|
46, XX Disorders of Sex Development
|
0.020 |
GeneticVariation
|
group |
BEFREE |
We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected.
|
29393271 |
2017 |
|
46, XX Disorders of Sex Development
|
0.020 |
GeneticVariation
|
group |
BEFREE |
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
|
30350900 |
2019 |
|
46, XX Testicular Disorders of Sex Development
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
|
30739115 |
2019 |
|
46, XX Testicular Disorders of Sex Development
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
|
27490115 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We screened for NR5A1 mutations in a cohort of 34 patients with 46,XY DSD using PCR-based sequencing.
|
23095176 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
|
31338750 |
2019 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to severe (e.g., complete gonadal dysgenesis).
|
30067310 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Based on this finding, we screened patients with unexplained 46,XY DSD (n = 11), proximal hypospadias (n = 21) and 46,XX POF (n = 36) for possible NR5A1 copy-number variations (CNVs) via multiplex ligation-dependent probe amplification (MLPA), but did not identify any additional CNVs involving NR5A1.
|
23918653 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The study included mutational analysis of NR5A1 in 30 individuals with 46,XY disorders of sex development, followed by functional studies of SF1 activity.
|
17200175 |
2007 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In order to ascertain whether or not the histological features were the characteristics of NR5A1 mutations, we screened the testicular histology of 242 patients with 46,XY DSD and then subsequently assessed NR5A1 mutations.
|
23969951 |
2013 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
SF-1/NR5A1 mutations are frequently found in 46,XY DSD individuals (9%) and manifest with a broad phenotype.
|
22549935 |
2012 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 27 patients with 46,XY disorders of sex development (DSD) from the German network of DSD.
|
17694559 |
2008 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations of NR5A1 are a relatively common cause of 46,XY DSD.
|
26139438 |
2015 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
CTD_human |
|
|
|
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To test the hypothesis that mutations in NR5A1 cause disorders of ovarian development and function, we sequenced NR5A1 in four families with histories of both 46,XY disorders of sex development and 46,XX primary ovarian insufficiency and in 25 subjects with sporadic ovarian insufficiency.
|
19246354 |
2009 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Literature search confirmed twelve other cases of this scenario, namely, severe under-virilization in utero followed by spontaneous virilization around puberty in NR5A1-related 46,XY DSD.
|
30224582 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations of NR5A1 have been reported in 46,XY disorders of sex development and in 46,XX primary ovarian insufficiency.
|
20887963 |
2010 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.
|
21163476 |
2011 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Our results suggest that the broad phenotype in these heterozygous NR5A1 46,XY DSD subjects may well be explained by an oligogenic mode of inheritance, in which multiple hits, individually non-deleterious, may contribute to a DSD phenotype unique to each heterozygous SF-1/NR5A1 individual.
|
29891883 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
NR5A1 gene mutations are a relatively frequent cause of 46,XY DSD in humans.
|
24434652 |
2014 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
More recently, heterozygous NR5A1 mutations have been identified in a substantial proportion of patients with 46,XY disorders of sex development (46,XY DSD) without adrenal insufficiency.
|
20595937 |
2010 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia.
|
28459839 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency.
|
27135758 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
|
26681172 |
2015 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A total of four novel and three recurrent NR5A1 variants were identified in seven 46, XY DSD patients.
|
30103258 |
2018 |