Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue SUPPL. 2, 2006, Pages 653-661

  Wémeau, Jean Louis ^a   Balavoine, Anne Sophie ^a   Ladsous, Miriam ^a   Velayoudom Cephise, Fritz Line ^a   Vlaeminck Guillem, Virginie ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Calcitonin; Hormonal resistance; Pseudohypoparathyroidism; PTH; PTHrP; TSH

Indexed keywords

CALCITONIN; CALCIUM; CATECHOLAMINE DERIVATIVE; CORTICOTROPIN; GLUCAGON; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; HYPOPHYSIS HORMONE; HYPOTHALAMUS HORMONE; LEPTIN; LEVOTHYROXINE; PARATHYROID HORMONE; PARATHYROID HORMONE RELATED PROTEIN; PROTIRELIN; THYROTROPIN; VASOPRESSIN; VITAMIN D;

ALBRIGHT SYNDROME; ARTICLE; BONE REMODELING; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; HORMONAL THERAPY; HORMONE RESISTANCE; HUMAN; HYPOCALCEMIA; NONHUMAN; PARATHYROID HORMONE BLOOD LEVEL; PATHOPHYSIOLOGY; PHENOTYPE; PROTEIN LOCALIZATION; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; VITAMIN SUPPLEMENTATION;

HEARING; HORMONES; HUMANS; PARATHYROID HORMONE; PARATHYROID HORMONE-RELATED PROTEIN; PHENOTYPE; PSEUDOHYPOPARATHYROIDISM; RECEPTORS, CALCIUM-SENSING; SENSORY THRESHOLDS; SMELL; TASTE; THYROTROPIN; VISION;

EID: 33745262610     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (72)

1. Albright F, Burnett CH, Smith PH. Pseudohypoparathyroidism - an example of the "Seabright-Bantam syndrome". Endocrinology 1942; 30: 922-932.
2. 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.
3. Spiegel AM, Eastman ST, Attie MF, Downs RW Jr, Levine MA, Marx SJ, Stock JL, Saxe AW, Brennan MF, Aurbach GD. Intraoperative measurements of urinary cyclic AMP to guide surgery for primary hyperparathyroidism. N Engl J Med 1980; 303: 1457-1460.
4. 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.
5. Mallette LE, Kirkland JL, Gagel RF, Law WM Jr, Heath H 3rd. Synthetic human parathyroid hormone-(1-34) for the study of pseudohypoparathyroidism. J Clin Endocrinol Metab 1988; 67: 964-972.
6. Chase LR, Melson GL, Aurbach GD. Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J Clin Invest 1969; 48: 1832-1944.
7. Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. Activity of the stimulatory guanine nucleotidebinding 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.
8. Tomlinson S, Hendy GN, O'Riordan JH. A simplified assessment of response to parathyroid hormone in hypoparathyroid patients. Lancet 1976; i: 62-64.
9. 2D synthesis in hypoparathyroidism and pseudohypoparathyroidism. Am J Physiol 1988; 255: E730-736.
10. Levine MA, Schwindinger WF, Downs RW, Moses AM. Pseudohypoparathyroidism. Clinical, biochemical and molecular features. In: Biezikian JP, Marcus RM, Levine MA, eds. The Parathyroids. Basic and Clinical Concepts. New York: Raven Press, 1994; 781-800.
11. Frame B, Hanson CA, Frost HM, Block M, Arnstein AR. Renal resistance to parathyroid hormone with osteitis fibrosa: "pseudohypohypexparathyroidism". Am J Med 1972; 52: 311-321.
12. 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.
13. Wémeau JL, Duquesnoy B, Grimbert I, Hubaud P, Hardouin P, Lemaitre G, Fossati P, Decoulx M. Sensibilité de l'os à la parathormone dans les pseudohypoparathyroïdies de type 1. Ann Med Interne 1986; 137: 220-225.
14. Breslau NA, Moses AM, Pak CY. Evidence for bone remodeling but lack of calcium mobilization response to parathyroid hormone in pseudohypoparathyroidism. J Clin Endocrinol Metab 1983; 57: 638-644.
15. Spiegel AM, Levine MA, Aurbach GD, Downs RW Jr, Marx SJ, Lasker RD, Moses AM, Breslau NA. Deficiency of hormone receptor-adenylate cyclase coupling protein: basis for hormone resistance in pseudohypoparathyroidism. Am J Physiol 1982; 243: E37-E42.
16. 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: 1055-1060.
17. Albright F, Forbes AP, Henneman PH. Pseudopseudohypoparathyroidism. Trans Assoc Am Physicians 1952; 65: 337-350.
18. Vlaeminck-Guillem V, Wémeau JL. Les pseudohypoparathyroïdies et le concept de résistance hormonale. Presse Med 1999; 28: 1433-1437.
19. Vlaeminck-Guillem V, Wémeau JL. Types Ia et Ic. Presse Med 1999; 28: 1438-1441.
20. Vlaeminck-Guillem V, Wémeau JL. Types Ib et II. Presse Med 1999; 28: 1442-1447.
21. Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87: 8287-8290.
22. Chattopadhyay N, Mithal A, Brown EM. The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism. Endocr Rev 1996; 17: 289-307. Erratum in: Endocr Rev 1996; 17: 517.
23. Burtis WJ, Brady TG, Orloff JJ, Ersbak JB, Warrell RP Jr, Olson BR, Wu TL, Mitnick ME, Broadus AE, Stewart AF. Immunochemical characterization of circulating parathyroid hormone-related protein in patients with humoral hypercalcemia of cancer. N Engl J Med 1990; 322: 1106-1112.
24. Clemens TL, Cormier S, Eichinger A, Endlich K, Fiaschi-Taesch N, Fischer E, Friedman PA, Karaplis AC, Massfelder T, Rossert J, Schluter KD, Silve C, Stewart AF, Takane K, Helwig JJ. Parathyroid hormone-related protein and its receptors: nuclear functions and roles in the renal and cardiovascular systems, the placental trophoblasts and the pancreatic islets. Br J Pharmacol 2001; 134: 1113-1136.
25. 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.
26. Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LH, Ho C, Mulligan RC, Abou-Samra AB, Juppner H, Segre GV, Kronenberg HM. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 1996; 273: 663-666.
27. Lania A, Mantovani G, Spada A. G protein mutations in endocrine diseases. Eur J Endocrinol 2001; 145: 543-559.
28. Qian J, Colbert MC, Witte D, Kuan CY, Gruenstein E, Osinska H, Lanske B, Kronenberg HM, Clemens TL. Midgestational lethality in mice lacking the parathyroid hormone (PTH)/PTH-related peptide receptor is associated with abrupt cardiomyocyte death. Endocrinology 2003; 144: 1053-1061.
29. Wagar G, Lehtivuori J, Salven I, Backman R, Sivula A. Pseudohypoparathyroidism associated with hypercalcitoninaemia. Acta Endocrinol (Copenh) 1980; 93: 43-48.
30. Vlaeminck-Guillem V, d'Herbomez M, Pigny P, Fayard A, Bauters C, Decoulx M, Wemeau JL. Pseudohypoparathyroidism Ia and hypercalcitoninemia. J Clin Endocrinol Metab 2001; 86: 3091-3096.
31. Mallet E, Carayon P, Amr S, Brunelle P, Ducastelle T, Basuyau JP, de Menibus CH. Coupling defect of thyrotropin receptor and adenylate cyclase in a pseudohypoparathyroid patient. J Clin Endocrinol Metab 1982; 54: 1028-1032.
32. Levine MA, Jap TS, Hung W. Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia. J Pediatr 1985; 107: 919-922.
33. Weisman Y, Golander A, Spirer Z, Farfel Z. Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism. J Pediatr 1985; 107: 413-415.
34. Yokoro S, Matsuo M, Ohtsuka T, Ohzeki T. Hyperthyrotropinemia in a neonate with normal thyroid hormone levels: the earliest diagnostic clue for pseudohypoparathyroidism. Biol Neonate 1990; 58: 69-72.
35. Riepe FG, Ahrens W, Krone N, Folster-Holst R, Brasch J, Sippell WG, Hiort O, Partsch CJ. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol 2005; 152: 515-519.
36. 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: 536-538.
37. David M, Madjar JJ, Floret D, Sann L, Terrier M, Jeune M. Albright's type II osteodystrophy and hypothyroidism due to TSH deficiency. Apropos of a case in a child. Arch Fr Pediatr 1977; 34: 108-129.
38. Kabadi UM, Cech RP. Inhibited hypothalamic-pituitary-thyroid axis in type I pseudohypoparathyroidism. Endocr Pract 1999; 5: 61-65.
39. Balavoine AS, Ladsous M, Velayoudoin FL, Vlaeminck V, Bauters C, d'Herbomez M, Wémeau JL. Hypothyroidism for patients with pseudohypoparathyroidism type Ia: Resistance to TSH and/or to TRH. 5th European Congress of Endocrinology, 2005, Göteborg, p 270-271, Abst P3-98.
40. Spencer CA, Schwarzbein D, Guttler RB, LoPresti JS, Nicoloff JT. Thyrotropin (TSH)-releasing hormone stimulation test responses employing third and fourth generation TSH assays. J Clin Endocrinol Metab 1993; 76: 494498.
41. Carlson HE, Brickman AS, Bottazzo GF. Prolactin deficiency in pseudohypoparathyroidism. N Engl J Med 1977; 296: 140-144.
42. Kruse K, Kracht U. Inhibitory effect of calcium on serum prolactin. Acta Endocrinol (Copenh) 1981; 98: 339-344.
43. 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.
44. Wolfsdorf JI, Rosenfield RL, Fang VS, Kobayashi R, Razdan AK, Kim MH. Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol (Copenh) 1978; 88: 321-328.
45. Brickman AS, Carlson HE, Levin SR. Responses to glucagon infusion in pseudohypoparathyroidism. J Clin Endocrinol Metab 1986; 63: 1354-1360.
46. Berardinelli W. Pseudo-hypoparathyrpidism with decreased glucose tolerance and diabetes insipidus. Acta Endocrinol (Copenh) 1951; 7: 7-16.
47. Emanuelli G, Pellegrini A. On a case of pseudopseudohypoparathyroidism with osteitis fibrosa, diabetes mellitus and diabetes insipidus. Minerva Med 1968; 59: 681-689.
48. Brickman AS, Weitzman RE. Renal resistance to arginine vasopressin in pseudohypoparathyrodism. Clin Res 1978; 26: 164.
49. 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.
50. 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.
51. sα gene. Proc Natl Acad Sci USA 1998; 95: 8715-8720.
52. Sakaguchi H, Sanke T, Ohagi S, Iiri T, Nanjo K. A case of Albright's hereditary osteodystrophy-like syndrome complicated by several endocrinopathies: normal Gs alpha gene and chromosome 2q37. J Clin Endocrinol Metab 1998; 83: 1563-1565.
53. 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.
54. Coutant R, Carel JC, Mathivon L, Boisson Lesage C, Renier D, Garabédian M, Chaussain JL. Hypothyroïdie compensée révélant une pseudohypoparathyroïdie en l'absence d'hypocalcémie et d'hyperphosphorémie. Arch Pediatr 1997; 4: 433-437.
55. 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 Yi Xue Hui Za Zhi 1989; 88: 450-455.
56. 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.
57. 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.
58. 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 Ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab 2003; 88: 4070-4074.
59. s alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 2001; 107: R31-R36.
60. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type Ia: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003; 88: 4059-4069.
61. Ong OC, Dop CV, Fung BK. Real-time monitoring of reduced beta-adrenergic response in fibroblasts from patients with pseudohypoparathyroidism. Anal Biochem 1996; 238: 76-81.
62. Kaartinen JM, Kaar ML, Ohisalo JJ. Defective stimulation of adipocyte adenylate cyclase, blunted lipolysis, and obesity in pseudohypoparathyroidism Ia. Pediatr Res 1994; 35: 594-597.
63. Ong KK, Amin R, Dunger DB. Pseudohypoparathyroidism-another monogenic obesity syndrome. Clin Endocrinol (Oxf) 2000; 52: 389-391.
64. Henkin RI. Impairment of olfaction and of the tastes of sour and bitter in pseudohypoparathyroidism. J Clin Endocrinol Metab 1968; 28: 624-628.
65. 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.
66. 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.
67. 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: 1111-1114.
68. Koch T, Lehnhardt E, Bottinger H, Pfeuffer T, Palm D, Fischer B, Radeke H, Hesch RD. 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.
69. LaRouere MJ, Coleman G, Telian SA, Kemink JL. Malleus head fixation: association with pseudohypoparathyroidism. Am J Otol 1990; 11: 354-356.
70. Levine MA, Schwindinger WF, Downs RW Jr. Pseudohypoparathyroidism. Clinical, biochemical, and molecular features. In: Bileezikian JP, ed. The Parathyroids. New York: Raven Press, 1994; 781-800.
71. Ellie E, Julien J, Ferrer X, Riss I, Durquety MC. Extensive cerebral calcification and retinal changes in pseudohypoparathyroidism. J Neurol 1989; 236: 432-434.
72. 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 (Abst 1371).