Advertisement

Der Internist pp 445-456 | Cite as

Rezeptorstörungen in der Endokrinologie

  • O.-.A Müller
  • K. von Werder
Chapter

Zusammenfassung

Endokrine Unterfunktionszustände im Hinblick auf ein bestimmtes Hormon können in seltenen Fällen durch einen Rezeptordefekt bedingt sein. Abgehandelt werden die wichtigsten Störungen dieser Art, ihre Pathophysiologie mit klinischem Erscheinungsbild und auch ihre therapeutischen Möglichkeiten. Die Ausführungen im einzelnen beziehen sich auf den renalen Diabetes insipidus, auf die Wachstumshormonresistenz, auf die Resistenz auf ACTH, Gonadotropine, Androgene, Vitamin D, ferner stehen der Pseudohypoparathyreoidismus, der Pseudohypoaldosteronismus und die partielle Schilddrüsenhor-monresistenz zur Erörterung. Auch auf die TSH-, Pseudo-Corpus-luteum- und die familiäre Kortisolresistenz als ausgesprochene Raritäten wird hingewiesen.

Schlüsselwörter:

Hormonresistenz Rezeptorstörung Differentialdiagnostik Therapie 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. 1.
    Albright F, Burnett CH, Smith PH, Parson W (1942) Pseudohypoparathyreoid-ism — an example of Seabright-Bantam Syndrome. Report of three cases. Endocrinology 30:922Google Scholar
  2. 2.
    Albright F, Buttler AM, Bloomberg E (1937) Rickets resistant to vitamin D therapy. Am J Dis Child 54:531Google Scholar
  3. 3.
    Andreoli TE, Schafer JA (1978) Nephrogenic diabetes insipidus. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill; New York p 1634Google Scholar
  4. 4.
    Armanini D, Kuhnle U, Strasser T, Dorr H, Butenandt I, Weber PC, Stockigt JR, Pearce P, Funder JW (1985) Pseudohy-poaldosteronism: demonstration of aldosterone receptor deficiency. N Engl J Med 313:1178PubMedCrossRefGoogle Scholar
  5. 5.
    Bartter FC, Pronove P, Gill JR, Mac-Cardle RC (1962) Hyperplasia of the juxtaglomerular complex with hyperal-dosteronism and hypokalemic alkalosis. Am J Med 33:811PubMedCrossRefGoogle Scholar
  6. 6.
    Beck-Peccoz P, Amr S, Ferreira MM, Faglia G, Weintraub BD (1985) Decreased receptor binding of biologically inactive thyrotropin in central hypothyr-eoidism. N Engl J Med 312:1085PubMedCrossRefGoogle Scholar
  7. 7.
    Bierich JR, Möller H, Ranke MB, Rosenfeld RG (1984) Pseudopituitary due to resistance to somatomedin: A new syndrome. Eur J Pediatr 142:186PubMedCrossRefGoogle Scholar
  8. 8.
    Bode HH, Darron M, Weintraub BD, Maloof F, Crawford JD (1973) Partial target organ resistance to thyroid hormone. J Clin Invest 52:776PubMedCentralPubMedCrossRefGoogle Scholar
  9. 9.
    Brickman AS, Carlson HE (1987) Pseu-dohypoparathyreoidism: Target Organ Resistance to Parathyroid Hormone and Other Metabolic Defects. In: Cohen MP, Foà PP (eds) Hormone resistance and other endocrine paradoxes. Springer Berlin Heidelberg New York, p 92Google Scholar
  10. 10.
    Brooks MH, Bell NH, Love L, Stern PH, Orfei E, Queener SF, Hamstra AJ, DeLuca HF (1978) Vitamin-D-Dependent Rickets Type II: Resistance of Target Organs to 1,25-Dihydroxyvitamin D. N Engl J Med 298:996PubMedCrossRefGoogle Scholar
  11. 11.
    Buchborn E (1968) Störungen der Harnkonkentierung. In: Mohr L, Staehelin R, Schwiegk H (eds) Handbuch der Inneren Medizin. Springer, Berlin Heidelberg New York, p 491Google Scholar
  12. 12.
    Chase LR, Melson GL, Aurbach GD (1969) Pseudohypoparathyreoidism: Defective excretion of 3’5’-AMP in response to parathyroid hormone. J Clin Invest 48:1832PubMedCentralPubMedCrossRefGoogle Scholar
  13. 13.
    Cheek DB, Perry JW (1958) A salt wasting syndrome in infancy. Arch Dis Child 33:252PubMedCrossRefGoogle Scholar
  14. 14.
    Chrousos GP, Vingerhoeds ACM, Loriaux DL, Lipsett MB (1983) Primary Cortisol resistance: a family study. J Clin Endocrinol Metab 51:654Google Scholar
  15. 15.
    Cooper DS, Ladenson PW, Nisula BC, Dunn JF, Chapman EM, Ridgway EC (1982) Familial thyroid hormone resistance. Metabolism 31:504PubMedCrossRefGoogle Scholar
  16. 16.
    Crawford JD, Adams RD, Kliman B, Federman DD, Ulfelder HS, Holmes LB (1970) Syndromes of testicular feminization: an informal appraisal and review of the latest advances in insights, with special emphasis on pathogenesis, biochemical mechanisms at work and psychosocial clinical problems. Clin Pediatr 9:165CrossRefGoogle Scholar
  17. 17.
    Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR (1980) Defect of receptor-cyclase coupling protein in pseudohypoparathyreoidism. N Engl J Med 303:237PubMedCrossRefGoogle Scholar
  18. 18.
    Fichman MP, Brooker G (1972) Deficient renal cyclic adenosine 3’, 5’ monophosphate production in nephrogenic diabetes insidipus. J Clin Endocrinol Metab 35:35PubMedCrossRefGoogle Scholar
  19. 19.
    Fichman MP, Telfer N, Zia P, Speckart P, Golub M, Rude R (1976) Role of prostaglandins in the pathogenesis of Baxter’s syndrome. Am J Med 60:785PubMedCrossRefGoogle Scholar
  20. 20.
    Fraser D, Kooh SV, Kind HP, Holick MF, Tanaka Y, DeLuca HF, (1973) Pathogenesis of hereditary vitamin-D-dependent rickets. N Engl J Med 289:817PubMedCrossRefGoogle Scholar
  21. 21.
    Gershengorn MC, Weintraub BD (1975) Thyrotropin-induced hyperparathyr-eoidism caused by selective pituitary resistance to thyroid hormone. J Clin Invest 56:633PubMedCentralPubMedCrossRefGoogle Scholar
  22. 22.
    Gilbert-Dreyfus S, Sébanoun CA, Belaisch J (1957) Étude d’un cas familial d’androgynoidisme avec hypospadias grave, gynécomastie et hyperoestrogén-ie. Ann Endocrinol 18:93Google Scholar
  23. 23.
    Golde DW, Bersch N, Kaplan SA, Rimoin DL, Li CH (1980) Peripheral unresponsiveness to human growth hormone in laron dwarfism. N Engl J Med 303:1156PubMedCrossRefGoogle Scholar
  24. 24.
    Golde DW, Bersch N, Li CH (1977) Growth hormone: species-specific stimulation of erythropoiesis in vitro. Science 196:1112PubMedCrossRefGoogle Scholar
  25. 25.
    Griffin JE (1979) Testicular feminization associated with a thermolabile androgen receptor in cultured human fibroblasts. J Clin Invest 64:1624PubMedCentralPubMedCrossRefGoogle Scholar
  26. 26.
    Griffin JE, Wilson JD (1977) Studies on the pathogenesis of the incomplete forms of androgen resistance in man. J Clin Endocrinol Metab 45:1137PubMedCrossRefGoogle Scholar
  27. 27.
    Griffin JE, Wilson JD (1980) The syndromes of androgen resistance. N Engl J Med 302:198PubMedCrossRefGoogle Scholar
  28. 28.
    Guler HP, Zapf J, Froesch ER (1987) Short-term metabolic effects of recombinant human insulin-like growth factor I in healthy adults. N Engl J Med 317:137PubMedCrossRefGoogle Scholar
  29. 29.
    Holliday M, Burstin C, Hurrah J (1963) Evidence that the antidiuretic substance in the plasma of children with nephrogenic diabetes insipidus is antidiuretic hormone. Pediatrics 32:384PubMedGoogle Scholar
  30. 30.
    Iida S, Gomi M, Moriwaki K, Itoh Y, Hirobe K, Matsuzawa Y, Katagiri S, Yonezawa T, Turui S (1985) Primary Cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family. J Clin Endocrinol Metab 60:967PubMedCrossRefGoogle Scholar
  31. 31.
    Illig R, Krawczynska H, Torresani T et al. (1975) Elevated plasma TSH and hypothyreoidism in children with hypothalamic hypopituitarism. J Clin Endocrinol Metab 41:722PubMedCrossRefGoogle Scholar
  32. 32.
    Jacobs LS, Sneid DS, Garland JT, Laron Z, Daughaday WH (1976) Receptor-active growth hormone in Laron dwarfism. J Clin Endocrinol Metab 42:403PubMedCrossRefGoogle Scholar
  33. 33.
    Jones GS, De Moraes-Ruehsen M (1969) A new syndrome of amenorrhoea in association with hypergonadotropism and apparently normal ovarian follicular apparatus. Am J Obstet Gynecol 104: 597PubMedGoogle Scholar
  34. 34.
    Jost A (1961) The role of fetal hormones in prenatal development. Harvey Lect 55:201PubMedGoogle Scholar
  35. 35.
    Keller WD, Wiest WG, Askin FB, Johnson LW, Strickler RC (1979) Pseudocorpus Luteum Insufficiency: A Local Defect of Progesterone Action on Endometrial Stroma. J Clin Endocrinol Metab 48:127PubMedCrossRefGoogle Scholar
  36. 36.
    Kobrinsky NL, Israels ED, Cheang MS, Doyle JJ, Winter JSD, Walker RD, Bishop AJ (1985) Absent factor VIII response to synthetic vasopressin analogue (DDAVP) in nephrogenic diabetes insipidus. Lancet 1:1293PubMedCrossRefGoogle Scholar
  37. 37.
    Lamberts SWJ, Poldermans D, Zweens M, de Jong FH (1986) Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects. J Clin Endocrinol Metab 63:1328PubMedCrossRefGoogle Scholar
  38. 38.
    Laron Z, Pertzelan A, Karp M, Kowaldo-Silbergeld A, Daughaday WH (1971) Administration of growth hormone to patients with familial dwarfism with high plasma immunoreactive growth hormone: measurement of sulfation factor, metabolic and linear growth responses. J Clin Endocrinol Metab 33:332PubMedCrossRefGoogle Scholar
  39. 39.
    Laron Z, Pertzelan A, Mannheimer S (1966) Genetic pituitary dwarfism with high serum concentration of growth hormone: a new inborn error of metabolism? Isr J Med Sci 2:152PubMedGoogle Scholar
  40. 40.
    McLeod JF, Haddad Jr JG (1987) Syndromes of Vitamin D Resistance. In: Cohen MP, Foà PP (eds) Hormone resistance and other endocrine paradoxes. Springer, Berlin Heidelberg New York, p 120Google Scholar
  41. 41.
    Levine MA, Downs RW Jr, Singer MJ, Marx SJ, Spiegel AM (1980) Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyreoidism. Bio-chem Biophys Res Commun 94:1319CrossRefGoogle Scholar
  42. 42.
    Liewendahl K, Rosengard S, Lamberg BA (1978) Nuclear binding of triiodothyronine and thyroxine in lymphocytes from subjects with hyperthyreoidism, hypothyreoidism and resistance to thyroid hormone. Clin Chim Acta 83:41PubMedCrossRefGoogle Scholar
  43. 43.
    Mariotti S, Anelli S, Bechi R, Martino E, Mammoli C, Aghini-Lombardi F, Pinchera A (1987) Familial hyperthyreoidism due to nonneoplastic inappropriate TSH secretion associated with sellar abnormalities. Ann Déndocrinol 48:93Google Scholar
  44. 44.
    Merimee EJ, Zapf J, Hewlett B, Cavalli-Sforza LL (1987) Insulin-like growth factor in pygmies. N Engl J Med 316:906PubMedCrossRefGoogle Scholar
  45. 45.
    Moore RJ, Griffin JE, Wilson JD (1975) Diminished 5-alphareductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2. J Biol Chem 250:7168PubMedGoogle Scholar
  46. 46.
    Morris JM (1953) The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65:1192PubMedGoogle Scholar
  47. 47.
    Niaudet P, Dechaux M, Leroy D, Broyer M (1985) Front Horm Res 13:224Google Scholar
  48. 48.
    Nowakowski H, Lenz W (1961) Genetic aspects in male hypogonadism. Rec Prog Horm Res 17:53PubMedGoogle Scholar
  49. 49.
    Ohno S (1978) The role of H-Y antigen in primary sex determination. JAMA 239:217PubMedCrossRefGoogle Scholar
  50. 50.
    Okusa MD, Bia MJ (1987) Barrier’s syndrome. In Cohen MP, Foà PP (eds) Hormone resistance and other endocrine paradoxes. Springer, Berlin Heidelberg New York, p 231Google Scholar
  51. 51.
    Prader A, Illig R, Heierli E (1961) Eine besondere Form der primären Vitamin-D-resistenten Rachitis mit Hypokalz-ämie und autosomal-dominantem Erbgang: Die hereditäre Pseudo-Mangelra-chitis. Helv Paediatr Acta 16:452Google Scholar
  52. 52.
    Radeke HH, Auf mkolk B, Juppner H, Krohn HP, Keck E, Hesch RD (1986) Multiple pre- and postreceptor defects in pseudohypoparathyreoidism (a multi-center study with twenty four patients). J Clin Endocrinol Metab 62:393PubMedCrossRefGoogle Scholar
  53. 53.
    Refetoff S (1982) Syndromes of thyroid hormone resistance. Am J Physiol 243:E88Google Scholar
  54. 54.
    Reifenstein EC Jr (1947) Hereditary familial hypogonadism. Proc Am Fed Clin Res 3:86PubMedGoogle Scholar
  55. 55.
    Rösier A (1984) The natural history of salt-wasting disorders of adrenal and renal origin. J Clin Endocrinol Metab 59:689CrossRefGoogle Scholar
  56. 56.
    Rosewater S, Gwinup G, Hamwi GJ, et al. (1965) Familial gynecomastia. Ann Intern Med 63:377PubMedCrossRefGoogle Scholar
  57. 57.
    Schambelan M, Sebastian A (1987) States of aldosterone deficiency or pseu-dodeficiency. In: Cohen MP, Foà PP (eds) Hormone resistance and other endocrine paradoxes. Springer, Berlin Heidelberg New York, p 204CrossRefGoogle Scholar
  58. 58.
    Schweikert HU, Neumann F (1986) Hormonelle Grundlagen der normalen und pathologischen somatischen Sexualentwicklung. Klin Wochenschr 64:49PubMedCrossRefGoogle Scholar
  59. 59.
    Shepard TH, Landing BH, Mason DC (1959) Familial Addison’s disease: case report of two sisters with corticoid deficiency unassociated with hypoaldosteronism. J Dis Child 97:154CrossRefGoogle Scholar
  60. 60.
    Smith EM, Brosnan P, Meyer WJ, Blalock JE (1987) An ACTH receptor on human mononuclear leukocytes: Relation to adrenal ACTH-receptor activity. N Engl J Med 317:1266PubMedCrossRefGoogle Scholar
  61. 61.
    Stanbury JB, Rocmans P, Buhler UK et al. (1968) Congenital hypothyreoidism with impaired thyroid response to thyrotropin. N Engl J Med 279:1132PubMedCrossRefGoogle Scholar
  62. 62.
    Turi S, Merth I, Sztriha L (1981) Indomethacin treatment of children suffering from nephrogenic diabetes insipidus or secondary tubulopathy associated severe polyuria. Int J Ped Nephrol 2:263Google Scholar
  63. 63.
    Valenta LJ, Sigel MB, Lesniak MA, Elias AN, Lewis UJ, Friesen HG, Kersh-nar AK (1985) Pituitary dwarfism in a patient with circulating abnormal growth hormone polymers. N Engl J Med 312:214PubMedCrossRefGoogle Scholar
  64. 64.
    Verhoeven GFM, Wilson JD (1979) The syndromes of primary hormone Resistance. Metabolism 28:253PubMedCrossRefGoogle Scholar
  65. 65.
    Wehling M, Kuhnle U, Witzgall H, Weber PC, Armanini D (1988) Lack of effect of aldosterone on intracellular sodium and potassium in mononuclear leukocytes from patients with pseudohy-poaldosteronism. Clin Endocrinol 28:67CrossRefGoogle Scholar
  66. 66.
    von Werder K (1975) Wachstumshormon und Prolaktinsekretion des Menschen. Urban und Schwarzenberg, MünchenGoogle Scholar
  67. 67.
    von Werder K, Scriba PC (1987) Hypothalamus und Hypophyse. In: Siegenthaler W (Hrsg) Klinische Pathophysiologic Thieme, Stuttgart, S 288Google Scholar
  68. 68.
    Wilkins L (1957) Abnormal sex differentiation: hermaphroditism and gonadal dysgenesis. In: Thomas CC (ed) The diagnosis and treatment of endocrine disorders in childhood and adolescence. Springfield Ill.:258Google Scholar
  69. 69.
    Wilson JD (1975) Metabolism of testicular androgens. In: Greep RO, Astwood EB (eds) Handbook of physiology, Washington DC. Am Physiol Soc 5:473Google Scholar
  70. 70.
    Zimmerman D, Green DC (1975) Nephrogenic diabetes insipidus — Type II: Defect distal to the adenylate cyclase step. Pediatr Res 9:381Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1988

Authors and Affiliations

  • O.-.A Müller
    • 1
  • K. von Werder
    • 1
  1. 1.Medizinische Klinik InnenstadtUniversität MünchenMünchen 2Deutschland

Personalised recommendations