Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome

Hormone Research in Paediatrics

Volumn 48, Issue 3, 1997, Pages 120-130

  Marguet, C ^a   Mallet, E ^a   Basuyau, J P ^a   Martin, D ^a   Leroy, M ^a   Brunelle, P ^a  

^a University Faculty of Medicine   (France)

Author keywords

Adolescence; Albright hereditary osteodystrophy; Blood classification; Child; Clinical study; Genetics; Infant; Nucleotide GTP binding protein; Pseudo pseudohypoparathyroidism; Pseudohypoparathyroidism

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE; THYROTROPIN;

ADOLESCENT; ALBRIGHT SYNDROME; ARTICLE; BODY HEIGHT; BODY WEIGHT; CHILD; CHROMOSOME 2; CHROMOSOME ABERRATION; CLINICAL STUDY; CLINICAL TRIAL; DISEASE ASSOCIATION; DISEASE SEVERITY; FEMALE; GENETIC HETEROGENEITY; HORMONE RESISTANCE; HUMAN; HUMAN CELL; INHERITANCE; KARYOTYPE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; OSTEODYSTROPHY; PARATHYROID HORMONE BLOOD LEVEL; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC HETEROGENEITY; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; INFANT; MALE; PEDIGREE; PSEUDOHYPOPARATHYROIDISM;

EID: 0030817589     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000185501     Document Type: Article

References (53)

1. Mbright F, Burnett CH, Smith PH, Parson W: Pseudohypoparathyroidism - An example of Seabright-Bantam syndrome", Endocrinology 1942;30:922-932.
2. Werder EA: Pseudohypoparathyroidism; in Frick P, von HarnackGA, Martini GA, Prader Schocn R, WolIT HP (eds): Advances in Internal Medicine and Pediatrics, Heidelberg, Springer, 1979. vol 42. pp 191-221.
3. Ellsworth R, Howard JE: Studies on the phvsi-alogy of the parathyroid glands, VII, Some responses of normal human kidneys and blood lo intravenous parathyroid extract, Bull Johns Hopkins Hosp 1934;55:296-308.
4. Kruse K, Kracht U: A simplified diagnostic test in hypoparathyroidism and pseudohypopara-ihyroidism type I with synthetic 1-38 fragment of human parathyroid hormone, Eur J Pcdiatr 1987:146:373-377.
5. Mallcttc LE, Kirland JL, Gagel RF, Law WM, Heath H: Synthetic human parathyroid hormone 1-34 for the study of pseudohypoparathyroidism, J Clin Endocrinol Mctab 1988:67: 964-972.
6. Werder EA, Fischer JA, Illig R, Kind H, Bcr-nasconi S, Fanconi A, Prader A: Pseudohypoparathyroidism and idiopathic hypoparathyroidism: Relationship between serum calcium snd parathyroid hormone levels and urinary cyclic adenosine-3,5-monophosphatc response to parathyroid extract, J Clin Endocrinol Metab 1978;46:872-879.
7. Bimbaumer L, Codina J, Mattcra R, Yatani A, Scherer N, Toro MJ, Brown AM: Signal transduction by G proteins, Kidney Int 1987:32: S14-S37.
8. Boumc HR, Kaslow HR, Brickman AS, Farfcl Z: Fibroblast defect in pseudohypoparathyroidism type I: Reduced activity of rcceptor-;yclase coupling protein, J Clin Endocrinol Mctab 1981;53:636-640.
9. Farfel Z, Abood ME, Brickman AS, Bourne HR: Deficient activity of receptor-cyclase coupling protein in transformed lymphoblasts of patients with pseudohypoparathyroidism, type I, J Clin Endocrinol Metab 1982:55:113-117.
10. Motulskv HJ, Hughes RJ, Brickman AS, Farfcl H, Boumc HR, Insel PA: Platelets of pseudohv-poparathyroid patients: Evidence that distinct receptor-cyclase coupling proteins mediate stimulation and inhibition of adenylate cy-:lase, Proc Natl Acad Sei USA 1982:79:4193-4197.
11. Radeke LLH, Aufmkolk B, Jiippner H, Krohr HP, Keck E, Hcsch RD: Multiple pre- anc post-receptor defects in pseudohypoparathyroidism (a multicenter study with twenty-foui patients), J Clin Endocrinol Metab 1986:62 393-402.
12. Akita Y, Saito T, Yajima Y, Sakuma S: The stimulatory and inhibitory guanine nucleotidt binding proteins of adenylate cyclase in ervth rocvtes from patients with pseudohypoparathyroidism type I, J Clin Endocrinol Metab 1985 61:1012-1017.
13. Fischer JA, Bourne HR, Dambacher MA Tschopp F, De Meyer R, Devogclaer JP, Wcr-dcr EA, Nagant de Deuxchaisne C: Pseudohypoparathyroidism: Inheritance and expressior of deficient receptor-cyclase coupling proteir activity, Clin Endocrinol 1983:19:747-754.
14. Levine MA, Downs RW, Singer M, Marx SJ Aurbach GD, Spiegel AM: Deficient activity ol guanine nucleotide regulatory protein in ery throcytes from patients with pseudohypoparathyroidism, Biochem Biophys RcsCommun 1980 94:1319-1324.
15. Saito T, Akita Y, Fujita H, Furukawa Y, Tsu chiva Y, Yasuda T, Yamamoto M, Kitagawa T Nakagawa Y, Takehiro A, Fujita T, Kodama S Kuzuya T: Stimulatory guanine nucleotidt binding protein activity in the erythrocytt membrane of patients with pseudohypoparathyroidism type I and related disorders, Acts Endocrinol 1986:111:507-515.
16. Carter A, Bardin C, Collins R, Simons C, Bray P, Spiegel A: Reduced expression of multipit forms of the a subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism tvpe la, Proc Natl Acad Sci USA 1987:84 7266-7269.
17. Levine MA, Jap TS, Mauscth RS, Downs RW Spiegel AM: Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopscudohypoparathy-roidism: Biochemical, endocrine, and genelit analysis of Albright's hereditary osteodystrophy in six kindreds, J Clin Endocrinol Metat 1986;62:497-502.
18. Levine MA, Downs RW', Moses AM: Resistance to multiple hormones in patients with pseudohypoparathyroidism, association will: deficient activity of guanine nucleotide regulatory protein, Am J Med 1983:74:545-556.
19. Kerr D, Hosking DJ: Pseudohypoparathyroidism: Clinical manifestations of PTH resistance, Q J Med 1987;65:889-894.
20. Tomlinson S, Hendy GN, O'Riordan JLH: A simplified assessment of response to parathyroid hormone in hypoparalhyroid patients, Lancet 1976;1:62-64.
21. Mallet E, Marguet C, Basuvau JP, Caulin F, Brunclle Ph: Pediatric use of synthetic human parathyroid hormone liPTH 1-34 infusion test in hypoparathyroidism, Bone Miner 1992: 17(1): 120.
22. Marguet C, Basuyau JP, Brunclle Ph, Fessard C, Mallet E: GTP-dependent protein (Gs) activity in preterm infants, Biol Neonate 1992: 62:113-119.
23. Sempe M, Pedron C, Roy-Pcmot MP: Auxo-logie, méthodes el séquences, Paris, Thcraplix, 1979.
24. Triicb RM, Panizzon RG, Burg G: Cutaneous ossification in Albright's hereditary osteodystrophy, Dermatology 1993:186:205-209.
25. Downs RW, Levine MA, Drezncr MK: Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism, J Clin Invest 1983:71: 231-235.
26. Shapira H, Mouallcm M, Shapiro MS, Wcis-man Y, Farfel Z: Pseudohypoparathyroidism type la: Two new heterozvgotous framcshift mutations in exons 5 and 10 of the Gs alpha gene, Hum Genet 1996:97:73-75.
27. Patten J I, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA: 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.
28. Phelan MC, Rogers RC, Clarkson KB, Bowycr FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB: Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals, Am J Med Genet 1995:58:1-7.
29. Slogmann W, Fischer JA: Pseudohypoparathyroidism: Disappearance of the resistance to parathyroid extract during treatment with vitamin D, Am J Med 1975:59:140-144.
30. Silve C, Suarez F, El Hessni A, Loiseau A, Graulet AM, Guéris J: The resistance to parathyroid hormone of fibroblasts from some patients with type lb pseudohypoparathyroidism is reversible with dcxamethasone, J Clin Endocrinol Metab 1990;71:631-638.
31. Suarez F, Lebrun JJ, Lecossier D, Excoubct B, Courcau C, Silve C: Expression and modulation of the parathyroid hormone PTH/PTH-relatcd peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type lb pseudohypoparathyroidism, J Clin Endocrinol Metab 1995:80:965-970.
32. Spiegel AM, Shenker A, Weinstein LS: Receptor effector coupling by G proteins: Implications for normal and abnormal signal transduction, EndocrRev 1992;13:536-565.
33. Spiegel AM: Albright's hereditary osteodystrophy and defective G proteins, N Engl J Med 1990:322:1461-1462.
34. Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR: Defect of receptor-cyclasc coupling protein in pseudohypoparathyroidism, N Engl J Med 1980;303:237-242.
35. Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne HR: Pseudohypoparathyroidism: Inheritance of deficient receptor-cyclase coupling activity, Proc Natl Acad Sci USA 1981;78:3098-3102.
36. Koch T, Lchnhardt E, Bottingcr H, Pleuffcr T, Palm D, Fischer B, Radeke H: Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: Results of a multiccntre study, Eur J Clin Invest 1990:20:416-421.
37. Farfel Z, Friedman E: Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency, Ann Intern Med 1986;105:197-199.
38. Mallet E, Carayon P, Amr S, Brunelle Ph, Ducastcllc T, Basuvau JP, H de Menibus C: Coupling defect thyrotropin receptor and adenylate cyclase in a pseudohypoparalhyroid patient, J Clin Endocrinol Metab 1982:54:1028- 1032.
39. Barrett D, Breslau NA, Wax MB, Molinoff PB, Downs RW: New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase, Am J Physiol 1989:257:E277-E283.
40. Brickman AS, Carlson HE, Levin SR: Responses to glucagon infusion in pseudohypoparathyroidism, J Clin Endocrinol Metab 1986; 63:1354-1360.
41. Faull CM, Welburry RR, Paul B: Pseudohypoparathyroidism: Its phenotypic variability and associated disorders in a large family, Q J Med 1991;78:251-264.
42. Fitch N: Albright’s hereditary osteodystrophy: A review, Am J Med Genet 1982; 11:11-29.
43. Marx SJ, Hershman JM, Aurbach GD: Thyroid dysfunction in pseudohypoparathyroidism, J Clin Endocrinol Metab 1971;33:822- 828.
44. Van Dop C: Pseudohypoparathyroidism: Clinical and molecular aspects, Semin Nephrol 1989:9:168-178.
45. Yokoro S, Matsuo M, Ohtsuka T, Ohzeki T: Hypcrthyrotropinemia in a neonate with normal thyroid hormone levels: The earliest diagnostic clue for pseudohypoparathyroidism, Biol Neonate 1990:58:69-72.
46. Wolfsdorf JI, Rosenficld RL, Fang VS, Ko-bayashi R, Razdan AK, Kim MH: Partial gonadotrophin resistance in pseudohypoparathyroidism, Acta Endocrinol 1978:88:321-328.
47. Stirling HF, Barr DGD, Kelnar CJH: Familial growth hormone releasing factor deficiency in pscudopscudohypoparathyroidism, Arch Dis Child 1991:66:533-535. "
48. Izraeli S, Metzker A, Horev G, Karmi D, Mer-lob 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 1992:43:764-767.
49. Breslau NA: Pseudohypoparathyroidism: Current concept, Am J Med Sei 1989:298:130- 140.
50. Barr DGD, Stirling HF, Darling JAB: Evolution of pseudohypoparathyroidism: An informative family study, Arch Dis Child 1994:70: 337-338.
51. Pollard AJ, Prendergast M, Al-Hammouri F, Rayner PHW, Shaw NJ: Different subtypes of pseudohypoparathyroidism in the same family with an unusual psychiatric presentation of the index case, Arch Dis Child 1994:70:99-102.
52. Van Dop C, Boume HR, Neer RM: Father to son transmission of decreased Ns activity in pseudohypoparathyroidism tvpe la, J Clin Endocrinol Metab 1984:59:825-828.
53. Davies SJ, Hughes HE: Imprinting in Albright’s hereditary osteodystrophy, J Med Genet 1993:30:101-103