Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
NR5A1 mutations are associated with 46,XX primary ovarian insufficiency and 46,XY disorders of sex development.
|
19246354 |
2009 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A group of 100 46,XY DSD and two POI was studied for NR5A1 mutations and their impact.
|
22549935 |
2012 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, NR5A1 mutations have now been found in women with familial and sporadic 46,XX primary ovarian insufficiency without adrenal failure.
|
20595937 |
2010 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the NR5A1 gene in 26 XX girls with POI.
|
23153500 |
2013 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, studies in the past few years have shown that NR5A1 mutations can also contribute to primary ovarian insufficiency and impaired spermatogenesis.
|
29265478 |
2018 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels.
|
28033660 |
2016 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR5A1 were first described in patients with primary adrenal insufficiency and 46,XY disorders of sexual development and later also in men with hypospadias, bilateral anorchia and micropenis and women with primary ovarian insufficiency.
|
23299922 |
2013 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR5A1 in 46,XX women are associated with primary ovarian insufficiency, which includes a lack of ovary formation, primary and secondary amenorrhoea as well as early menopause.
|
27378692 |
2016 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in genes involved in the control of steroidogenesis, such as NR5A1 (SF-1, Steroidogenic Factor 1), CYP17, CYP19A1 (aromatase), StAR (Steroidogenic Acute Regulatory), and the forkhead transcription factor FOXL2 have been associated with different forms of POI.
|
21505076 |
2011 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of NR5A1 have been reported in 46,XY disorders of sex development and in 46,XX primary ovarian insufficiency.
|
20887963 |
2010 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One hundred eighty patients diagnosed with idiopathic POI were screened for NR5A1 mutations and functional analysis was performed for the identified variants.
|
23543655 |
2013 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, a high frequency of NR5A1 gene mutations was reported in a small group of women with POI.
|
22100173 |
2012 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of POI was made on pubertal delay or primary amenorrhea in these five patients, whilst the others presented with clitoral hypertrophy at birth or short stature and pubertal delay in two cases with NR5A1 mutation or with short stature and learning difficulties in one case with mitochondrial disease.
|
25425520 |
2015 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
|
24405868 |
2014 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study describes the cases of two families in which the association of DGD and POI enabled a diagnosis of NR5A1 deleterious variations.
|
31831369 |
2019 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
CTD_human |
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 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Variants in SF-1/NR5A1 more commonly cause a spectrum of reproductive phenotypes ranging from 46,XY DSD (partial testicular dysgenesis or reduced androgen production) and hypospadias to male factor infertility or primary ovarian insufficiency.
|
26303087 |
2015 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD.
|
27490115 |
2017 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF.
|
24073220 |
2013 |