Gonadal Dysgenesis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SRY mutations are associated with the presence of XY gonadal dysgenesis symptoms.
|
23624391 |
2013 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in WT1 gene and a hemizygous mutation in SRY gene were detected in patients with gonadal dysgenesis.
|
27898418 |
2017 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
|
8105086 |
1993 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel SRY mutation has been described in a female with a gonadal dysgenesis associated with a 46, XY karyotype.
|
16675314 |
2007 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
|
26871559 |
2015 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.
|
8834258 |
1996 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.
|
19007850 |
2009 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.
|
20453312 |
2010 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
|
10852465 |
2000 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
If mutation of SRA1 or SRVX can reverse the sex of the XY fetus, this would explain why mutation within SRY is found only sporadically in women with XY gonadal dysgenesis.
|
8168809 |
1994 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndrome).
|
27576690 |
2016 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.
|
1487248 |
1992 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
|
20838034 |
2010 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
|
12483463 |
2002 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
On the assumption that the function of the testis is to produce hormones and spermatozoa, the hypothesis of a single Y-chromosomal testis-determining gene with a dominant effect is shown to run counter to the following observed facts: a lowering in testosterone levels and an increase in the incidence of undescended testes, in addition to sterility, in males with multiple X chromosomes; abnormalities of the testes in autosomal trisomies; phenotypic abnormalities of XX males apparently increasing with decreasing amounts of Y-chromosomal material; the occurrence of patients with gonadal dysgenesis and XY males with ambiguous genitalia in the same sibship; the occurrence of identical SRY mutations in patients with gonadal dysgenesis and fertile males in the same pedigree; and the development of XY female and hermaphrodite mice having the same genetic constitution.
|
1634224 |
1992 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Point mutations and deletions of SRY gene have been described in several cases of XY gonadal dysgenesis.
|
15211655 |
2004 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
|
17493621 |
2007 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Subsequent study revealed that she is a 46 XY phenotypic female adolescent with complete gonadal dysgenesis and with no alterations of the sex-determining region Y gene.
|
18580319 |
2008 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The architectural transcription factor SRY (sex-determining region of the Y chromosome) plays a key role in sex determination as indicated by the fact that mutations in SRY are responsible for XY gonadal dysgenesis in humans.
|
12764225 |
2003 |
Gonadal Dysgenesis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome).
|
1750489 |
1991 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Wilms' tumor 1 (WT1) and sex-determining region of the Y chromosome (SRY) genes are essential for development of the mammalian gonads and mutations in these genes are associated with gonadal dysgenesis in humans.
|
12970737 |
2003 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely.
|
20699606 |
2011 |
Gonadal Dysgenesis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Therefore, mutations in two major genes required for gonadal development, SRY and WT1, are not responsible for XY partial gonadal dysgenesis.
|
15665984 |
2005 |
Gonadal Dysgenesis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This observation of somatic and germinal mosaicism for a SRY mutation may explain the variable penetrance in some familial gonadal dysgenesis.
|
19531589 |
2009 |