Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor

New England Journal of Medicine

Volumn 341, Issue 23, 1999, Pages 1731-1736

  Liu, Guoquan ^a   Duranteau, Lise ^a   Carel, Jean Claude ^b   Monroe, Jason ^a   Doyle, Daniel A ^c   Shenker, Andrew ^a,d  

^a NORTHWESTERN UNIVERSITY   (United States)

^b Grp Hosp Cochin S Vincent de Paul ^*  (France)

^c TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHILDREN'S MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; GONADORELIN; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

ADENOMA; ARTICLE; CASE REPORT; DNA SEQUENCE; ECHOGRAPHY; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEYDIG CELL TUMOR; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CYCLIC AMP; HUMANS; INOSITOL PHOSPHATES; LEYDIG CELL TUMOR; MALE; MUTATION; PUBERTY, PRECOCIOUS; RECEPTORS, LH; TESTICULAR NEOPLASMS; TESTIS;

EID: 0033518280     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199912023412304     Document Type: Article

References (36)

1. Segaloff DL, Ascoli M. The lutropin/choriogonadotropin receptor . . . 4 years later. Endocr Rev 1993;14:324-47.
2. Themmen APN, Brunner HG. Luteinizing hormone receptor mutations and sex differentiation. Eur J Endocrinol 1996;134:533-40.
3. Chan W-Y. Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations. Mol Genet Metab 1998;63:75-84.
4. Dufau ML. The luteinizing hormone receptor. Annu Rev Physiol 1998; 60:461-96.
5. Lejeune H, Haben R, Saez JM. Origin, proliferation and differentiation of Leydig cells. J Mol Endocrinol 1998;20:1-25.
6. i proteins in dual coupling of the luteinizing hormone receptor to adenylyl cyclase and phospholipase C. J Biol Chem 1996; 271:16764-72.
7. Latronico AC, Anasti J, Arnhold IJP, et al. Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene. N Engl J Med 1996;334:507-12.
8. Shenker A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993;365:652-4.
9. Laue L, Chan W-Y, Hsueh AJW, et al. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci U S A 1995;92:1906-10.
10. Kim I, Young RH, Scully RE. Leydig cell tumors of the testis: a clinicopathological analysis of 40 cases and review of the literature. Am J Surg Pathol 1985;9:177-92.
11. Scully RE. Testicular tumors with endocrine manifestations. In: De-Groot LJ, ed. Endocrinology. 3rd ed. Philadelphia: W.B. Saunders, 1995: 2442-8.
12. Huseby RA. Leydig cell neoplasia. In: Payne AH, Hardy MP, Russell LD, eds. The Leydig cell. Vienna, Ill.: Cache River Press, 1996:555-71.
13. Paschke R, Ludgate M. The thyrotropin receptor in thyroid diseases. N Engl J Med 1997;337:1675-81.
14. 6α genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 1997;82:2695-701.
15. Greulich WW, Pyle SI. Radiographic atlas of skeletal development of the hand and wrist. 2nd ed. Stanford, Calif.: Stanford University Press, 1959.
16. Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child 1970;45:13-23.
17. Sarkar FH, Li YW, Crissman JD. A method for PCR sequencing of the p53 gene from a single 10-microns frozen or paraffin-embedded tissue section. Biotechniques 1993;15:36-8.
18. Atger M, Misrahi M, Sar S, Le Flem L, Dessen P, Milgrom E. Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5′ non-coding regions. Mol Cell Endocrinol 1995;111:113-23.
19. 578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor. J Biol Chem 1996;271:31813-7.
20. McCluggage WG, Shanks JH, Arthur K, Banerjee SS. Cellular proliferation and nuclear ploidy assessments augment established prognostic factors in predicting malignancy in testicular Leydig cell tumours. Histopathology 1998;33:361-8.
21. 578→Tyr mutation of the lutrophin/choriogonadoctophin receptor gene. J Med Genet 1998;35:340-1.
22. Wilson BE, Netzloff ML. Primary testicular abnormalities causing precocious puberty Leydig cell tumor, Leydig cell hyperplasia, and adrenal rest tumor. Ann Clin Lab Sci 1983;13:315-20.
23. Holland FJ. Gonadotropin-independent precocious puberty. Endocrinol Metab Clin North Am 1991;20:191-210.
24. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991;325:1688-95.
25. Spiegel AM. Mutations in G proteins and G protein-coupled receptors in endocrine disease. J Clin Endocrinol Metab 1996;81:2434-42.
26. Clegg ED, Cook JC, Chapin RE, Foster PMD, Daston GP. Leydig cell hyperplasia and adenoma formation: mechanisms and relevance to humans. Reprod Toxicol 1997;11:107-21.
27. Naughton CK, Nadler RB, Basler JW, Humphrey PA. Leydig cell hyperplasia. Br J Urol 1998;81:282-9.
28. Martin MM, Wu S-M, Martin ALA, Rennert OM, Chan W-Y. Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor. Eur J Endocrinol 1998;139:101-6.
29. Matzuk MM, Finegold MJ, Mishina Y, Bradley A, Behringer RR. Synergistic effects of inhibins and mullerian-inhibiting substance on testicular tumorigenesis. Mol Endocrinol 1995;9:1337-45.
30. Wu N, Murono EP. Temperature and germ cell regulation of Leydig cell proliferation stimulated by Sertoli cell-secreted mitogenic factor: a possible role in cryptorchidism. Andrologia 1996;28:247-57.
31. Fragoso MCBV, Latronico AC, Carvalho FM, et al. Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. J Clin Endocrinol Metab 1998;83:2074-8.
32. Studer H, Derwahl M. Mechanisms of nonneoplastic endocrine hyperplasia - a changing concept: a review focused on the thyroid gland. Endocr Rev 1995;16:411-26.
33. 1B-adrenergic receptor transgene promotes malignant transformation of thyroid follicular cells. Endocrinology 1997;138:369-78.
34. Russo D, Tumino S, Arturi F, et al. Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma. J Clin Endocrinol Metab 1997;82:735-8.
35. Moolenaar WH. G-protein-coupled receptors, phosphoinositide hydrolysis, and cell proliferation. Cell Growth Differ 1991;2:359-64.
36. van Biesen T, Luttrell LM, Hawes BE, Lefkowitz RJ. Mitogenic signaling via G protein-coupled receptors. Endocr Rev 1996;17:698-714.