Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene?

K. M. Lower, R. Kumar, E. Woollatt, L. Villard, J. Gecz, G. R. Sutherland, D. F. Callen

Research output: Contribution to journalArticle

4 Citations (Scopus)


Background/Aims: Two half-brothers with similar malformed genitals, who both inherited a maternally derived t(X;5)(q13;p15) translocation, have a phenotype consistent with partial androgen sensitivity syndrome. The aim was to identify the gene disrupted by the X chromosome breakpoint. Methods: The breakpoint was localized using fluorescence in situ hybridization to metaphase spreads of the translocation. Results: The breakpoint on the X chromosome of the X;5 translocation was localized to a 30-kb region. This region does not contain any identified genes or transcripts. However, the breakpoint is approximately 134 kb from the 5′ end of the androgen receptor (AR) gene. Conclusions: Genetic defects of the AR gene are collectively called androgen insensitivity syndrome and include a range of phenotypes from normal males, often with associated sterility, to XY females. The phenotype seen in the males with the t(X;5) is consistent with this syndrome. The analysis of the chromosomal abnormality suggests that this translocation may remove one or more upstream regulatory elements of the AR gene that are essential for its normal expression and its role in typical external masculinization.

Original languageEnglish
Pages (from-to)208-214
Number of pages7
JournalHormone Research
Issue number4
Publication statusPublished - 1 Jan 2004
Externally publishedYes


  • Androgen insensitivity syndrome
  • Androgen receptor
  • Chromosomal rearrangement
  • Malformed genitals
  • Translocation
  • X chromosome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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