Types 1b and 11;Types 1b et 11

Presse Medicale

Volumn 28, Issue 26, 1999, Pages 1442-1447

  Vlaeminck Guillem, V ^b   Wemeau J L ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ALKALINE PHOSPHATASE; CALCIUM; CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN; HYDROXYPROLINE; OSTEOCALCIN; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR; VITAMIN D;

ALBRIGHT SYNDROME; BONE DENSITY; BONE RADIOGRAPHY; BONE REMODELING; DISEASE CLASSIFICATION; HORMONE RESISTANCE; HUMAN; PARATHYROIDECTOMY; PSEUDOHYPOPARATHYROIDISM; REVIEW; TRABECULAR BONE;

EID: 0345465906     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (142)

1. Albright F, Burnett CH, Smith PH, Parson W. Pseudohypoparathyroidism. An example of «Seabright-Bantam syndrome». Endocrinology 1942 ; 10:922-32.
2. George FW, Wilson JD. Pathogenesis of the henny feathering trait in the Sebright Bantam chicken. J Clin Invest 1980 ; 66:57-65.
3. Patten JL, Johns DR, Valle D et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 1990 ; 322:1412-9.
4. Weinstein LS, Gejman PV, Friedman E et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A 1990 ; 87:8287-90.
5. Chase LR, Aurbach GD. Parathyroid function and the renal excretion of 3′5′-adenylic acid. Proc Natl Acad Sci U S A 1967 ; 58:518-25.
6. Chase LR, Melson GL, Aurbach GD. Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J Clin Invest 1969 ; 48:1832-44.
7. Ross EM, Gilman AG. Reconstitution of catecholamine-sensitive adenylate cyclase activity: interaction of solubilized components with receptor-replete membranes. Proc Natl Acad Sci U S A 1977 ; 74:3715-9.
8. Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR. Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N Engl J Med 1980 ; 303:237-42.
9. Levine MA, Downs RW, Jr, 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 ; 94:1319-24.
10. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci U S A 1988 ; 85:2081-5.
11. Scheffzek K, Ahmadian MR, Wittinghofer A. GTPase-activating proteins: helping hands to complement an active site. Trends Biochem Sci 1998 ; 23:257-62.
12. Schwindinger WF, Levine MA. Albright hereditary osteodystrophy. Endocrinologist 1994 ; 4:17-27.
13. Ringel MD, Schwindinger WF, Levine MA. Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright Hereditary Osteodystrophy. Medicine 1996 ; 75:171-84.
14. Fitch N. Albright's hereditary osteodystrophy: a review. Am J Med Genet 1982 ; 11:11-29.
15. Levine MA, Schwindinger WF, Downs RW, Moses AM. Pseudohypoparathyroidism. Clinical, biochemical, and molecular features. In: The parathyroids. Basic and clinical concepts. Bilezikian JP, Marcus RM, Levine MA, eds. Raven Press, New York 1994 ; 781-800.
16. Croft LK, Witkop CJ, Glas JE. Pseudohypoparathyroidism. Oral Surg Oral Med Oral Pathol 1965 ; 20:758-70.
17. Poznanski AK, Werder EA Giedion A, Martin A, Shaw H. the pattern of shortening of the bones of the hand in PHP and PPHP-A comparison with brachydactyty E, Turner Syndrome, and acrodysostosis. Radiology 1977 ; 123:707-18.
18. Illum F, Dupont E. Prevalences of CT-detected calcification in the basal ganglia in idopathic hypoparathyroidism and pseudohypoparathyroidism. Neuroradiology 1985 ; 27:32-7.
19. Ellie E, Julien J, Ferrer X, Riss I, Durquety MC. Extensive cerebral calcification and retinal changes in pseudohypoparathyroidism. J Neurol 1989 ; 236:452-4.
20. Korn-Lubetzki I, Rubinger D, Siew F. Visualization of basal ganglia calcification by cranial computed tomography in a patient with pseudohypoparathyroidism. Isr J Med Sci 1980 ; 16:40-1.
21. Furukawa T. Periodic psychosis associated with pseudo-pseudohypoparathyroidism. J Nerv Ment Dis 1991 ; 179:637-8.
22. Pearson DW, Durward WF, Fogelman I, Boyle IT, Beastall C. Pseudohypoparathyroidism presenting as severe Parkinsonism. Postgrad Med J 1981 ; 57:445-7.
23. Alam SM, Kelly W. Spinal cord compression associated with pseudohypoparathyroidism. J R Soc Med 1990 ; 83:50-1.
24. Cavallo A, Meyer WJ, Bodensteiner JB, Chesson AL. Spinal cord compression: an unusual manifestation of pseudohypoparathyroidism. Am J Dis Child 1980 ; 134:706-7.
25. Piciche M, Scanderbeg AC, Chianello L, Levato ME, Tomai F, Pellegrino A. Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case. G Ital Cardiol 1998 ; 28:1012-6.
26. Schuster V, Sandhage K. Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia). Pediatr Cardiol 1992 ; 13:237-9.
27. Miano A, Casadei G, Biasini G. Cardiac failure in pseudohypoparathyroidism. Helv Paediatr Acta 1981 ; 36:191-2.
28. Ellsworth R, Howard JE. Studies on the physiology of the parathyroid glands. VII. Some responses of normal human kidneys and blood to intravenous parathyroid extract. Bull Johns Hopkins Hosp 1934 ; 55:296-317.
29. Segre GV. Receptors for parathyroid hormone and parathyroid hormone-related protein. In: The parathyroids. Basic and clinical concepts. Bilezikian JP, Marcus RM, Levine MA eds. Raven Press, New York 1994 ; 213-29.
30. Spiegel AM. The molecular basis of disorders caused by defects in G proteins. Horm Res 1997 ; 47:89-96.
31. Simon MI, Strathmann MP, Gautam N. Diversity of G proteins in signal transduction. Science 1991 ; 252:802-8.
32. Kaziro Y, Itoh H, Kozasa T, Nakafuku M, Satoh T. Structure and function of signal-transducing GTP-binding proteins. Annu Rev Biochem 1991 ; 60:349-400.
33. Coleman DT, Fitzpatrick LA, Bilezikian JP. Biochemical mechanisms of parathyroid hormone action. In: The parathyroids. Basic and clinical concepts. Bilezikian JP, Marcus RM, Levine MA, eds. Raven Press, New York 1994 ; 239-58.
34. Drezner M, Neelon FA, Lebovitz HE. Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. NW Engl J Med 1973 ; 289:1056-60.
35. Schipani E, Weinstein LS, Bergwitz C et al. Pseudohypoparathyroidism 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 ; 80:1611-21.
36. Fukumoto S, Suzawa M, Takeuchi Y et al. 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 ; 81:2554-8.
37. Bettoun JD, Minagawa M, Kwan MY et al. 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 ; 82:1031-40.
38. Ahmed SF, Dixon PH, Bonthron DT et al. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol (Oxf) 1998 ; 49:525-31.
39. 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:E277-83.
40. Izraeli S, Metzker A, Horev G, Karmi D, Merlob P, Farfel Z. Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis. Am J Med Genet 1992 ; 43:764-7.
41. Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne HR. Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. Proc Natl Acad Sci U S A 1981 ; 78:3098-102.
42. 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 ; 152:185-9.
43. Albright F, Forbes AP, Henneman PH. Pseudo-pseudohypoparathyroidism. Trans Assoc Am Physicians 1952 ; 65:337-50.
44. Mitchell J, Goltzman D. Examination of circulating parathyroid hormone in pseudohypoparathyroidism. J Clin Endocrinol Metab 1985 ; 61:328-34.
45. Loveridge N, Fischer JA, Nagant de Deuxchaisnes C et al. Inhibition of cytochemical bioactivity of parathyroid hormone by plasma in pseudohypoparathyroidism type I. J Clin Endocrinol Metab 1982 ; 54:1274-5.
46. Wémeau JL, Duquesnoy B, Grimbert I et al. Sensibilité de l'os à la parathormone dans les pseudohypoparathyroïdies de type I. Six observations. Ann Med Intern 1986 ; 137:220-5.
47. Breslau NA, Zerwekh JE. Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. J Clin Endocrinol Metab 1986 ; 62:45-51.
48. Zerwekh JE, Breslau NA. Human placental production of 1 alpha,25-dihydroxyvitamin D3: biochemical characterization and production in normal subjects and patients with pseudohypoparathyroidism. J Clin Endocrinol Metab 1986 ; 62:192-6.
49. Metz SA, Baylink DJ, Hughes MR, Haussler MR, Robertson RP. Selective defidency of 1,25-dihydroxycholecalciferol. A cause of isolated skeletal resistance to parathyroid hormone. N Engl J Med 1977 ; 297:1084-90.
50. Kooh SW, Fraser D, DeLuca HF et al. Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: evidence for impaired conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvrtamin D. N Engl J Med 1975 ; 293:840-4.
51. Drezner MK, Neelon FA, Haussier 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 ; 42:621-8.
52. Sinha TK, DeLuca HF, Bell NH. Evidence for a defect in the formation of 1 alpha,25-dihydroxyvitamin D in pseudohypoparathyroidism. Metabolism 1977 ; 26:731-8.
53. McElduff A, Lissner D, Wilkinson M, Cornish C, Posen S. A 6-hour human parathyroid hormone (1-34) infusion protocol: studies in normal and hypoparathyroid subjects. Calcif Tissue Int 1987 ; 41:267-73.
54. Miura R, Yumita S, Yoshinaga K, Furukawa Y. Response of plasma 1,25-dihydroxyvitamin D in the human PTH(1-34) infusion test: an improved index for the diagnosis of idiopathic hypoparathyroidism and pseudohypoparathyroidism. Calcif Tissue Int 1990 ; 46:309-13.
55. Kageyama Y, Kawamura J, Ajisawa A, Yamada T, Iikuni K. A case of pseudohypoparathyroidism type 1 associated with gonadotropin resistance and hypercalcitoninaemia. Jpn J Med 1988 ; 27:207-10.
56. Murayama A, Takeyama K, Kitanaka S, Kodera Y, Hosoya T, Kato S. The promoter of the human 25-hydroxyvitamin D3 1 alpha-hydroxylase gene confers positive and negative responsiveness to PTH, calcitonin, and 1 alpha,25(OH)2D3. Biochem Biophys Res Commun 1998 ; 249:11-6.
57. Levine MA, Downs RW, Moses AM et al. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Am J Med 1983 ; 74:545-56.
58. Uhlemann HJ. Familiäre idiopathische Tetanie im Rahmen Pluriglandulär Insuffienz. Klin Wschr 1950 ; 28:489-97.
59. Cohen ML, Donnell GN. Pseudohypoparathyroidism with hypothyroidism. J Pediatr 1960 ; 56:359-75.
60. Nagant de Deuxchaisnes C, Isaac C, Jacquet A, Hoet JJ. Etude clinique et physiopathogénique de la «dystrophie d'Albright» (pseudo-pseudo-hypoparathyroïdisme) et de syndromes voisins. A propos de 3 nouveaux cas, dont 2 familiaux. Rev Franc Etud Clin Biol 1960 ; 5:153-70.
61. Azerad E, Gatha J, Raverdy P. Un cas de pseudo-hypoparathyroïdisme. Bull Soc Med Hop Paris 1953 ; 69:199-208.
62. Berardinelli W. Pseudohypoparathyroidism with decreased glucose tolerance and diabetes insipidus. Acta Endocr 1951 ; 7:7-14.
63. McGregor ME, Whitehead TP. Pseudohypoparathyroidism. Arch Dis Child 1954 ; 29:398-418.
64. Blatt C, Eversole-Cire P, Cohn VH et al. Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Proc Natl Acad Sci U S A 1988 ; 85:7642-6.
65. Schwindinger WF, Miric A, Zimmerman D, Levine MA. A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. J Biol Chem 1994 ; 269:25387-91.
66. Farfel Z, Iiri T, Shapira H, Roitman A, Mouallem M, Bourne HR. Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation. J Biol Chem 1996 ; 271:19653-5.
67. McCune DJ, Bruch H. Osteodystrophia fibrosa. Am J Dis Child 1937 ; 54:806-48.
68. Albright F, Buttler AM, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females report of five cases. N Engl J Med 1937 ; 216:727-46.
69. 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.
70. Levine MA. The McCune-Albright syndrome. The whys and wherefores of abnormal signal transduction. N Engl J Med 1991 ; 325:1738-40.
71. Bockaert J, Pin JP. Utiliser un récepteur couplé aux protéines G pour communiquer. Un succès évolutif. C R Acad Sci Paris 1998 ; 321:529-51.
72. Bockaert J. Les récepteurs àsept domaines transmembranaires : physiologie et pathologie de la transduction. M/Sc 1995 ; 11:382-94.
73. Mallet E, Carayon P, Amr S et al. Coupling defect of thyrotropin receptor and adenylate cyclase in a pseudohypoparathyroid patient. J Clin Endocrinol Metab 1982 ; 54:1028-32.
74. Coutant R, Carel JC, Mathivon L et al. Hypothyroïdie primaire révélant une pseudohypoparathyroïdie sans hypocalcémie ni hyperphosphorémie. Arch Pédiatr 1997 ; 4:433-7.
75. Marx SJ, Hershman JM, Aurbach GD. Thyroid dysfunction in pseudohypoparathyroidism. J Clin Endocrinol Metab 1971 ; 33:822-8.
76. 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 ; 51:483-7.
77. Levine MA, Jap TS, Hung W. Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. J Pediatr 1985 ; 107:919-22.
78. Weisman Y, Golander A, Spirer Z, Farfel Z. Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism. J Pediatr 1985 ; 107:413-5.
79. Vokoro S, Matsuo M, Ohtsuka T, Ohzeki T. Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic due for pseudohypoparathyroidism. Biol Neonate 1990 ; 58:69-72.
80. BO. Werder EA, Illig R, Bernasconi S et al. Excessive thyrotropin response to thyrotropin-releasing hormone in pseudohypoparathyroidism. Pediatr Res 1975 ; 9:12-17.
81. Wolfsdorf JI, Rosenfield RL, Fang VS, Kobayashi R, Razdan AK, Kim MH. Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol (Copenh) 1978 ; 88:321-8.
82. 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 ; 21:551-68.
83. Namnoum AB, Merriam CR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1998 ; 83:824-9.
84. Iiri T, Herzmark P, Nakamoto JM, van Dop C, Bourne HR. Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature 1994 ; 371:164-8.
85. Nakamoto JM, Zimmerman D, Jones EA et al. Concurrent hormone resistance (Pseudohypoparathyroidism Type Ia) and hormone independence (Testotoxicosis) caused by a unique mutation in the Galphas gene. Biochem Mol Med 1996 ; 58:18-24.
86. Kruse K, Gutekunst B, Kracht U, Schwerda K. Deficient prolactin response to parathyroid hormone in hypocalcemic and normocalcemic pseudohypoparathyroidism. J Clin Endocrinol Metab 1981 ; 52:1099-105.
87. Carlson HE, Brickman AS, Bottazzo GF. Prolactin deficiency in pseudohypoparathyroidism. N Engl J Med 1977 ; 296:140-4.
88. Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H, Saito T. Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type Ia. Eur J Pediatr 1988 ; 147:536-8.
89. Fujii H, Higashi K, Morita M, Sato T. A case of pseudohypoparathyroidism (PHP) associated with multiple hormonal abnormalities. Jpn J Med 1984 ; 23:23741.
90. Brickman AS, Carlson HE, Levin SR. Responses to glucagon infusion in pseudohypoparathyroidism. J Clin Endocrinol Metab 1986 ; 63:1354-60.
91. Emanuelli G, Pellegrini A. Su un caso di pseudo-pseudoipoparatiroidismo con osteite fibrosa, diabete mellito e diabete insipido. Minerva Med 1968 ; 59:681-9.
92. Brickman AS, Weitzman RE. Renal resistance to arginine vasopressin in pseudohypoparathyroidism. Clin Res 1978 ; 26:164.
93. Moses AM, Coulson BB. Absence of overlapping resistance to vasopressin and parathyroid hormone in patients with nephrogenic diabetes insipidus and pseudohypoparathyroidism. J Clin Endocrinol Metab 1982 ; 55:699-702.
94. Moses AM, Weinstock RS, Levine MA, Breslau NA. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nudeotide-binding stimulatory protein-deficient pseudohypoparathyroidism. J Clin Endocrinol Metab 1986 ; 62:221-4.
95. Scott DC, Hung W. Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 1995 ; 8:205-7.
96. Ong OC, Dop CV, Fung BKK. Real-time monitoring of reduced beta-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism. Anal Biochem 1996 ; 238:76-81.
97. Kaartinen JM, Kaar ML, Ohisalo JJ. Defective stimulation of adipocyte adenylate cyclase, blunted lipolysis, and obesity in pseudohypoparathyroidism Ia. Pediatr Res 1994 ; 35:594-7.
98. Weinstock RS, Wright HN, Spiegel AM, Levine MA, Moses AM. Olfactory dysfunction in humans with deficient guanine nucleotide-binding protein. Nature 1986 ; 322:635-6
99. Henkin RI. Impairment of olfaction and of the tastes of sour and bitter in pseudohypoparathyroidism. J Clin Endocrinol Metab 1968 ; 28:624-8.
100. Ikeda K, Sakurada T, Sasaki Y, Takasaka T, Furukawa Y. Clinical investigation of olfactory and auditory function in type I pseudohypoparathyroidism: participation of adenylate cyclase system. J Laryngol Otol 1988 ; 102:1111-4.
101. Doty RL, Fernandez AD, Levine MA, Moses A, McKeown DA. Olfactory dysfunction in type I pseudohypoparathyroidism: dissociation from Gs alpha protein deficiency. J Clin Endocrinol Metab 1997 ; 82:247-50.
102. Koch T, Lehnhardt E, Böttinger H et al. Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: results of a murticenter study. Eur J Clin Invest 1990 ; 20:416-21.
103. Jackowski MM, Hannon D, Sturr JF, Moses AM. Enhanced contrast sensitivity in patients with pseudohypoparathyroidism. Program of the Annual Meeting of ARVO 1992 ; 20:966.
104. Farfel Z, Friedman E. Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med 1986 ; 105:197-9.
105. Lanske B, Karaplis AC, Lee K et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 1996 ; 273:663-6.
106. Lee HS, McCuaig KA, White JH. Structure et expression tissulaire spécifique du gène codant pour le récepteur de l'hormone parathyroïdienne. M/Sc 1996 ; 12:183-8.
107. Amizuka N, Henderson JE, Hoshi K et al. Programmed cell death of chondrocytes and aberrant chondrogenesis in mice homozygous for parathyroid horrrone-related peptide gene deletion. Endocrinology 1996 ; 137:5055-67.
108. Karaplis AC, Luz A, Glowacki J et al. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 1994 ; 8:277-89.
109. Philbrick WM, Dreyer BE, Nakchbandi IA, Karaplis AC. Parathyroid hormone-related protein is required for tooth eruption. Proc Natl Acad Sci U S A 1998 ; 95:11846-51
110. Levine MA, Morrow PP, Kronenberg HM, Phillips JAd. Tissue and gene specific hypomethylation of the human parathyroid hormone gene: association with parathyroid hormone gene expression in parathyroid glands. Endocrinology 1986 ; 119:1618-24.
111. Patten JL, Levine MA. Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1990 ; 71:1208-14.
112. Fischer JA, Egert F, Werder E, Born W. An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo-and pseudopseudohypoparathyroidism. J Clin Endocrinol Metab 1998 ; 83:935-8.
113. Barr DG, Stirling HF, Darling JA. Evolution of pseudohypoparathyroidism: an informative family study. Arch Dis Child 1994 ; 70:337-8.
114. Davies SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. J Med Genet 1993 ; 30:101-3.
115. 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 U S A 1998 ; 95:15475-80.
116. Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA, Van Dop C. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gs alpha gene mutation. Am J Med Genet 1998 ; 77:261-7.
117. Tachdjian G, Bauman C. Empreinte génomique. Presse Med 1998 ; 27:365-9.
118. Yu S, Yu D, Lee E et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein a-subumt (Gsa) knockout mice is due to tissue-specific imprinting of the Gsa gene. Proc Natl Acad Sci U S A 1998 ; 95:8715-20.
119. Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med 1999 ; 340:1012-20.
120. Werder EA, Fischer JA, Illig R et al. Pseudohypoparathyroidism and idiopathic hypoparathyroidism: relationship between serum calcium and parathyroid hormone levels and urinary cyclic adenosine-3′,5′-monophosphate response to parathyroid extract. J Clin Endocrinol Metab 1978 ; 46:872-9.
121. Van Dop C. Pseudohypoparathyroidism: clinical and molecular aspects. Semin Nephrol 1989 ; 9:168-78.
122. Pallardo Sanchez LF, Montero A, Vidal O, Sanchez Sicilia L, Cerdan A. Suedohipoparatiroidismo tipo II de presentacion familiar. Rev Clin Esp 1977 ; 145:369-74.
123. Rodrigue HJ, Villarreal H, Jr., Klahr S, Slatopolsky E. Pseudohypoparathyroidism type II: restoration of normal renal responsiveness to parathyroid hormone by calcium administration. J Clin Endocrinol Metab 1974 ; 39:693-701.
124. Mundy CR. Hypocalcemia. Causes, clinical features, differential diagnosis. In: Calcium homeostasis: hypercalcemia and hypocalcemia. Mundy GR, ed. Martin Dunitz, London 1989 ; 182-200.
125. Kidd GS, Schaaf M, Adler RA, Lassman MN, Wray HL. Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease. Am J Med 1980 ; 68:772-81.
126. Kolb FO, Steinbach HL. Pseudohypoparathyroidism with secondary hyperparathyroidism and osteitis fibrosa. J Clin Endocrinol Metab 1962 ; 22:59-70.
127. Frame B, Harison CA, Frost HM, Block M, Arnstein AR. Renal resistance to parathyroid hormone with osteitis fibrosa: «pseudohypohyperparathyroidism». Am J Med 1972 ; 52:311-21.
128. Werder EA, Kind HP, Egert F, Fischer JA, Prader A. Effective long-term treatment of pseudohypoparathyroidism with oral 1 alpha-hydroxy-and 1,25-dihydroxy-cholecalciferol. J Pediatr 1976 ; 89:266-8.
129. Connors MH, Irias JJ, Golabi M. Hypo-hyperparathyraidism: evidence for a defective parathyroid hormone. Pediatrics 1977 ; 60:343-8.
130. Malpuech G, Gaillard G, Merle P, Pailloncy JM, Raynaud EJ. Pseudohypohyperparathyroïdie ou pseudohypoparathyroïdie de type II de Frame. Arch Fr Pediatr 1975 ; 32:581.
131. Murray TM, Rao LG, Wong MM et al. 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.
132. Ish-Shalom S, Rao LC, Levine MA et al. Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. J Bone Miner Res 1996; 11:8-14.
133. Silve C, Santora A, Breslau N, Moses A, Spiegel A. Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 1986 ; 62:640-4.
134. Schipani E, Kruse K, Jüppner H. A constitutively active mutant PTH-PTHrp receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995 ; 268:98-100.
135. Schipani E, Jensen GS, Pincus J, Nisseuson RA, Gardella TJ, Jüppner H. Constitutive activation of the cyclic adenosme 3′,5′-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. Mol Endocrinol 1997 ; 11:851-8.
136. Blomstrand S, Claësson I, Säve-Söderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 1985 ; 15:141-3.
137. Zhang P, Jobert AS, Couvineau A, Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998 ; 83:3365-8.
138. Jobert AS, Zhang P, Couvineau A et al. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 1998 ; 102:34-40.
139. Suarez F, Lebrun JJ, Lecossier D, Escoubet B, Coureau C, Silve C. Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism. J Clin Endocrinol Metab 1995 ; 80:965-70.
140. Fukumoto S, Suzawa M, Kikuchi T, Matsumoto T, Kato S, Fujita T. Cloning and characterization of kidney-specific promoter of human PTH/PTHrP receptor gene: absence of mutation in patients with pseudohypoparathyroidism type Ib. Mol Cell Endocrinol 1998 ; 141:41-7.
141. Juppner H, Schipani E, Bastepe M et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 2Oq13.3. Proc Natl Acad Sci U S A 1998 ; 95:11798-803.
142. Eubanks PJ, Stabile BE. Osteitis fibrosa cystica with renal parathyroid hormone resistance: a review of pseudohypoparathyroidism with insight into calcium homeostasis. Arch Surg 1998 ; 133:673-6.