Table 9.

Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
NR5A1
SOX3 None
SOX9 CNVs affecting SOX9 expression are in a gene desert & may not be identified by automated algorithms. 2
SRY
  • Only the presence of a copy of SRY in a 46,XX genome, not single-nucleotide variants in SRY, is relevant to 46,XX testicular DSD etiology.
  • SRY may be present in mosaic form in blood, & cases have been reported where SRY is found in the gonad only, not in blood [Inoue et al 1998, Queipo et al 2002].
WT1 Only variants affecting the ZF4 domain have been assoc w/nonsydromic 46,XX testicular DSD.

CNV = copy number variant; DSD = disorders/differences of sex development

1.

Genes are listed in alphabetic order.

2.

At least one case of a 46,XX individual who was mosaic for SOX9-associated duplications has been reported [Huang et al 1999].

From: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.