Table 1.

Summary of Molecular Genetic Testing Used in 46,XY DSD and 46,XY Complete Gonadal Dysgenesis

GeneProportion of 46,XY DSD and 46,XY Complete Gonadal Dysgenesis Attributed to Mutations in This GeneTest MethodMutations Detected
46,XY DSD46,XY CGD
SRY1% 115% 2FISH or deletion/duplication testing 2Size of deletion detected depends on method
Sequence analysisSequence variants
NR5A1 (SF1)13%0%Sequence analysisSequence variants
DHH~20% 3~50% 4Sequence analysisSequence variants
NR0B1 (DAX1)RareRareFISH Gene duplication 5
WNT4RareRareDeletion/duplication testing 2Gene duplication
1.

Courtesy of Ken McElreavey, Institut Pasteur, based on results of sequence analysis in 400 individuals with 46,XY DSD or 45,XY CGD

2.

Testing that identifies deletions/duplications not readily detectable by sequence analysis of genomic DNA; a variety of methods including quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), or targeted array GH (gene/segment-specific) may be used. A full array GH analysis that detects deletions/duplications across the genome may also include this gene/segment. (See Testing, Findings on routine and specialized cytogenetic studies.)

3.

Heterozygous mutations

4.

Homozygous or compound heterozygous mutations, but based on a small sample from the Mexican population, so may represent an overestimate of prevalence

5.

May also be detected by targeted array GH (gene/segment-specific) or full array GH analyses, which detects deletions/duplications across the genome may also include this gene/segment.

From: 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

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Pagon RA, Adam MP, Ardinger HH, et al., editors.
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