Clinical Spectrum and Pathogenesis of Pseudohypoparathyroidism

Reviews in Endocrine and Metabolic Disorders

Volumn 1, Issue 4, 2000, Pages 265-274

  Levine, Michael A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Adenylyl cyclase; G proteins; Hormone resistance; Imprinting; Pseudohypoparathyroidism

Indexed keywords

PARATHYROID HORMONE;

ANIMAL; HUMAN; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; REVIEW;

ANIMALS; HUMANS; PARATHYROID HORMONE; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM;

EID: 0034332583     PISSN: 13899155     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1026510200264     Document Type: Article

References (87)

1. Spiegel AM. Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease. J Inherit Metab Dis 1997;20:113-121.
2. Masters SB, Miller RT, Chi MH, Chang FH, Beiderman B, Lopez NG, Bourne HR. Mutations in the GTP-binding site of GS alpha alter stimulation of adenylyl cyclase. J Biol Chem 1989;264:15467-15474.
3. Freissmuth M, Gilman AG. Mutations of GS alpha designed to alter the reactivity of the protein with bacterial toxins. Substitutions at ARG187 result in loss of GTPase activity. J Biol Chem 1989;264:21907-21914.
4. Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989;340:692-696.
5. Lyons J, Landis CA, Griffith H, Vallar L, Grunewald K, Feichtinger H, Yuh QY, Clark, OH, Kawasaki E, Bourne HR. Two G protein oncogenes in human endocrine tumors. Science 1990;249:655-659.
6. 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.
7. 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.
8. Mann JB, Alterman S, Hills AG. Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudopseudohypoparathyroidism with a report of two cases representing the complete syndrome occuring in successive generations. Ann Intern Med 1962;56:315-342.
9. Albright F, Forbes AP, Henneman PH. Pseudopseudohypoparathyroidism. Trans Assoc Am Physicians 1952;65:337-350.
10. Albright F, Burnett CH, Smith PH. Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome". Endocrinology 1942;30:922-932.
11. Chase LR, Melson GL, Aurbach GD. Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J. Clin. Invest 1969;48:1832-1844.
12. Drezner MK, Neelon FA, Lebovitz HE. Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N Engl J Med 1973;280:1056-1060.
13. Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 1986;62:497-502.
14. Drezner MK, Haussler MR. Normocalcemic pseudohypoparathyroidism. Am J Med 1979;66:503-508.
15. Murray TM, Rao LG, Wong MM, Waddell JP, McBroom R, Tam CS, Rosen F, Levine MA. Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J Bone Miner Res 1993;8:83-91.
16. Burnstein MI, Kottamasu SR, Pettifor JM, Sochett E, Ellis BI, Frame B. Metabolic bone disease in pseudohypoparathyroidism: radiologic features. Radiology 1985;155:351-356.
17. Drezner MK, Neelon FA, Haussler M, McPherson HT, Lebovitz HE. 1,25-Dihydroxycholecalciferol deficiency: the probable cause of hypocalcemia and metabolic bone disease in pseudohypoparathyroidism. J Clin Endocrinol Metab 1976;42:621-628.
18. Neer EJ. Heterotrimeric G proteins: Organizers of transmembrane signals. Cell 1995;80:249-257.
19. Schipani E, Karga H, Karaplis AC, Potts JT, Jr, Kronenberg HM, Segre GV, Abou-Sarma AB, Juppner H. Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor. Endocrinology 1993;132:2157-2165.
20. Behar V, Pines M, Nakamoto C, Greenberg Z, Bisello A, Stueckle SM, Bessalle R, Usdin TB, Chorev M, Rosenblatt M. The human PTH2 receptor: binding and signal transduction properties of the stably expressed recombinant receptor. Endocrinology 1996;137:2748-2757.
21. Usdin TB, Gruber C, Bonner TI. Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2. J Biol Chem 1995;270:15455-15458.
22. Rubin DA, Juppner H. Zebrafish express the common parathyroid hormone/parathyroid hormone-related peptide receptor (PTH1R) and a novel receptor (PTH3R) that is preferentially activated by mammalian and fugufish parathyroid hormone-related peptide. J Biol Chem 1999;274:28185-28190.
23. Bohm A, Gaudet R, Sigler PB. Structural aspects of heterotrimeric G-protein signaling. Curr Opin Biotechnol 1997;8:480-487.
24. Clapham DE, Neer EJ. G protein beta gamma subunits. Annu Rev Pharmacol Toxicol 1997;37:167-203.
25. Schmidt CJ, Neer EJ. In vitro synthesis of G protein beta gamma dimers. J Biol Chem 1991;266:4538-4544.
26. Schmidt CJ, Thomas TC, Levine MA, Neer EJ. Specificity of G protein beta and gamma subunit interactions. J Biol Chem 1992;267:13807-13810.
27. Gautam N, Downes GB, Yan K, Kisselev O. The G-protein betagamma complex. Cell Signal 1998;10:447-455.
28. Clapham DE, Neer EJ. New roles for G-protein beta gamma-dimers in transmembrane signalling. [Review]. Nature 1993;365:403-406.
29. Ross EM, Wang J, Tu Y, Biddlecome GH. Guanosine triphosphatase-activating proteins for heterotrimeric G-proteins. Adv Pharmacol 1998;42:458-461.
30. Siderovski DP, Strockbine B, Behe CI. Whither goest the RGS proteins?. Crit Rev Biochem Mol Biol 1999;34:215-251.
31. 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.
32. Miric A, Vechio JD, Levine MA. Heterogeneous mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 1993;76:1560-1568.
33. Fitch N. Albright's hereditary osteodystrophy: a review. Am J Med Genet 1982;11:11-29.
34. Croft LK, Witkop CJ, Glas J-E. Pseudohypoparathyroidism. Oral Surg Oral Med Oral Pathol 1965;20:758-770.
35. Poznanski AK, Werder EA, Giedion A. The pattern of shortening of the bones of the hand in PHP and PPHP - A comparison with brachydactyly E, Turner syndrome, and acrodysostosis. Radiol. 1977;123:707-718.
36. Graudal N, Galloe A, Christensen H, Olensen K. The pattern of shortened hand and foot bones in D- and E- brachydactyly and pseudo-hypoparathyroidism/pseudopseudohypoparathyroidism. ROFO Fortschr Geb Rontgenstr Nuklearmed 1988;148:460-462.
37. Steinbach HL, Rudhe U, Jonsson M. Evolution of skeletal lesions in pseudohypoparathyroidism. Radiol 1965;85:670-676.
38. Prendiville JS, Lucky AW, Mallory SB, Mughal Z, Mimouni F, Langman CB. Osteoma cutis as a presenting sign of pseudohypoparathyroidism. Pediatr Dermatol 1992;9:11-18.
39. Izraeli S, Metzker A, Horev G, Karmi D, Merlob P, Farfel Z. Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity. Am J Med 1992;43:764-767.
40. 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.
41. Levine MA, Jap TS, Hung W. Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. J Pediatr 1985;107:919-922.
42. Weisman Y, Golander A, Spirer Z, Farfel Z. Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism. J Pediatr 1985;107:413-415.
43. Namnoum AB, Merriam GR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. Journal of Clinical Endocrinology & Metabolism 1998;83:824-829.
44. Wolfsdorf JI, Rosenfield RL, Fang VS. Partial gonadotrophinresistance in pseudohypoparathyroidism. Acta Endocrinol 1978;88:321-328.
45. Downs RW, Jr., Levine MA, Drezner MK, Burch WM, Jr, Spiegel AM. Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism. J Clin Invest 1983;71:231-235.
46. Brickman AS, Carlson HE, Levin SR. Responses to glucagon infusion in pseudohypoparathyroidism. J Clin Endocrinol Metab 1986;63:1354-1360.
47. Moses AM, Weinstock RS, Levine MA, Breslau NA. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism. J Clin Endocrinol Metab 1986;62:221-224.
48. Levine MA, Modi WS, OBrien SJ. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization. Genomics 1991;11:478-479.
49. Weinberg AG, Stone RT. Autosomal dominant inheritence in Albright's hereditary osteodystrophy. J Pediatr 1971;79:996-999.
50. Cedarbaum SD, Lippe BM. Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder. Am J Hum Genet 1973;25:638-645.
51. Van Dop C, Bourne HR, Neer RM. Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia. J Clin Endocrinol Metab 1984;59:825-828.
52. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci USA 1988;85:2081-2085.
53. 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.
54. 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.
55. Bhatt B, Burns J, Flanner D, McGee J. Direct visualization of single copy genes on banded metaphase chromosomes by nonisotopic in situ hybridization. Nucleic Acids Res 1988;16:3951-3961.
56. Mattera R, Graziano MP, Yatani A, Zhou Z, Graf R, Codina J, Birnbaumer L, Gilman AG, Brown AM. Splice variants of the alpha subunit of the G protein Gs activate both adenylyl cyclase and calcium channels. Science 1989;243:804-807.
57. Jones DT, Masters SB, Bourne HR, Reed RR. Biochemical characterization of three stimulatory GTP-binding proteins. J Biol Chem 1990;265:2671-2676.
58. Novotny J, Svoboda P. The long (Gs(alpha)-L) and short (Gs(alpha)-S) variants of the stimulatory guanine nucleotidebinding protein. Do they behave in an identical way? J Mol Endocrinol 1998;20:163-173.
59. Ishikawa Y, Bianchi C, Nadal-Ginard B, Homey CJ. Alternative promoter and 5′ exon generate a novel Gs alpha mRNA. J Biol Chem 1990;265:8458-8462.
60. Leitner B, Lovisetti-Scamihorn P, Heilmann J, Striessnig J, Blakely RD, Eiden LE, Winkler H. Subcellular localization of chromogranins, calcium channels, amine carriers, and proteins of the exocytotic machinery in bovine splenic nerve. J Neurochem 1999;72:1110-1116.
61. Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R. Molecular cloning and characterization of NESP55, a novel chromogranin- like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem 1997;272:11657-11662.
62. Kehlenbach RH, Matthey J, Huttner WB. XLas is a new type of G protein. Nature 1994;372:804-808.
63. Levine MA. Hypoparathyroidism and Pseudohypoparathyroidism. In: Avioli LV, Krane SM (eds): Metabolic Bone Disease. San Diego: Academic Press, 1998.
64. Weinstein LS, Gejman PV, de Mazancourt P, American N, Spiegel AM. A heterozygous 4-bp deletion mutation in the Gsa gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics 1992;13:1319-1321.
65. Yu S, Yu D, Hainline BE, Brener JL, Wilson KA, Wilson LC, Oude-Luttikhuis ME, Trembath RC, Weinstein LS. A deletion hotspot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy Hum Mol Genet 1995;4:2001-2002.
66. Ahmed SF, Dixon PH, Bonthron DT, Stirling HF, Barr DG, Kelnar CJ, Thakker RV. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol (Oxf) 1998;49:525-531.
67. Iiri T, Herzmark P, Nakamoto JM, Van Dop C, Bourne HR. Rapid GDP release from Gsa in patients with gain and loss of function. Nature 1994;371:164-168.
68. Wilson LC, Oude Luttikhuis ME, Clayton PT, Fraser WD, Trembath RC. Parental origin of Gs alpha gene mutations in Albright's hereditary osteo-dystrophy. J Med Genet 1994;31:835-839.
69. Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med. Genet. 1993;30:101-103.
70. Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA, Van Dop C. Pseudo-hypoparathyroidism type Ia from maternal but not paternal trans-mission of a Gsalpha gene mutation. Am J Med Genet 1998; 77:261-267.
71. Campbell R, Gosden CM, Bonthron DT. Parental origin of transcription from the human GNAS1 gene. J Med. Genet. 1994;31:607-614.
72. 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 alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA 1998;95:8715-8720.
73. Schwindinger WF, Lawler AM, Gearhart JD, Levine MA. A murine model of Albright hereditary osteodystrophy. Endocrine Society 1998;(Abstract).
74. Kidd GS, Schaaf M, Adler RA, Lassman MN, Wray HL. Skeletal responsiveness in pseudohypoparathyroidism: A spectrum of clinical disease. Am J Med 1980;68:772-781.
75. Schipani E, Weinstein LS, Bergwitz C, Iida- Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J. Pseudohypopara-thyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 1995;80:1611-1621.
76. Bettoun JD, Minagawa M, Kwan MY, Lee HS, Yasuda T, Hendy GN, Goltzman D, White JH. Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: Analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 1997;82:1031-1040.
77. Fukumoto S, Suzawa M, Takeuchi Y, Kodama Y, Nakayama K, Ogata E, Matsumoto T, Fujita T. Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J Clin. Endocrinol. Metab. 1996;81: 2554-2558.
78. Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LK, Ho C, Mulligan RC. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 1996;273:663-666.
79. Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 1998;102:34-40.
80. Allen DB, Friedman AL, Greer FR, Chesney RW. Hypomagnesemia masking the appearance of elevated parathyroid hormone concentrations in familial pseudohypoparathyroidism. Am J Med Genet 1988;31:153-158.
81. Winter JSD, Hughes IA. Familial pseudohypoparathyroidism without somatic anomalies. Can Med Assoc J 1980;123:26-31.
82. Juppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci USA 1998;95:11798-11803.
83. Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne HR. Pseudohypopara-thyroidism: inheritance of deficient receptor-cyclase coupling activity. Proc Natl Acad Sci USA 1981;78:3098-3102.
84. Barrett D, Breslau NA, Wax MB, Molinoff PB, Downs RW, Jr. New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase. Am. J Physiol. 1989;257:E277-E283.
85. Van Dop C. Pseudohypoparathyroidism: clinical and molecular aspects. Semin Nephrol 1989;9:168-178.
86. Kruse K, Kracht U, Wohlfart K, Kruse U. Biochemical markers of bone turnover, intact serum parathyroid horn and renal calcium excretion in patients with pseudohypoparathyroidism and hypoparathyroidism before and during vitamin D treatment. Eur J Pediatr 1989;148:535-539.
87. Rao DS, Parfitt AM, Kleerekoper M, Pumo BS, Frame B. Dissociation between the effects of endogenous parathyroid hormone on adenosine 3′,5′-monophosphate generation and phosphate reabsorption in hypocalcemia due to vitamin D depletion: An acquired disorder resembling pseudohypoparathyroidism type II. J Clin Endocrinol Metab 1985;61:285-290.