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Androgeninsensitivität

Androgen insensitivity

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.

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Correspondence to P. Wieacker.

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

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Schlüsselwörter

  • Androgenrezeptor
  • Androgeninsensitivität
  • Männliche Infertilität
  • Spinobulbäre Muskelatrophie
  • Transaktivierung

Keywords

  • Androgen receptor
  • Androgen insensitivity
  • Male infertility
  • Spinobulbar muscular atrophy
  • Transactivation