|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In the present study, we describe the impact of five NR5A1 variants (three novel: p.Arg39Cys, p.Ser32Asn, and p.Lys396Argfs*34; and two previously described: p.Cys65Tyr and p.Cys247*) on protein function, identified in seven patients with 46,XY DSD.
|
29027717 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described.
|
20861607 |
2011 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The first human NR5A1 mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency.
|
29151085 |
2018 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
More recently, however, it has emerged that heterozygous loss of function mutations in NR5A1 can be found relatively frequently in children and adults with 46,XY disorders of sex development (DSD) but with apparently normal adrenal function.
|
18987494 |
2008 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
For the clinical utility of NR5A1 gene mutations, more comprehensive studies with large 46,XY DSD patient series in different populations are suggested.
|
26260161 |
2016 |
|
46, XY Disorders of Sex Development
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In conclusion, we add a novel mutation of NR5A1 in 46, XY DSD patient without adrenal failure.
|
19318730 |
2009 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
CTD_human |
|
|
|
|
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 |
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 |
Biomarker
|
group |
BEFREE |
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
|
24591553 |
2014 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Our data reinforce that NR5A1 analysis must also be performed in 46,XY DSD patients with normal testosterone levels without AR mutations.
|
24405868 |
2014 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are reported in 46,XY disorders of sex development (DSD).
|
19439508 |
2009 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD.
|
27490115 |
2017 |
|
46, XY Disorders of Sex Development
|
0.400 |
Biomarker
|
group |
BEFREE |
We report a novel microdeletion encompassing NR5A1 in a patient with 46,XY DSD and developmental delay.
|
24056159 |
2013 |