Skip to main content

Pseudohypoparathyroidism

  • Chapter
Hormone Resistance Syndromes

Part of the book series: Contemporary Endocrinology ((COE,volume 14))

  • 148 Accesses

Abstract

In 1942, Fuller Albright and his associates described three patients who presented with tetany and seizures, and were found to have hypocalcemia (1). These clinical and bio-chemical features were consistent with the diagnosis of hypoparathyroidism. However, unlike patients with parathyroid hormone (PTH) deficiency, these patients failed to show a rise in serum calcium or urinary phosphate in response to injected parathyroid extract (1). Albright speculated that this condition was owing to target organ (bone and kidney) resistance to PTH action, and dubbed this syndrome pseudohypoparathyroidism (PHP). This was the first description of hormone resistance in humans.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Albright F, Burnett CH, Smith PH, Parson W. Pseudo-hypoparathyroidism—an example of“SeabrightBantam syndrome. ” Endocrinology 1942; 30: 922–932.

    CAS  Google Scholar 

  2. Albright F, Forbes AP, Henneman PH. Pseudo-pseudohypoparathyroidism. Trans Assoc Am Physicians 1952; 65: 337.

    PubMed  CAS  Google Scholar 

  3. Tashjian AH Jr, Frantz AG, Lee JB. Pseudohypoparathyroidism: assays of parathyroid hormone and thyrocalcitonin. Proc Natl Acad Sci USA 1966; 56: 1138–1142.

    Article  PubMed  CAS  Google Scholar 

  4. 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.

    Article  PubMed  CAS  Google Scholar 

  5. Bell NH, Avery S, Sinha T, Clark CM Jr, Allen DO, Johnston C Jr. Effects of dibutyryl cyclic adenosine 3’,5’-monophosphate and parathyroid extract on calcium and phosphorus metabolism in hypoparathyroidism and pseudohypoparathyroidism. J Clin Invest 1972; 51: 816–823.

    Article  PubMed  CAS  Google Scholar 

  6. Drezner MK, Burch WM Jr. Altered activity of the nucleotide regulatory site in the parathyroid hormone-sensitive adenylate cyclase from the renal cortex of a patient with pseudohypoparathyroidism. J Clin Invest 1978; 62: 1222–1227.

    Article  PubMed  CAS  Google Scholar 

  7. Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR. Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N Engl J Med 1980; 303: 237–242.

    Article  PubMed  CAS  Google Scholar 

  8. 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: 1319–1324.

    Article  PubMed  CAS  Google Scholar 

  9. 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: E277–283.

    PubMed  CAS  Google Scholar 

  10. Drezner M, Neelon FA, Lebovitz HE. Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N Engl J Med 1973; 289: 1056–1060.

    Article  PubMed  CAS  Google Scholar 

  11. Fitch N. Albright’s hereditary osteodystrophy: a review. Am J Hum Genet 1982; 11: 11–29.

    Article  CAS  Google Scholar 

  12. Steinbach HL, Rudhe U, Jonsson M, Young DA. Evolution of skeletal lesions in pseudohypopara-thyroidism. Radiology 1965; 85: 670–676.

    PubMed  CAS  Google Scholar 

  13. Croft LK, Witkop CJ Jr, Glas JE. Pseudohypoparathyroidism. Oral Surg Oral Med Oral Pathol 1965; 20: 758–770.

    Article  PubMed  CAS  Google Scholar 

  14. Poznanslci 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. Radiology 1977; 123: 707–718.

    Google Scholar 

  15. 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.

    Article  PubMed  CAS  Google Scholar 

  16. Trileb RM, Panizzon RG, Burg G. Cutaneous ossification in Albright’s hereditary osteodystrophy. Dermatology 1993; 186: 205–209.

    Article  Google Scholar 

  17. Kaartinen JM, Kaar ML, Ohisalo JJ. Defective stimulation of adipocyte adenylate cyclase, blunted lipolysis, and obesity in pseudohypoparathyroidism la. Pediatr Res 1994; 35: 594–597.

    Article  PubMed  CAS  Google Scholar 

  18. Weinstock RS, Wright HN, Spiegel AM, Levine MA, Moses AM. Olfactory dysfunction in humans with deficient guanine nucleotide-binding protein. Nature 1986; 322: 635–636.

    Article  PubMed  CAS  Google Scholar 

  19. Henkin RI Impairment of olfaction and of the tastes of sour and bitter in pseudohypoparathyroidism. J Clin Endocrinol Metab 1968; 28: 624–628.

    Article  PubMed  CAS  Google Scholar 

  20. Koch T, Lehnhardt E, Bottinger H, Pfeuffer T, Palm D, Fischer B, et al. Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: results of a multicentre study. Eur J Clin Invest 1990; 20: 416–421.

    Article  PubMed  CAS  Google Scholar 

  21. Jones DT, Reed RR. Golf: an olfactory neuron specific-G protein involved in odorant signal transduc-tion. Science 1989; 244: 790–795.

    Article  PubMed  CAS  Google Scholar 

  22. McLaughlin SK, McKinnon PJ, Margolskee RF. Gustducin is a taste-cell-specific G protein closely related to the transducins. Nature 1992; 357: 563–569.

    Article  PubMed  CAS  Google Scholar 

  23. Garty BZ, Daliot D, Kauli R, Arie R, Grosman J, Nitzan M, et al. Hearing impairment in idiopathic hypoparathyroidism and pseudohypoparathyroidism. Isr J Med Sci 1994; 30: 587–591.

    PubMed  CAS  Google Scholar 

  24. 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: 247–250.

    Article  PubMed  CAS  Google Scholar 

  25. Faig JC, Kalinyak J, Marcus R, Feldman D. Chronic atypical seizure disorder and cataracts due to delayed diagnosis of pseudohypoparathyroidism. West J Med 1992; 157: 64–65.

    PubMed  CAS  Google Scholar 

  26. Glynne A, Hunter IP, Thomson JA. Pseudohypoparathyroidism with paradoxical increase in hypoc-alcaemic seizures due to long-term anticonvulsant therapy. Postgrad Med J 1972; 48: 632–636.

    Article  PubMed  CAS  Google Scholar 

  27. Guberman A, Jaworski ZF. Pseudohypoparathyroidism and epilepsy: diagnostic value of computer-ized cranial tomography. Epilepsia 1979; 20: 541–553.

    Article  PubMed  CAS  Google Scholar 

  28. Pollak L, Klein C, Tieder M, Arlazoroff A. Therapy-resistant seizures in pseudohypoparathyroidism. A case report. J Pediatr Endocrinol Metab 1995; 8: 209–211.

    Article  PubMed  CAS  Google Scholar 

  29. Farfel Z, Friedman E. Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med 1986; 105: 197–199.

    Article  PubMed  CAS  Google Scholar 

  30. Marx SJ, Hershman JM, Aurbach GD. Thyroid dysfunction in pseudohypoparathyroidism. J Clin Endocrinol Metab 1971; 33: 822–828.

    Article  PubMed  CAS  Google Scholar 

  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.

    CAS  Google Scholar 

  32. 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 stimu-latory protein-deficient pseudohypoparathyroidism. J Clin Endocrinol Metab 1986; 62: 221–224.

    Article  PubMed  CAS  Google Scholar 

  33. Levine MA, Downs RW Jr. Moses AM, Breslau NA, Marx SJ, Lasker RD, et al. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983; 74: 545–556.

    Article  PubMed  CAS  Google Scholar 

  34. Tsai KS, Chang CC, Wu DJ, Huang TS, Tsai IH, Chen FW. Deficient erythrocyte membrane Gs alpha activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism. Taiwan I Hsueh Hui Tsa Chih 1989; 88: 450–455.

    PubMed  CAS  Google Scholar 

  35. Ridderskamp P, Schlaghecke R. Pseudohypoparathyroidism and adrenal cortex insufficiency. A case of multiple endocrinopathy due to peripheral hormone resistance. Klin Wochenschr 1990; 68: 927–931.

    Article  PubMed  CAS  Google Scholar 

  36. Brickman AS, Carlson HE, Levin SR. Responses to glucagon infusion in pseudohypoparathyroidism. J Clin Endocrinol Metab 1986; 63: 1354–1360.

    Article  PubMed  CAS  Google Scholar 

  37. 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.

    Article  PubMed  CAS  Google Scholar 

  38. Murray TM, Rao LG, Wong MM, Waddell JP, McBroom R, Tam CS, 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.

    Article  PubMed  CAS  Google Scholar 

  39. Schipani E, Weinstein LS, Bergwitz C, lida-Klein A, Kong XF, Stuhrmann M, 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: 1611–1621.

    Article  PubMed  CAS  Google Scholar 

  40. Fukumoto S, Suzawa M, Takeuchi Y, Kodama Y, Nakayama K, Ogata E, 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: 2554–2558.

    Article  PubMed  CAS  Google Scholar 

  41. Bettoun JD, Minagawa M, Kwan MY, Lee HS, Yasuda T, Hendy GN, 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 lb. J Clin Endocrinol Metab 1997; 82: 1031–1040.

    Article  PubMed  CAS  Google Scholar 

  42. Jan de Beur SM, LaBuda MC, Timberlake RJ, Levine MA. Genome-wide linkage analysis of pseudohypoparathyroidism lb. In: Program and Abstracts 79th Annual Meeting. The Endocrine Society Press, Bethesda, MD, 1997, p. 242 [Abstract].

    Google Scholar 

  43. Davies SJ, Hughes HE. Imprinting in Albright’s hereditary osteodystrophy. J Med Genet 1993; 30: 101–103.

    Article  PubMed  CAS  Google Scholar 

  44. Schuster V, Kress W, Kruse K. Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence for genomic imprinting. J Med Genet 1994; 31: 84 [Letter].

    Google Scholar 

  45. Campbell R, Gosden CM, Bonthron DT. Parental origin of transcription from the human GNAS 1 gene. J Med Genet 1994; 31: 607–614.

    Article  PubMed  CAS  Google Scholar 

  46. Williamson CM, Schofield J, Dutton ER, Seymour A, Beechy CV, Edwards YH, et al. Glomerularspecific imprinting of the mouse Gsa gene: How does this relate to hormone resistance in Albright hereditary osteodystrophy. Genomics 1996; 36: 280–287.

    Article  PubMed  CAS  Google Scholar 

  47. Karaplis AC, Luz A, Glowacki J, Bronson RT, Tybulewicz VII, Kronenberg HM, et al. Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 1994; 8: 277–289.

    Article  PubMed  CAS  Google Scholar 

  48. Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ. Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 1996; 273: 613–622.

    Article  PubMed  CAS  Google Scholar 

  49. Amizuka N, Karaplis AC, Henderson JE, Warshawsky H, Lipman ML, Matsuki Y, et al. Haploinsufficiency of parathyroid hormone-related peptide (PTHrP) results in abnormal postnatal bone development. Dev Biol 1996; 175: 166–176.

    Article  PubMed  CAS  Google Scholar 

  50. Kovacs CS, Lanske B, Hunzelman JL, Karaplis AC, Kronenberg HM. Parathyroid hormone-related peptide (PTHrP) regulates fetal-placental calcium transport through a receptor distinct from PTH/ PTHrP receptor. Proc Natl Acad Sci USA 1996;93:15, 233–15, 238.

    Google Scholar 

  51. Abou Samra A-B, Jüppner H, Force T, Freeman MW, Kong X-F, Schipani E, et al. Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: A single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium. Proc Natl Acad Sci USA 1992; 89: 2732–2736.

    Article  Google Scholar 

  52. Usdin TB, Gruber C, Bonner TI. Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor. J Biol Chem 1995;270:15, 455–15, 458.

    Google Scholar 

  53. Offermanns S, lida-Klein A, Segre GV, Simon MI. Gag family members couple parathyroid hormone (PTH)/PTH-related peptide and calcitonin receptors to phospholipase C in COS-7 cells. Mol Endocrinol 1996; 10: 566–574.

    Article  PubMed  CAS  Google Scholar 

  54. Yan K, Kalyanaraman V, Gautam N. Differential ability to form the G protein 13-y complex among members of the 13 and y subunit families. J Biol Chem 1996; 271: 7141–7146.

    Article  PubMed  CAS  Google Scholar 

  55. Rahmatullah M, Ginnan R, Robishaw JD. Specificity of G protein ot-y subunit interactions. J Biol Chem 1995; 270: 2946–2951.

    Article  PubMed  CAS  Google Scholar 

  56. Kleuss C, Scherubl H, Hescheler G. Schultz G, Wittig B. Different I3-subunits determine G-protein interactions with transmembrane receptors. Nature 1992; 358: 424–426.

    Article  PubMed  CAS  Google Scholar 

  57. Dohlman HG, Thorner J. RGS proteins and signaling by heterotrimeric G proteins. J Biol Chem 1997; 272: 3871–3874.

    Article  PubMed  CAS  Google Scholar 

  58. Mixon MB, Lee E, Coleman DE, Berghuis AM, Gilman AG, Sprang SR. Tertiary and quaternary structural changes in Gial induced by GTP hydrolysis. Science 1995; 270: 954–959.

    Article  PubMed  CAS  Google Scholar 

  59. Coleman DE, Berghuis AM, Lee E, Linder ME, Gilman AG, Sprang SR. Structure of active confromations of Gial and the mechanism of GTP hydrolysis. Science 1994; 265: 1405.

    Article  PubMed  CAS  Google Scholar 

  60. Wall MA, Coleman DE, Lee E, Iniguez-Lluhi JA, Posner BA, Gilman AG, et al. The structure of the G protein heterotrimer Gia11342. Cell 1995; 83: 1047–1058.

    Article  PubMed  CAS  Google Scholar 

  61. Sprang S. G protein mechanisms: insights from structural analysis. Ann Rev Biochem 1997; 66: 639–678.

    Article  PubMed  CAS  Google Scholar 

  62. Levine MA, Modi WS, O’Brien SJ. Mapping of the gene encoding the a subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2–13.3 in human by in situ hybridization. Genomics 1991; 11: 478–479.

    Article  PubMed  CAS  Google Scholar 

  63. Yatani A, Brown AM. Rapid I3-adrenergic modulation of cardiac calcium channel currents by a fast G protein pathway. Science 1989; 245: 71–74.

    Article  PubMed  CAS  Google Scholar 

  64. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. Isolation and characterization of the human Gsa gene. Proc Natl Acad Sci USA 1988; 85: 2081–2085.

    Article  PubMed  CAS  Google Scholar 

  65. Bray P, Carter A, Simons C, Guo V, Puckett C, Kamholz J, et al. Human cDNA clones for four species of Gsa signal transduction protein. Proc Natl Acad Sci USA 1986; 83: 8893–8897.

    Article  PubMed  CAS  Google Scholar 

  66. Ishikawa Y, Bianchi C, Nadal-Ginard B, Homcy CJ. Alternative promoter and 5’ exon generate a novel Gsa mRNA. J Biol Chem 1990; 265: 8458–8462.

    PubMed  CAS  Google Scholar 

  67. Kehlenbach RH, Matthey J, Huttner WB. XLas is a new type of G protein. Nature 1994; 372: 804–808.

    PubMed  CAS  Google Scholar 

  68. Cooper DMF, Mons N, Karpen JW. Adenylyl cyclases and the interaction between calcium and cAMP signaling. Nature 1995; 374: 421–424.

    Article  PubMed  CAS  Google Scholar 

  69. Taussig R, Gilman AG. Mammalian membrane-bound adenylyl cyclases. J Biol Chem 1995; 270: 1–4.

    Article  PubMed  CAS  Google Scholar 

  70. Warner DR, Gejman PV, Collins RM, Weinstein LS. A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism [In Process Citation]. Mol Endocrinol. 1997; 11: 1718–1727.

    Article  PubMed  CAS  Google Scholar 

  71. 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;269:25, 387–25, 391.

    Google Scholar 

  72. Farfel Z, Iiri T, Shapira H, Roitman A, Mouallem M, Bourne HR. Pseudohypoparathyroidism, a novel mutation in the 13y-contact region of Gsa impairs receptor stimulation. J Biol Chem 1996;271: 19, 653–19, 655.

    Google Scholar 

  73. Schwindinger WF, Reese KJ, Lawler AM, Gearhart JD, Levine MA. Targeted disruption of Gnas in embryonic stem cells. Endocrinology 1997; 138: 4058–4063.

    Article  PubMed  CAS  Google Scholar 

  74. Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L. GTPase inhibiting mutations activate the oc chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 1989; 340: 692–696.

    Article  PubMed  CAS  Google Scholar 

  75. Vallar L, Spada A, Giannattasio G. Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature 1987; 330: 566–568.

    Article  PubMed  CAS  Google Scholar 

  76. McCune DJ, Bruch H. Osteodystrophia fibrosa. Am J Dis Child 1937; 54: 806–848.

    Google Scholar 

  77. Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation, and endocrine dysfunction, with precocious puberty in females. N Engl J Med 1937; 216: 727–741.

    Article  Google Scholar 

  78. 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.

    Article  PubMed  CAS  Google Scholar 

  79. Schwindinger WF, Yang SQ, Miskovsky EP, Diehl AM, Levine MA. An activating Gsoc mutation is present in McCune-Albright syndrome and increases hepatic adenylyl cyclase activity. In: Program and Abstracts 75th Annual Meeting. The Endocrine Society Press, Bethesda, MD, 1994, p. 517 [Abstract].

    Google Scholar 

  80. Shenker A, Sweet DE, Spiegel AM, Weinstein LS. An activating Gsa mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab 1994; 79: 750–775.

    Article  PubMed  CAS  Google Scholar 

  81. Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, et al. Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of the stimulatory G protein Gs. J Pediatr 1993; 123: 509–518.

    Article  PubMed  CAS  Google Scholar 

  82. Happle R. The Mc Cune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet 1986; 29: 321–324.

    Article  PubMed  CAS  Google Scholar 

  83. 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: 164–168.

    Article  PubMed  CAS  Google Scholar 

  84. Furlong TJ, Seshadri MS, Wilkinson MR, Cornish CJ, Luttrell B, Posen S. Clinical experiences with human parathyroid hormone 1–34. Aust NZ J Med 1986; 16: 794–798.

    CAS  Google Scholar 

  85. 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: 267–273.

    Article  PubMed  CAS  Google Scholar 

  86. Mallette LE, Kirkland JL, Gagel RF, Law WM Jr, Heath HD. Synthetic human parathyroid hormone-(1–34) for the study of pseudohypoparathyroidism. J Clin Endocrinol Metab 1988; 67: 964–972.

    Article  PubMed  CAS  Google Scholar 

  87. Walton RJ, Bijvoet OLM. Nomogram for derivation of renal threshold phosphate concentration. Lancet 1975; 2: 309–310.

    Article  PubMed  CAS  Google Scholar 

  88. Mautalen CA, Dymling J-F, Harwith M. Pseudohypoparathyroidism 1942–1966. A negative progress report. Am J Med 1967; 42: 977–985.

    Article  PubMed  CAS  Google Scholar 

  89. Yu S, Yu D, Lee E, Eckhaus M, Accili D, Westphal H, et al. Pleiotropic and parent-of-origin specific abnormalities in Gsa knockout mice. In: 79th Annual Meeting Program and Abstracts. The Endocrine Society Press, Bethesda, MD, 1997, p. 110.

    Google Scholar 

  90. Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, 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: 1412–1419.

    Article  PubMed  CAS  Google Scholar 

  91. Jan de Beur SM, Deng Z, Levine MA. 1997, unpublished results.

    Google Scholar 

  92. 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.

    Article  PubMed  CAS  Google Scholar 

  93. Luttikhuis ME, Wilson LC, Leonard, JV, Trembath RC. Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. Genomics 1994; 21: 455–457.

    Article  PubMed  CAS  Google Scholar 

  94. Shapira H, Mouallem M, Shapiro MS, Weisman Y, Farfel Z. Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. Hum Genet 1996; 97: 73–75.

    Article  PubMed  CAS  Google Scholar 

  95. Weinstein LS, Gejman PV, de Mazancourt P, American N, Spiegel AM. A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS 1) in a patient with Albright hereditary osteodystrophy. Genomics 1992; 13: 1319–1321.

    Article  PubMed  CAS  Google Scholar 

  96. Yokoyama M, Takeda K, Iyota K, Okabayashi T, Hashimoto K. A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism. J Endocrinol Invest 1996; 19: 236–241.

    PubMed  CAS  Google Scholar 

  97. Dixon PH, Ahmed SF, Bonthron DT, Barr DGD, Kelnar CJH, Thakker RV. Mutational analysis of the GNAS1 gene in pseudohypoparathyroidism. J Bone Min Res 1996;1 1(Suppl 1 ), S494.

    Google Scholar 

  98. Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87: 8287–90.

    Article  PubMed  CAS  Google Scholar 

  99. Smallwood PM, Aparicio LF, Schwindinger WF, Levine MA. Pseudohypoparathyroidism type IB caused by a novel missense mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase. In: Program and Abstracts 76th Annual Meeting. The Endocrine Society Press, Bethesda, MD, 1994, p. 651 [Abstract].

    Google Scholar 

  100. Levine MA, Eil C, Downs RW Jr, Spiegel AM. Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. a cause of impaired synthesis of 3’,5’-cyclic AMP by intact and broken cells. J Clin Invest 1983; 72: 316–324.

    Article  PubMed  CAS  Google Scholar 

  101. Bourne HR, Kaslow HR, Brickman AS, Farfel Z. Fibroblast defect in pseudohypoparathyroidism, type I: reduced activity of receptor-cyclase coupling protein. J Clin Endocrinol Metab 1981; 53: 636–640.

    Article  PubMed  CAS  Google Scholar 

  102. Marcus R, Wilber JF, Aurbach GD. Parathyroid hormone-sensitive adenylyl cyclase from the renal cortex of a patient with pseudohypoparathyroidism. J Clin Endocrinol Metab 1971; 33: 537–541.

    Article  PubMed  CAS  Google Scholar 

  103. Ish-Shalom S, Rao LG, Levine MA, Fraser D, Kooh SW, Josse RG, et al. Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. J Bone Miner Res 1996; 11: 8–14.

    Article  PubMed  CAS  Google Scholar 

  104. Mallet E, Carayon P, Amr S, Brunelle P, Ducastelle T, Basuyau JP, et al. Coupling defect of thyrotropin receptor and adenylate cyclase in a pseudohypoparathyroid patient. J Clin Endocrinol Metab 1982; 54: 1028–1032.

    Article  PubMed  CAS  Google Scholar 

  105. Farfel Z, Abood ME, Brickman AS, Boume HR. Deficient activity of receptor-cyclase coupling protein is transformed lymphoblasts of patients with pseudohypoparathyroidism, type I. J Clin Endocrinol Metab 1982; 55: 113–117.

    Article  PubMed  CAS  Google Scholar 

  106. Motulsky HJ, Hughes RJ, Brickman AS, Farfel Z, Bourne HR, Insel PA. Platelets of pseudohypoparathyroid patients: evidence that distinct receptor-cyclase coupling proteins mediate stimulation and inhibition of adenylate cyclase. Proc Natl Acad Sci USA 1982; 79: 4193–4197.

    Article  PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 1999 Springer Science+Business Media New York

About this chapter

Cite this chapter

Al-Zahrani, A., Levine, M.A., Schwindinger, W.F. (1999). Pseudohypoparathyroidism. In: Jameson, J.L. (eds) Hormone Resistance Syndromes. Contemporary Endocrinology, vol 14. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-698-0_3

Download citation

  • DOI: https://doi.org/10.1007/978-1-59259-698-0_3

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4757-5418-6

  • Online ISBN: 978-1-59259-698-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics