The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 2, 1999, Pages 567-572

  De Roux, Nicolas ^a   Young, Jacques ^a   Brailly Tabard, Sylvie ^a   Misrahi, Micheline ^a   Milgrom, Edwin ^a   Schaison, Gilbert ^a  

^a BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN; GONADORELIN RECEPTOR; TRIPTORELIN;

ADULT; AMENORRHEA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; GENE MUTATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IDIOPATHIC DISEASE; LUTEINIZING HORMONE RELEASE; MALE; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; DNA; FOLLICLE STIMULATING HORMONE; GONADOTROPIN-RELEASING HORMONE; HUMANS; HYPOGONADISM; KINETICS; LUTEINIZING HORMONE; MALE; MUTATION; PEDIGREE; PERIODICITY; RECEPTORS, LHRH; SEQUENCE ANALYSIS;

EID: 0033017005     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.2.567     Document Type: Article

References (13)

1. 1. Kakar SS, Musgrove LC, Devor DC, Sellers JC, Neill JD. 1992 Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor. Biochem Biophys Res Commun. 189:289-295.
2. 2. Fan NC, Jeung EB, Peng C, Olofsson JI, Krisinger J, Leung PC. 1994 The human gonadotropin-releasing hormone (GnRH) receptor gene: cloning, genomic organization and chromosomal assignment. Mol Cell Endocrinol. 103:R1-R6.
3. 3. Stojilkovic SS, Reinhart J, Catt KJ. 1994 Gonadotropin-releasing hormone receptors: structure and signal transduction pathways. Endocr Rev. 15:462-499.
4. 4. de Roux N, Young J, Misrahi M, et al. 1997 A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med. 337:1597-1602.
5. 5. Layman LC, Cohen DP, Jin M, et al. 1998 Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. Nat Genet. 18:14-15.
6. 6. Thomas G, Plu G, Thalabard JC. 1992 Identification of pulses in hormone time series using outlier detection methods. Stat Med. 11:2133-2145.
7. 7. Chanson P, Pantel J, Young J, Couzinet B, Bidart JM, Schaison G. 1997 Free luteinizing-hormone beta-subunit in normal subjects and patients with pituitary adenomas. J Clin Endocrinol Metab. 82:1397-1402.
8. 8. Baldwin JM. 1994 Structure and function of receptors coupled to G proteins. Curr Opin Cell Biol. 6:180-190.
9. 9. Unger VM, Hargrave PA, Baldwin JM, Schertler GF. 1997 Arrangement of rhodopsin transmembrane alpha-helices. Nature. 389:203-206.
10. 10. Zhou W, Rodic V, Kitanovic S, et al. 1995 A locus of the gonadotropin-releasing hormone receptor that differentiates agonist and antagonist binding sites. J Biol Chem. 270:18853-18857.
11. 11. Conchon S, Barrault MB, Miserey S, Corvol P, Clauser E. 1997 The C-terminal third intracellular loop of the rat AT1A angiotensin receptor plays a key role in G protein coupling specificity and transduction of the mitogenic signal. J Biol Chem. 272:25566-25572.
12. 12. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley Jr WF, Jameson JL. 1996 Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J Clin Invest. 98:1055-1062.
13. 13. Tougard C, Tixier-Vidal A. 1994 Lactotropes and gonadotropes. In: Knobil E, Neill JD, eds. The physiology of reproduction. New York: Raven Press; 1711-1747.