Skip to main content
SpringerLink
Log in

Androgeninsensitivität

Androgen insensitivity

  • Schwerpunkt
  • Published:
medizinische genetik

Zusammenfassung

Mutationen des Androgenrezeptorgens sind mit einem Spektrum von Störungen assoziiert, die von der kompletten Androgeninsensitivität mit weiblichem äußerem Genitale über die partielle Androgeninsensitivität mit intersexuellem Genitale bis zur minimalen Androgeninsensitivität mit männlicher Infertilität reichen. Das CAG-Repeat im 1. Exon ist für die Transaktivierung von Zielgenen bedeutsam und moduliert androgenabhängige Prozesse. Eine pathologische Expansion dieses Repeats verursacht die X-chromosomale spinobulbäre Muskelatrophie.

Abstract

Mutations of the androgen receptor gene cause a spectrum of androgen insensitivity phenotypes ranging from women with female external genitalia through patients with genital ambiguities to men with male genitalia but infertility. The CAG repeat in the first exon is important for transactivation of target genes of the androgen receptor and is thought to modulate androgen-dependent processes. Expansion of this repeat is the cause of X-linked spinobulbar muscular atrophy.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1
Abb. 2

Literatur

  1. Wieacker P, Griffin JE, Wienker T et al (1987) Linkage analysis with RFLPs in families with androgen resistance syndromes: evidence for close linkage between the androgen receptor locus and the segment DXS1. Hum Genet 76:248–252

    Article  PubMed  CAS  Google Scholar 

  2. Lubahn DB, Joseph DR, Sullivan PM et al (1988) Cloning of human androgen receptor complementary DNA and location to the X chromosome. Science 240:327–330

    Article  PubMed  CAS  Google Scholar 

  3. Chamberlain NL, Driver ED, Miesfeld RL (1994) The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res 22:3181–3188

    Article  PubMed  CAS  Google Scholar 

  4. Knoke I, Alléra A, Wieacker P (1999) Significance of the CAG repeat length of the androgen receptor gene (AR) for the transactivation function of an mutant M780I mutant AR. Hum Genet 104:257–261

    Article  PubMed  CAS  Google Scholar 

  5. Quigley CA, DeBellis A, Marschke KB et al (1995) Androgen receptor defects: historical, clinical and molecular perspectives. Endocr Rev 16:271–321

    PubMed  CAS  Google Scholar 

  6. Rutgers JL, Scully RE (1991) The androgen insensitivity syndrome (testicular feminization): a clinicopathological study of 43 cases. Int J Gynecol Pathol 10:126–144

    Article  PubMed  CAS  Google Scholar 

  7. Han TS, Goswami D, Trikudanathan S et al (2008) Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis. Eur J Endocrinol 159:179–185

    Article  PubMed  CAS  Google Scholar 

  8. Hughes IA, Houk C, Ahmed SF, Lee PA (2006) Consensus statement on management of intersex disorders. J Ped Urol 2:148–162

    Article  CAS  Google Scholar 

  9. Hurt WG, Bodurtha JN, McCall JB, Ali MM (1989) Seminoma in pubertal patient with androgen insensitivity syndrome. Am J Obstet Gynecol 161:530–531

    PubMed  CAS  Google Scholar 

  10. Allera A, Herbst MA, Griffin JE et al (1995) Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. J Clin Endocrinol Metab 80:2697–2699

    Article  PubMed  CAS  Google Scholar 

  11. Wooster R, Mangion J, Ecles R et al (1992) A germ-line mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome. Nat Genet 2:132–134

    Article  PubMed  CAS  Google Scholar 

  12. Lobaccaro JM, Lumbroso S, Belon C et al (1993) Androgen receptor gene mutation in male breast cancer. Hum Mol Genet 2:1799–1802

    Article  PubMed  CAS  Google Scholar 

  13. Knoke I, Jakubiczka S, Lehnert H, Wieacker P (1999) Mutation of the androgen receptor gene in a patient with severe oligozoospermia. Andrologia 31:199–201

    Article  PubMed  CAS  Google Scholar 

  14. Yong EL, Ng SC, Roy AC et al (1994) Pregnancy after hormonal correction of severe spermatogenic defect due to a mutation in androgen receptor gene. Lancet 344:826–827

    Article  PubMed  CAS  Google Scholar 

  15. LaSpada AR, Roling DB, Harding AE et al (1992) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nat Genet 2:301–304

    Article  CAS  Google Scholar 

  16. Wieacker P, Knoke I, Jakubiczka S (1998) Clinical and molecular aspects of androgen receptor defects. Exp Clin Endocrinol Diabetes 106:446–452

    Article  PubMed  CAS  Google Scholar 

  17. Gottlieb B, Beitel LK, Wu JH, Trifiro M (2004) The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat 23:527–533

    Article  PubMed  CAS  Google Scholar 

  18. Rodien P, Mebarki F, Mowszowicz I et al (1996) Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. J Clin Endocrinol Metab 81:2994–2998

    Article  PubMed  CAS  Google Scholar 

  19. Krause A, Sinnecker GH, Hiort O et al (2004) Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome. Exp Clin Endocrinol Diabetes 112:236–240

    Article  PubMed  CAS  Google Scholar 

  20. Tut TG, Ghadessy FJ, Trifiro MA et al (1997) Long polyglutamine tracts in the androgen receptor are associated with reduced transactivation, impaired sperm production and infertility. J Clin Endocrinol Metab 82:3777–3782

    Article  PubMed  CAS  Google Scholar 

  21. Pushek EE, Behzadian MA, McDonough PG (1994) The first analysis of exon 1 (the transactivation domain) of the androgen receptor gene in infertile men with oligospermia or azoospermia. Fertil Steril 62:1035–1038

    Google Scholar 

  22. Dadze S, Wieland C, Jakubiczka S et al (2000) The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoide sample of German origin. Mol Hum Reprod 6:207–214

    Article  PubMed  CAS  Google Scholar 

Download references

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

Author information

Authors and Affiliations

  1. Institut für Humangenetik, Universitätsklinikum Münster, Westfälische Wilhelms-Universität, Vesaliusweg 12–14, 48149, Münster, Deutschland

    P. Wieacker & S. Ledig

Authors
  1. P. Wieacker
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. Ledig
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to P. Wieacker.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wieacker, P., Ledig, S. Androgeninsensitivität. medgen 23, 249–253 (2011). https://doi.org/10.1007/s11825-011-0275-y

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11825-011-0275-y

Schlüsselwörter

Keywords

Search

Navigation