Clinical and molecular aspects of androgen insensitivity

Olaf Hiort*

*Korrespondierende/r Autor/-in für diese Arbeit
26 Zitate (Scopus)

Abstract

Androgen insensitivity describes the inability of cells to respond adequately to androgens. The clinical aspects are well characterized and described in the androgen insensitivity syndrome, where underandrogenization occurs despite normal to high levels of androgens. In 46,XY individuals, this is associated with a variable phenotype ranging from completely female to ambiguous genitalia and infertility in males with gynecomastia. Androgen action is facilitated by a single androgen receptor (AR), whose gene is localized on the X chromosome. However, the identification of mutations in the AR gene in patients with androgen insensitivity is variable, and chances are lower the more subtle the phenotype is. Therefore, other currently unknown mechanisms must be hypothesized to lead to the respective phenotype. The AR is a nuclear transcription factor, acting in concert with an array of only partly known cofactors serving as modulators of target gene transcription. The induced transcription pattern is highly tissue and cell specific, and in some tissues may lead to lasting changes of cell programming. Only one regulated gene APOD has currently been identified to serve as a clinical tool for the diagnosis of androgen insensitivity.

OriginalspracheEnglisch
TitelHormone Resistance and Hypersensitivity: From Genetics to Clinical Management
Redakteure/-innenMohamad Maghnie, Renata Lorini, Sandro Loche, Marco Cappa, Lucia Ghizzoni
Seitenumfang8
Erscheinungsdatum2013
Seiten33-40
ISBN (Print)9783318022674
DOIs
PublikationsstatusVeröffentlicht - 2013

Strategische Forschungsbereiche und Zentren

  • Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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