmid: 20631455
references.citation: J Clin Endocrinol Metab. 2005 Mar;90(3):1317-22
references.pmid: 15613419
references.citation: Clin Endocrinol (Oxf). 2002 Feb;56(2):129-48
references.pmid: 11874402
references.citation: Endocrinology. 1984 May;114(5):1938-40
references.pmid: 6370670
references.citation: Endocrinology. 2007 Dec;148(12):5752-60
references.pmid: 17823266
references.citation: Horm Res Paediatr. 2010;73(5):312-9
references.pmid: 20389100
references.citation: J Clin Endocrinol Metab. 2010 May;95(5):2276-80
references.pmid: 20237166
references.citation: J Clin Endocrinol Metab. 2005 Mar;90(3):1849-55
references.pmid: 15598687
references.citation: J Neuroendocrinol. 2007 Jun;19(6):432-8
references.pmid: 17504437