Brief report: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene

New England Journal of Medicine

Volumn 334, Issue 8, 1996, Pages 507-512

  Latronico, Ana C ^a   Anasti, James ^a   Arnhold, Ivo J P ^c   Rapaport, Robert ^b   Mendonca, Berenice B ^c   Bloise, Walter ^c   Castro, Margaret ^a   Tsigos, Constantine ^a   Chrousos, George P ^a,d  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b CHILDREN S HOSPITAL OF NEW JERSEY   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; GENE MUTATION; HORMONE ACTION; HORMONE RECEPTOR INTERACTION; HUMAN; HYPOGONADISM; LEYDIG CELL; MALE; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; RECEPTOR GENE; SEQUENCE ANALYSIS; SEX DIFFERENTIATION;

EID: 0030025051     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199602223340805     Document Type: Article

References (24)

1. Berthezène F, Forest MG, Grimaud JA, Claustrat B, Mornex R. Leydig-cell agenesis: a cause of male pseudohermaphroditism. N Engl J Med 1976;295: 969-72.
2. Schwartz M, Imperato-McGinley J, Peterson RE, et al Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. J Clin Endocrinol Metab 1981;53:123-7
3. David R, Yoon DJ, Landin L, et al. A syndrome of gonadotropin resistance possibly due to a luteinizing hormone receptor defect. J Clin Endocrinol Metab 1984;59:156-60.
4. Saldanha PH, Arnhold IJP, Mendonca BB, Bloise W, Toledo SPA A clinico-genetic investigation of Leydig cell hypoplasia. Am J Med Genet 1987;26: 337-44.
5. Arnhold IJP, Mendonca B, Bisi H, et al. Normal expression of the serologically defined H-Y antigen in Leydig cell hypoplasia. J Urol 1988;140:1549-52.
6. Magoffin DA, Gelety TJ, Magarelli PC. Follicular development: the role of LH. In: Filicori M, Flamigni C, eds Ovulation induction basic science and clinical advances Amsterdam: Excerpta Medica, 1994:25-36.
7. Minegishi T, Nakamura K, Takakura Y, et al. Cloning and sequencing of human LH/hCG receptor cDNA. Biochem Biophys Res Commun 1990;172: 1049-54. [Erratum, Biochem Biophys Res Commun 1994;201:1057.]
8. Kreiner H, Kraaij R, Toledo SPA, et al Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene Nat Genet 1995;9:160-4.
9. Latronico AC, Anasti J, Arnhold IJP, et al. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty J Clin Endocrinol Metab 1995;80 2490-4.
10. Kadowaki T, Kadowaki H, Taylor SI A nonsense mutation causing decreased levels of insulin receptor mRNA detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction. Proc Natl Acad Sci USA 1990;87:658-62.
11. Anasti JN, Flack MR, Froehlich S, Nelson LM, Nisula BC. A potential novel mechanism for precocious puberty in juvenile hypothyroidism J Clin Endocrinol Metab 1995;80:276-9.
12. Kosugi S, Okajima F, Ban T, Hidaka A, Shenker A, Kohn LD. Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3′,5′-cyclic adenosine monophosphate signal generation Mol Endocrinol 1993;7 1009-20.
13. Kosugi S, Ban T, Akamizu T, Kohn LD. Site-directed mutagenesis of a portion of extracellular domain of the rat thyrotropin receptor important in autoimmune thyroid disease and nonhomologous with gonadotropin receptors: relationship of functional and immunogenic domains. J Biol Chem 1991;266:19413-8.
14. Munson PJ, Rodbard D LIGAND: a versatile computerized approach for characterization of ligand-binding systems. Anal Biochem 1980;107:220-39
15. Brown RE, Jarvis KL, Hyland KJ Protein measurement using bicinchorionic acid, elimination of interfering substances. Anal Biochem 1989;180:136-9.
16. Oliveira L, Paiva ACM, Sander C, Vriend G A common step for signal transduction in G protein-coupled receptors. Trends Pharmacol Sci 1994; 15:170-2
17. Tsigos C, Arai K, Hung W, Chrousos GP. Hereditary isolated glucocorticoid deficiency associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;92:2458-61.
18. Tsigos C, Arai K, Latronico AC, DiGeorge AM, Rapaport R, Chrousos GP A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab 1995;80:2186-9.
19. Dryja TP, McGee TL, Hahn LB, et al Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990;323:1302-7
20. Merendino JJ Jr, Spiegel AM, Crawford JD, O'Carroll A-M, Brownstein MJ, Lolait SJ. A mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus. N Engl J Med 1993;328:1538-41.
21. Aaronson IA. Micropenis: medical and surgical implications. J Urol 1994; 152:4-14.
22. Rodriguez MC, Xie YB, Wang H, Collison K, Segaloff DL Effects of truncations of the cytoplasmic tail of the luteinizing hormone/chorionic gonadotropin receptor on receptor-mediated hormone internalization Mol Endocrinol 1992;6:327-36.
23. Segaloff DL, Ascoli M. The lutropin/choriogonadotropin receptor . . 4 years later. Endocr Rev 1993;14:324-47
24. Thomas DM, Segaloff DL. Hormone-binding properties and glycosylation pattern of a recombinant form of the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor expressed in mammalian cells Endocrinology 1994;135:1902-12.