|
Gonadal Dysgenesis, 46,XY
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we present 4 novel mutations of the NR5A1 gene associated with 46,XY GD together with in vitro data pointing towards a possible functional impairment of the mutant SF-1 proteins.
|
29190620 |
2017 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads.
|
27610946 |
2017 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Here, exome sequencing identified 2 pathogenic de novo NR5A1 mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys.
|
27169744 |
2016 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR5A1 have been initially associated with primary adrenal insufficiency and 46,XY gonadal dysgenesis and more recently with less severe phenotypes, including preliminary descriptions in severe forms of male factor infertility.
|
25989977 |
2015 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Excluding the cases of 46,XY gonadal dysgenesis the incidence of NR5A1 mutations was 5/66 (7.6%).
|
22028768 |
2011 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
Biomarker
|
disease |
CTD_human |
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.
|
15070943 |
2004 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
Biomarker
|
disease |
CTD_human |
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
|
11932325 |
2002 |
|
Gonadal Dysgenesis, 46,XY
|
0.350 |
Biomarker
|
disease |
CTD_human |
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.
|
10369247 |
1999 |