Der Internist

, Volume 46, Issue 6, pp 690–694 | Cite as

Alopecia totalis, Hypotonie und erektile Dysfunktion bei einem 34-jährigen Mann

Schwierige Klärung einer gemeinsamen Ursache
Kasuistiken

Zusammenfassung

Das Auftreten mehrerer Autoimmunendokrinopathien in Verbindung mit nichtendokrinen Autoimmunerkrankungen wird als polyglanduläres Autoimmunsyndrom (PAS) bezeichnet. Bei einem 34-jährigen Mann mit Schwäche, Gewichtsverlust und erektiler Dysfunktion fanden sich ein Hypokortisolismus durch Autoimmunadrenalitis und ein Hypogonadismus durch Hypophysitis mit einer Störung der Gonadotropinsekretion. Als weitere Zeichen einer breiten Autoimmunendokrinopathie zeigten sich Autoantikörper gegen Schilddrüsenmikrosomen und gegen Inselzellen, jedoch ohne Nachweis eines Hormonmangels. In den nächsten 11 Jahren wurden insgesamt 3 Endokrinopathien (Nebennierenrindeninsuffizienz, hypogonadotroper Hypogonadismus infolge Hypophysitis, Diabetes mellitus Typ 1) klinisch manifest. Parallel dazu manifestierten sich mehrere nichtendokrine Autoimmunerkrankungen: Alopecia totalis, Vitiligo, Retrobulbärneuritis und Keratokonjunktivitis.

Schlüsselwörter

Diabetes mellitus Typ 1 Autoimmunthyreoiditis Morbus Addison Vitiligo Polyglanduläres Autoimmunsndrom 

Alopecia totalis, hypotension and erectile dysfunction in a 34 year old patient

Abstract

The occurence of both autoimmune endocrinopathies and endocrinopathies caused by other reasons is called polyglandular autoimmune syndrome (PAS-syndrome). In a 34 years old man with weakness, weight loss and erectile dysfunction we found low cortisol caused by an autoimmune adrenalitis and low testosteron caused by a hypophysitis with impaired gonadotropin secretion. Thyroid autoantibodies and islet cell autoantibodies without any hormone deficiencies were further signs of a broad endocrine autoimmune syndrome. In the following 11 years the patient developed three autoimmune disorders: paradrenal glandular insufficiency, hypogonadism caused by hypophysitis, Diabetes mellitus type 1. In the same time several non endocrine autoimmune diseases became manifest: alopecia totalis, vitiligo, retrobulbar neuritis and keratoconjunctivitis.

Keywords

Diabetes mellitus type 1 Autoimmune thyroiditis Morbus Addison Vitiligo Polyglandular autoimmune syndrome 

Literatur

  1. 1.
    Neufeld M, Maclaren NK, Blizzard RM (1981) Two types of autoimmune Addison’s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore) 60: 355–362Google Scholar
  2. 2.
    Ahonen P, Myllarniemi S, Sipila I, Perheentupa J (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322: 1829–1836PubMedGoogle Scholar
  3. 3.
    Leshin M (1985) Polyglandular autoimmune syndromes. Am J Med Sci 290: 77–88Google Scholar
  4. 4.
    Pholsena M, Young J, Couzinet B, Schaison G (1994) Primary adrenal and thyroid insufficiencies associated with hypopituitarism: a diagnostic challenge. Clin Endocrinol (Oxf) 40: 693–695Google Scholar
  5. 5.
    Bunnag P, Rajatanavin R (1994) Polyglandular autoimmune (PGA) syndromes: report of three cases and review of the literature. J Med Assoc Thai 77: 327–333Google Scholar
  6. 6.
    Papadopoulos K, Hallengren B (1990) Polyglandular autoimmune syndrome type II in patients with idiopathic Addison’s disease. Acta Endocrinol (Copenh) 122: 472–478Google Scholar
  7. 7.
    Kahaly G, Förster G, Otto E, Hansen C, Schulz G (1997) Diabetes mellitus Typ I als ein Teil des polyglandulären Autoimmunsyndroms. Diabetes Stoffwechsel 6: 19–27Google Scholar
  8. 8.
    Papadopoulos KI, Hornblad Y, Hallengren B (1994) The occurrence of polyglandular autoimmune syndrome type III associated with coeliac disease in patients with sarcoidosis. J Intern Med 236: 661–663Google Scholar
  9. 9.
    De Block CE, De Leeuw IH, Vertommen JJ et al. (2001) Beta-cell, thyroid, gastric, adrenal and coeliac autoimmunity and HLA-DQ types in type 1 diabetes. Clin Exp Immunol 126: 236–241Google Scholar
  10. 10.
    Zelissen PM, Bast EJ, Croughs RJ (1995) Associated autoimmunity in Addison’s disease. J Autoimmun 8: 121–130Google Scholar
  11. 11.
    De Block CE, De Leeuw IH, Bogers JJ et al. (2003) Autoimmune gastropathy in type 1 diabetic patients with parietal cell antibodies: histological and clinical findings. Diabetes Care 26: 82–88Google Scholar
  12. 12.
    Dittmar M, Kahaly GJ (2003) Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. J Clin Endocrinol Metab 88: 2983–2992CrossRefPubMedGoogle Scholar
  13. 13.
    Hansen D, Bennedbaek FN, Hoier-Madsen M, Hegedus L, Jacobsen BB (2003) A prospective study of thyroid function, morphology and autoimmunity in young patients with type 1 diabetes. Eur J Endocrinol 148: 245–251Google Scholar
  14. 14.
    Pfannenstiel P, Hotze LA, Schaller B (1999) Schilddrüsenkrankheiten: Diagnose und Therapie. In: Berlin H (Hrsg) Berliner Medizinische Verlagsanstalt GmbHGoogle Scholar
  15. 15.
    Weyermann D, Spinas G, Roth S, Guglielmetti M, Viollier E, Staub JJ (1994) Combined endocrine autoimmune syndrome — incidence, forms of manifestation and clinical significance. Schweiz Med Wochenschr 124: 1971–1975Google Scholar
  16. 16.
    Maclaren N, Chen QY, Kukreja A, Marker J, Zhang CH, Sun ZS (2001) Autoimmune hypogonadism as part of an autoimmune polyglandular syndrome. J Soc Gynecol Investig 8: S52–54Google Scholar
  17. 17.
    Schmitt K, Tulzer G, Tulzer W (1992) Polyglandular type I autoimmune syndrome. Wien Klin Wochenschr 104: 325–327Google Scholar
  18. 18.
    Barkan AL, Kelch RP, Marshall JC (1985) Isolated gonadotrope failure in the polyglandular autoimmune syndrome. N Engl J Med 312: 1535–1540Google Scholar
  19. 19.
    Ten S, New M, Maclaren N (2001) Clinical review 130: Addison’s disease 2001. J Clin Endocrinol Metab 86: 2909–2922Google Scholar
  20. 20.
    Chen QY, Nadell D, Zhang XY et al. (2000) The human leukocyte antigen HLA DRB3*020/DQA1*0501 haplotype is associated with Graves‘ disease in African Americans. J Clin Endocrinol Metab 85: 1545–1549Google Scholar
  21. 21.
    Vogel A, Strassburg CP, Obermayer-Straub P, Brabant G, Manns MP (2002) The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components. J Mol Med 80: 201–211CrossRefPubMedGoogle Scholar
  22. 22.
    (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Nat Genet 17: 399–403Google Scholar
  23. 23.
    Nagamine K, Peterson P, Scott HS et al. (1997) Positional cloning of the APECED gene. Nat Genet 17: 393–398Google Scholar
  24. 24.
    Iannello S, Campanile E, Cipolli D et al. (1997) A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance. Minerva Endocrinol 22: 51–59Google Scholar
  25. 25.
    Heino M, Peterson P, Sillanpaa N (2000) RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. Eur J Immunol 30: 1884–1893Google Scholar
  26. 26.
    Halonen M, Kangas H, Ruppell T et al. (2004) APECED-causing mutations in AIRE reveal the functional domains of the protein. Hum Mutat 23: 245–257Google Scholar
  27. 27.
    Meyer G, Badenhoop K (2002) Autoimmune regulator (AIRE) gene on chromosome 21: implications for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) any more common manifestations of endocrine autoimmunity. J Endocrinol Invest 25: 804–811Google Scholar
  28. 28.
    Aaltonen J, Bjorses P (1999) Cloning of the APECED gene provides new insight into human autoimmunity. Ann Med 31: 111–116Google Scholar

Copyright information

© Springer Medizin Verlag 2005

Authors and Affiliations

  1. 1.Funktionsbereich Endokrinologie und Stoffwechselerkrankungen, Klinik für Innere Medizin IIIUniversitätsklinikum Jena
  2. 2.Klinik für Innere Medizin IIIFriedrich-Schiller-UniversitätJena

Personalised recommendations