True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
46,XX/SRY-negative true hermaphrodite.
|
20451191 |
2010 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin.
|
18056774 |
2008 |
True Hermaphroditism (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis for XX true hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear.
|
18085567 |
2008 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genetic heterogeneity has been proposed as a cause of dual gonadal development in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients.
|
15378545 |
2004 |
True Hermaphroditism (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several years ago, we presented a patient with true hermaphroditism and partial duplication of chromosome 22 and no evidence of SRY (Aleck et al.[1999: Am J Med Genet 85:2-4]).
|
14556248 |
2003 |
True Hermaphroditism (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
|
12793612 |
2003 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
We conclude that fluorescence in situ hybridization (FISH) analysis with SRY probes is highly recommended and allows accurate diagnosis and optimal management in cases of 46,XX hermaphroditism and ambiguous genitalia.
|
12503111 |
2003 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
We ascertained the presence of the SRY gene and SRY protein in the ovotestis.
|
11912443 |
2002 |
True Hermaphroditism (disorder)
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
We ascertained the presence of the SRY gene and SRY protein in the ovotestis.
|
11912443 |
2002 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites.
|
12215841 |
2002 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
SRY protein is detected in the nuclei of Sertoli cells of the testis and in the nuclei of granulosa cells in the ovotestis in these patients and in the nuclei of germ cells of both tissue types.
|
11748609 |
2001 |
True Hermaphroditism (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism.
|
11480910 |
2001 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hidden Y mosaicism in gonadal tissues was also ruled out in two cases, suggesting that cryptic SRY mosaicism in gonadal tissues is not the usual mechanism responsible for testicular development in patients with 46,XX true hermaphroditism.
|
11257728 |
2001 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
BEFREE |
SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.
|
10602113 |
2000 |
True Hermaphroditism (disorder)
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We have also analyzed SRY protein expression in the ovotestis from 46,XX true hermaphrodites and 46,XX/46,XY mosaicism, demonstrating SRY protein expression in both testicular and ovarian portions in these patients.
|
11173859 |
2000 |
True Hermaphroditism (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
True hermaphroditism with partial duplication of chromosome 22 and without SRY.
|
10377005 |
1999 |
True Hermaphroditism (disorder)
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Sry gene was observed in all cases of MPH and each case of MGD and sex reversal in contrast to bare expression in all cases of FPH and most of TH.
|
9250915 |
1997 |
True Hermaphroditism (disorder)
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome.
|
7702097 |
1995 |
True Hermaphroditism (disorder)
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism.
|
1740318 |
1992 |
True Hermaphroditism (disorder)
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|