Resistance to Growth Hormone Releasing Hormone and Gonadotropins in Albright's Hereditary Osteodystrophy

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue , 2006, Pages 663-670

  Mantovani, Giovanna ^a   Spada, Anna ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

Gs ; multihormone resistance; mutations; pseudohypoparathyroidism type la

Indexed keywords

FOLLITROPIN; GONADOTROPIN; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; HYDROCORTISONE; LUTEINIZING HORMONE; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; THYROTROPIN; THYROTROPIN RECEPTOR;

ALBRIGHT SYNDROME; CLINICAL TRIAL; DISEASE CLASSIFICATION; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HETEROZYGOSITY; HORMONE RESISTANCE; HORMONE SUBSTITUTION; HUMAN; HYPOCALCEMIA; HYPOTHYROIDISM; INCIDENCE; OVARY INSUFFICIENCY; PATHOGENESIS; PSEUDOHYPOPARATHYROIDISM; QUALITY OF LIFE; REVIEW; SIGNAL TRANSDUCTION;

FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GONADOTROPINS; GROWTH HORMONE; GROWTH HORMONE-RELEASING HORMONE; HUMANS; HYPOGONADISM; INHERITANCE PATTERNS; MALE; PSEUDOHYPOPARATHYROIDISM; THYROTROPIN;

EID: 33745272582     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.S2.663     Document Type: Article

References (61)

1. Albright F, Burnett CH, Smith PH, Parson W. Pseudohypoparathyroidism-an exemple of “Seabright Bantam syndrome”. Endocrinology 1942; 30: 922-932.
2. Weinstein LS. Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. In: Spiegel AM, ed. G Proteins, Receptors, and Disease. Totowa, NJ: Humana Press, 1998; 23-56.
3. Aldred MA, Trembath RC. Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 2000; 16: 183-189.
4. Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha subunit mutations and the role of genomic imprinting. Endocr Rev 2001; 22: 675-705.
5. Lania A, Mantovani G, Spada A. G protein mutations in endocrine diseases. Eur J Endocrinol 2001; 145: 543-559.
6. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type la: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab 2003; 88: 4070-4074.
7. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type la: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003; 88: 4059-4069.
8. Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA, Van Dop C. Pseudohypoparthyroidism type la from maternal but not paternal transmission of a Gsα gene mutation. Am J Med Genet 1998; 77: 261-267.
9. Weinstein LS, Yu S. The role of genomic imprinting of Gsα in the pathogenesis of Albright's hereditary osteodystrophy. Trends Endocrinol Metab 1999; 10: 81-85.
10. Bartolomei MS, Tilgham SM. Genomic imprinting in mammals. Annu Rev Genet 1997; 31: 493-525.
11. Polychronakos C, Kukuvitis A. Parental genomic imprinting in endocrinopathies. Eur J Endocrinol 2002; 147: 561-569.
12. Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc Natl Acad Sci USA 1998; 95: 8715-8720.
13. Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 1998; 95: 10038-10043.
14. Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally and biallelically derived proteins. Proc Natl Acad Sci USA 1998; 95: 15475-15480.
15. Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G. A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 1999; 96: 3830-3835.
16. Liu J, Yu S, Litman D, Chen W, Weinstein LS. Identification of a methylation imprint mark within the mouse Gnas locus. Mol Cell Biol 2000; 20: 5808-5817.
17. Farfel Z, Brickman AS, Kaslow HR, Kaslow VM, Bourne HR. Defect of receptor-cyclase coupling protein in patients with pseudohypoparathyroidism. N Engl J Med 1980; 303: 237-242.
18. Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983; 74: 545-556.
19. Levine MA, Downs RW, Singer M, Marx SJ, Aurbach GD, Spiegel AM. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 1980; 94: 1319-1324.
20. Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT. Imprinting of the Gs α gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 2001; 107: R31-R36.
21. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002; 87: 4736-4740.
22. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA. Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type la. Biochem Biophys Res Commun 2002; 296: 67-72.
23. Zhu X, Gilbert S, Birnbaumer M, Birnbaumer L. Dual signaling potential is common among Gs-coupled receptors and dependent on receptor density. Mol Pharmacol 1994; 46: 460-469.
24. Gudermann T, Birnbaumer M, Birnbaumer L. Evidence for dual coupling of the murine luteinizing hormone receptor to adenylyl cyclase and phosphoinositide breakdown and Ca2+ mobilization. Studies with the cloned murine luteinizing hormone receptor expressed in L cells. J Biol Chem 1992; 267: 4479-4488.
25. Gudermann T, Nichols C, Levy FO, Birnbaumer M, Birnbaumer L. Ca2+ mobilization by the LH receptor expressed in Xenopus oocytes independent of 3′,5′- cyclic adenosine monophosphate formation: evidence for parallel activation of two signaling pathways. Mol Endocrinol 1992; 6: 272-278.
26. Schwindinger WF, Francomano CA, Levine MA. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 1992; 89: 5152-5156.
27. 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: 1688-1695.
28. Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein Gs. J Pediatr 1993; 123: 509-518.
29. Iiri T, Herzmark P, Nakamoto JM, van Dop C, Bourne HR. Rapid GDP release from Gsα in patients with gain and loss of endocrine function. Nature 1994; 371: 164-168.
30. Nakamoto JM, Zimmerman D, Jones EA, Loke KY, Siddiq K, Donlan MA, Brickman AS, Van Dop C. Concurrent hormone resistance (pseudohypoparathyroidism type la) and hormone independence (testotoxicosis) caused by a unique mutation in the Gαs gene. Biochem Mol Med 1996; 58: 18-24.
31. Wolfsdorf JI, Rosenfield RL, Fang VS, Kobayashi R, Razdan AK, Kim MH. Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol (Copenh) 1978; 88: 321-328.
32. Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H, Saito T. Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type la. Eur J Pediatr 1988; 147: 536-538.
33. Shapiro MS, Bernheim J, Gutman A, Arber I, Spitz IM. Multiple abnormalities of anterior pituitary hormone secretion in association with pseudohypoparathyroidism. J Clin Endocrinol Metab 1980; 51: 483-487.
34. Namnoum AB, Merriam GR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1998; 83: 824-829.
35. Halal F, Van Dop C, Lord J. Differential diagnosis in young women with oligomenorrhea and the pseudopseudohypoparathyroidism variant of Albright's hereditary osteodystrophy. Am J Med Genet 1985; 21: 551-568.
36. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 2000; 85: 4243-4248.
37. de Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scire G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, de Sanctis C, Dianzani I. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 2003; 53: 749-755.
38. Faull CM, Welbury RR, Paul B, Kendall-Taylor P. Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med 1991; 78: 251-264.
39. Schuster V, Eschenhagen T, Kruse K, Gierschik P, Kreth HW. Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy. Eur J Pediatr 1993; 152: 185-189.
40. Carlson HE, Brickman AS, Bottazzo GF. Prolactin deficiency in pseudohypoparathyroidism. N Engl J Med 1977; 296: 140-144.
41. Brickman AS, Carlson HE, Deftos LJ. Prolactin and calcitonin responses to parathyroid hormone infusion in hypoparathyroid, pseudohypoparathyroid, and normal subjects. J Clin Endocrinol Metab 1981; 5: 661-664.
42. Kruse K, Gutekunst B, Kracht U, Schwerda K. Deficient prolactin response to parathyroid hormone in hypocalcemic and normocalcemic pseudohypoparathyroidism. J Clin Endocrinol Metab 1981; 52: 1099-1105.
43. Scott DC, Hung W. Pseudohypoparathyroidism type la and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 1995; 8: 205-207.
44. Kaji M, Umeda K, Ashida M, Tajima T. A case of pseudohypoparathyroidism type la complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy. Eur J Pediatr 2001; 160: 679-681.
45. Abdenur JE, Solans CV, Smith MM, Carman C, Pughliese MT, Lifshitz F. Body composition and spontaneous growth hormone secretion in normal short stature children. J Clin Endocrinol Metab 1994; 78: 277-282.
46. Loche S, Pintor C, Cappa M, Ghigo E, Ruggini R, Muller EE. Pyridostigmine counteracts the blunted GH response to GHRH of obese children. Acta Endocrinol 1989; 120: 624-628.
47. Dickstein G, Shechner C, Nicholson WE, Rosner I, Shen-Orr Z, Adawi F, Lahav M. Adrenocorticotropin stimulation test: effects of basal cortisol level, time of day and suggested new sensitive low dose test. J Clin Endocrinol Metab 1991; 72: 773-778.
48. Ambrosi B, Barbetta L, Re T, Passini E, Faglia G. The one microgram adrenocorticotropin test in the assessment of hypothalamic-pituitary-adrenal function. Eur J Endocrinol 1998; 139: 575-579.
49. Tsai KS, Chang CC, Wu DJ, Huang TS, Tsai IH, Chen FW. Deficient erythrocyte membrane Gsα activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism. Taiwan Yi Xue Hui Za Zhi 1989; 88: 450-455.
50. Horvath E, Kovacs K. Fine structural cytology of the adenohypophysis in rat and man. J Electron Microsc Tech 1988; 8: 401-432.
51. Wu WI, Schwindinger WF, Aparicio LF, Levine MA. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gsα: a cause of pseudohypoparathyroidism type lb. J Biol Chem 2001; 276: 165-171.
52. Kehlenbach RH, Matthey J, Huttner WB. XLαs is a new type of G protein. Nature 1994; 372: 804-809.
53. Pasolli HA, Klemke M, Kehlenbach RH, Wang Y, Huttner WB. Characterization of the extra-large G protein alpha-subunit XLαs. I. Tissue distribution and subcellular localization. J Biol Chem 2000; 275: 33622-33632.
54. Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Juppner H. Receptor-mediated adenylyl cyclase activation through XLαs, the extra-large variant of the stimulatory G protein α-subunit. Mol Endocrinol 2002; 16: 1912-1919.
55. Liu J, Erlichman B, Weinstein LS. The stimulatory G protein α-subunit Gsα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and IB, J Clin Endocrinol Metab 2003; 88: 4336-4341.
56. Mantovani G, Bondioni S, Locatelli M, Pedroni C, Lania AG, Ferrante E, Filopanti M, Beck-Peccoz P, Spada A. Biallelic expression of the Gsα gene in human bone and adipose tissue. J Clin Endocrinol Metab 2004; 89. 6316-6319.
57. Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Juppner H, Kronenberg HM, Chung UI. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci USA 2004; 101: 14794-14799.
58. Shalet SM, Rahim A, Toogood AA. Growth hormone therapy for adult growth hormone deficiency. Trends Endocrinol Metab 1996; 7: 287-290.
59. Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet 2001; 2: 21-32.
60. Morison IM, Eccles MR, Reeve AE. Imprinting of insulin-like growth factor 2 is modulated during hematopoiesis. Blood 2000; 96: 3023-3028.
61. Weinstein LS. Editorial: The stimulatory G protein alpha-subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metab 2001; 86: 4622-4626.