Genetics of hypogonadotropic hypogonadism

Hormone Research

Volumn 67, Issue SUPPL. 1, 2007, Pages 149-154

  Simoni, Manuela ^a,b   Nieschlag, Eberhard ^a  

^a INST OF REPRO MED OF THE UNIV   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Fibroblast growth factor receptor 1; G protein coupled receptor 54; Gonadotropin releasing hormone receptor; Hypogonadotropic hypogonadism; KAL1

Indexed keywords

ANOSMIN 1; FIBROBLAST GROWTH FACTOR RECEPTOR 1; G PROTEIN COUPLED RECEPTOR; GONADORELIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ANOSMIA; AUTOSOMAL DOMINANT INHERITANCE; CELL MIGRATION; CONFERENCE PAPER; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; GONADOTROPIN RELEASE; HORMONE RELEASE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS; KALLMANN SYNDROME; NERVE CELL; NONHUMAN; OLFACTORY EPITHELIUM; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 33847080730     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000097572     Document Type: Article

References (24)

1. Behre HM, Nieschlag E, Meschede D, Partsch CJ: Diseases of the hypothalamus and the pituitary gland; in Nieschlag E, Beher HM (eds): Andrology. Male Reproductive Health and Dysfunction. Berlin, Springer, 2000, ed 2, pp 125-142.
2. Schwanzel-Fukuda M, Bick D, Pfaff DW: Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Res Mol Brain Res 1989;6:311-326.
3. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, et al: A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991;353:529-536.
4. de Roux N, Young J, Misrahi M, Genet R, Chanson P, Schaison G, Milgrom E: A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med 1997;337:1597-1602.
5. Dodè C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP: Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003;33:463-465.
6. de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E: Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci USA 2003;100:10972-10976.
7. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS Jr, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF Jr, Aparicio SA, Colledge WH: The GPR54 gene as a regulator of puberty. N Engl J Med 2003;349:1614-1627.
8. Matsumoto S, Yamazaki C, Masumoto KH, Nagano M, Naito M, Soga T, Hiyama H, Matsumoto M, Takasaki J, Kamohara M, Matsuo A, Ishii H, Kobori M, Katoh M, Matsushime H, Furuichi K, Shigeyoshi Y: Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci USA 2006;103:4140-4145.
9. Yoon H, Enquist LW, Dulac C: Olfactory inputs to hypothalamic neurons controlling reproduction and fertility. Cell 2005;123:669-682.
10. Boehm U, Zou Z, Buck LB: Feedback loops link odor and pheromone signaling with reproduction. Cell 2005;123:683-695.
11. Kalmann FJ, Schoenfeld WA, Barrera SE: The genetic aspects of primary eunuchoidism. Am J Ment Defic 1944;48:203-236.
12. Dodè C, Hardelin JP: Kallmann syndrome: fibroblast growth factor signaling insufficiency? J Mol Med 2004;82:725-734.
13. Hebert JM, Lin M, Partanen J, Rossant J, McConnell SK: FGF signaling through FGFR1 is required for olfactory bulb morphogenesis. Development 2003;130:1101-1111.
14. de Roux N: Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis. Horm Res 2005;64 (suppl 2):48-55.
15. Pitteloud N, Acierno JS Jr, Meysing AU, Dwyer AA, Hayes FJ, Crowley WF Jr: 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 2005;90:1317-1322.
16. Lanfranco F, Gromoll J, von Eckardstein S, Herding EM, Nieschlag E, Simoni M: Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. Eur J Endocrinol 2005;153:845-852.
17. Karges B, Karges W, de Roux N: Clinical and molecular genetics of the human GnRH receptor. Hum Reprod Update 2003;9:523-530.
18. Bedecarrats GY, Linher KD, Janovick JA, Beranova M, Kada F, Seminara SB, Michael Conn P, Kaiser UB: Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function. Mol Cell Endocrinol 2003;205:51-64.
19. Sedlmeyer IL, Pearce CL, Trueman JA, Butler JL, Bersaglieri T, Read AP, Clayton PE, Kolonel LN, Henderson BE, Hirschhorn JN, Palmert MR: 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.
20. Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'Rahilly S, Aparicio SA: Two novel missense mutations in G protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J Clin Endocrinol Metab 2005;90:1849-1855.
21. Dungan HM, Clifton DK, Steiner RA: Minireview: kisspeptin neurons as central processors in the regulation of gonadotropin-releasing hormone secretion. Endocrinology 2006;147:1154-1158.
22. Irwig MS, Fraley GS, Smith JT, Acohido BV, Popa SM, Cunningham MJ, Gottsch ML, Clifton DK, Steiner RA: Kisspeptin activation of gonadotropin releasing hormone neurons and regulation of KiSS-1 mRNA in the male rat. Neuroendocrinology 2004;80:264-272.
23. Dhillo WS, Chaudhri OB, Patterson M, Thompson EL, Murphy KG, Badman MK, McGowan BM, Amber V, Patel S, Ghatei MA, Bloom SR: Kisspeptin-54 stimulates the hypothalamic-pituitary gonadal axis in human males. J Clin Endocrinol Metab 2005;90:6609-6615.
24. Kaiser UB, Kuohung W: KiSS-1 and GPR54 as new players in gonadotropin regulation and puberty. Endocrine 2005;26:277-284.