Abnormal gene expression profiles in human ovaries from polycystic ovary syndrome patients

Mol Endocrinol. 2004 Dec;18(12):3050-63. doi: 10.1210/me.2004-0074. Epub 2004 Aug 12.


Polycystic ovary syndrome (PCOS) represents the most common cause of anovulatory infertility and affects 5-10% of women of reproductive age. The etiology of PCOS is still unknown. The current study is the first to describe consistent differences in gene expression profiles in human ovaries comparing PCOS patients vs. healthy normoovulatory individuals. The microarray analysis of PCOS vs. normal ovaries identifies dysregulated expression of genes encoding components of several biological pathways or systems such as Wnt signaling, extracellular matrix components, and immunological factors. Resulting data may provide novel clues for ovarian dysfunction in PCOS. Intriguingly, the gene expression profiles of ovaries from (long-term) androgen-treated female-to-male transsexuals (TSX) show considerable overlap with PCOS. This observation provides supportive evidence that androgens play a key role in the pathogenesis of PCOS. Presented data may contribute to a better understanding of dysregulated pathways in PCOS, which might ultimately reveal novel leads for therapeutic intervention.

MeSH terms

  • Adult
  • Apoptosis / genetics
  • Case-Control Studies
  • Chromosome Mapping
  • Extracellular Matrix Proteins / genetics
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation*
  • Heat-Shock Proteins / genetics
  • Histone Deacetylases / genetics
  • Humans
  • Immunologic Factors / genetics
  • Intercellular Signaling Peptides and Proteins / genetics
  • Oligonucleotide Array Sequence Analysis
  • Ovary / metabolism*
  • PPAR gamma / genetics
  • Polycystic Ovary Syndrome / genetics*
  • Polycystic Ovary Syndrome / metabolism
  • Wnt Proteins


  • Extracellular Matrix Proteins
  • Heat-Shock Proteins
  • Immunologic Factors
  • Intercellular Signaling Peptides and Proteins
  • PPAR gamma
  • Wnt Proteins
  • Histone Deacetylases
  • histone deacetylase 3