Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

Hum Reprod. 2010 Oct;25(10):2637-46. doi: 10.1093/humrep/deq167. Epub 2010 Aug 4.


Background: XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations.

Methods: The aim of this study was to detect microdeletions and duplications by using high-resolution Agilent oligonucleotide arrays in a cohort of 87 patients with syndromic or non-syndromic 46,XY-GD.

Results: In 26 patients, we identified gains or losses in regions including genes involved in XY-GD (DMRT1, SOX9, DAX1) or in regions, which have not been described as polymorphic copy number variants (CNVs).

Conclusions: This study shows that array comparative genomic hybridization (CGH) analysis is a useful tool for the molecular diagnosis of XY-GD as well as for the identification of potential candidate genes involved in male sexual development.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Cohort Studies
  • DAX-1 Orphan Nuclear Receptor / genetics
  • Female
  • Genes, Duplicate
  • Genetic Loci*
  • Gonadal Dysgenesis, 46,XY / diagnosis*
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Humans
  • Male
  • Middle Aged
  • Oligonucleotide Array Sequence Analysis / methods*
  • SOX9 Transcription Factor / genetics
  • Sequence Deletion
  • Transcription Factors / genetics
  • Young Adult


  • DAX-1 Orphan Nuclear Receptor
  • DMRT1 protein
  • NR0B1 protein, human
  • SOX9 Transcription Factor
  • SOX9 protein, human
  • Transcription Factors