A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 2, 1998, Pages 476-480

  Gromoll, Jörg ^a   Partsch, Carl Joachim ^b   Simoni, Manuela ^a   Nordhoff, Verena ^a   Sippell, Wolfgang G ^b   Nieschlag, Eberhard ^a   Saxena, Brij B ^a,c  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN AGONIST; HORMONE RECEPTOR; KETOCONAZOLE; LUTEINIZING HORMONE; LUTEINIZING HORMONE RECEPTOR; TESTOSTERONE;

ARTICLE; CASE REPORT; EXON; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; MALE; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SEXUAL DEVELOPMENT; SIGNAL TRANSDUCTION; TESTOSTERONE BLOOD LEVEL;

EID: 0031790098     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.83.2.4579     Document Type: Article

References (34)

1. Mathews CH, Borgato S, Beck-Peccoz P, et al. 1993 Primary amenorrhoea and infertility due to a mutation in the β-subunit of follicle stimulating hormone. Nat Genet. 5:83-86.
2. Weiss J, Axelrod L, Whitcomb RW, Harris PE, Crowley WF, Jameson JL. 1992 Hypogonadism caused by a single amino acid substitution in the β subgnit of luteinizing hormone. N Engl J Med. 326:179-183.
3. Segaloff DL, Ascoli M. 1993 The lutropin/choriogonadotropin receptor. . . 4 years later. Endocr Rev. 14:324-347.
4. Gromoll J, Pekel E, Nieschlag E. 1996 The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene. Genomics. 35:308-311.
5. Rozell TG, Wang H, Liu X, Segaloff DL. 1995 Intracellular retention of mutant gonadotropin receptors results in loss of hormone binding activity of the follitropin receptor but not the lutropin/choriogonadotropin receptor. Mol Endocrinol. 9:1727-1736.
6. Abell A, Liu X, Segaloff DL. 1996 Deletions of portions of the extracellular loops of the lutropin/choriogonadotropin receptor decrease the binding affinity of ovine luteinizing hormone, but not human choriogonadotropin, by preventing the formation of mature surface receptor. J Biol Chem. 271:4518-4527.
7. Gromoll J, Simoni M, Nieschlag E. 1996 An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab. 81:1367-1370.
8. Schedewie HK, Reiter EO, Beitins IZ, et al. 1981 Testicular Leydig cell hyperplasia as a cause of familial sexual precocity. J Clin Endocrinol Metab. 52:271-278.
9. Rosenthal SM, Grumbach MM, Kaplan SL. 1983 Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxcocis): effects of a potent lutenizing hormone-releasing factor agonist and medroxyprogestrone acetate therapy in four cases. J Clin Endocrinol Metab. 5:7571-579.
10. Egli CA, Rosenthal SM, Grumbach MM, Montalvo JM, Gondos B. 1985 Pituitary gonadotropin-independent male-limited autosomal dominant sexual precocity in nine generations: familial testotoxicosis. J Pediatr. 106:33-40.
11. Shenker A, Laue L, Kosugi S, Merendino Jr JJ, Minegishi T, Cutler Jr GB. 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature. 365:652-654.
12. Themmen APN, Brunner HG. 1996 Luteinizing hormone receptor mutations and sex differentiation. Eur J Endocrinol. 134:533-540.
13. Laue L, Chan WY, Hsueh AJW, et al. 1995 Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA. 92:1906-1910.
14. Yano K, Hidaka A, Saji M, et al. 1994 A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab. 79:1818-1823.
15. Greulich WW, Pyle I. 1959 Radiographic atlas of skeletal development of the hand and wrist. Stanford: Stanford University Press.
16. Bayley N, Pinneau SR. 1952 Tables for predicting adult height from skeletal age: evidence for use with Greulich-Pyle hand standards. J Pediatr. 40:423-441.
17. WHO. 1992 Laboratory manual for the examination of the human semen and semen-cervical mucus interaction, 3rd ed. Cambridge: Cambridge University Press.
18. Atger M, Misrahi M, Sar S, Le Flem L Dessen P, Milgrom E. 1995 Structure of human luteinizing-choriogonadotropin receptor gene: usual promoter and 5′non-coding regions. Mol Cell Endocrinol. 111:113-123.
19. Brooker G, Harper JF, Tarasaki WL, Moylan RD. 1979 Radioimmunoassay of cyclic AMP and cyclic GMP. Adv Cyclic Nucleotide Res. 10:1-33.
20. Kremer H, Mariman E, Otten BJ, et al. 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty. Mol Genet. 2:1779-1783.
21. Holland FJ, Kirsch SE, Selby R. 1987 Gonadotropin-independent precocious puberty ("testotoxicosis"): influence of maturarional status on response to ketoconazole. J Clin Endocrinol Metab. 64:328-333.
22. Babovic-Vuksanovic D, Donaldson MD, Gibson NA, Wallace AM. 1994 Hazards of ketoconazole therapy in testotoxicosis. Acta Paediatr. 83:994-997.
23. Laue L, Jones J, Barnes KM, Cutler Jr GB. 1993 Treatment of familial male precocious puberty with spironolactone, testolactone, and deslorelin. J Clin Endocrinol Metab. 76:151-155.
24. Boepple PA, Frisch LS, Wierman WE, Hoffman WH, Crowley Jr FW. 1992 The natural history of autonomous gonadal function, adrenarche, and central puberty in gonadotropin-independent precocious puberty. J Clin Endocrinol Metab. 75:1550-1555.
25. Rabl W, Knorr D, Bidlingmaier F, Butenandt O, Mann K. 1986 Familial male precocious puberty in 3 generations. Acta Endocrinol. 174(Suppl):2-3.
26. Rabl W, Strom TM, Knorr D, et al. 1994 Familial male precocious puberty (FMPP): clinical and molecular genetic heterogeneity in 2 kindreds [Abstract 226]. Horm Res. 41:113.
27. Reiter EO, Brown RS, Longcope C, Beitins IZ. 1984 Male-limited familial precocious puberty in three generations. Apparent Leydig-cell automomy and elevated glycoprotein hormone alpha subunit. N Engl J Med. 311:515-519.
28. Foster CM, Comite F, Pescovitz OH, Ross JL, Loriaux DL, Cutler Jr GB. 1984 Variable response to a long-acting analog of LHRH in girls with McCune-Albright syndrome. J Clin Endocrinol Metab. 59:801-805.
29. Pescovitz OH, Comite F, Hench K, et al. 1986 The NIH experience with precocious puberty: diagnostic subgroups and response to short-term luteinizing hormone releasing hormone analogue therapy. J Pediatr. 108:47-54.
30. Pescovitz OH, Hench K, Green O, Comite F, Loriaux DL, Cutler Jr GB. 1985 Central precocious puberty complicating a virilizing adrenal tumor: treatment with a long-acting LHRH analogue. J Pediatr. 106:612-614.
31. Hauser F, Nothacker HP, Grimmelikhuijzen JP. 1497 Molecular cloning, genomic organization and developmental regulation of a novel receptor from Drosophila melanogaster structurally related to members of the thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone/choriogonadotropin receptor family from mammals. J Biol Chem. 272:1002-1010.
32. Tensen CP, Van Kesteren ER, Planta RJ, et al. 1994 A G protein-coupled receptor with low density lipoprotein-binding motifs suggests a role for lipoproteins in G-linked signal transduction. Proc Natl Acad Sci USA. 91:4816-4820.
33. Nothacker HP, Grimmelikhuijzen CJ. 1993 Molecular cloning of a novel, putative G protein-coupled receptor from sea anemones structurally related to members of the FSH, TSH, LH/CG receptor family from mammals. Biochem Biophys Res Comun. 197:1062-1069.
34. Baldwin JM. 1993 The probable arrangement of the helices in G protein-coupled receptors. EMBO J. 12:1693-1703.