Gonadal Dysgenesis, 46,XX
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
|
22907560 |
2012 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In rare cases, sequence variants of the NR5A1/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency.
|
31831369 |
2019 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency.
|
22100173 |
2012 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
|
15579739 |
2004 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a phenotypically and genotypically normal girl, with signs and symptoms of adrenal insufficiency and no apparent defect in ovarian maturation, bearing a heterozygote G-->T transversion in exon 4 of the NR5A1 gene that leads to the missense R255L in the SF-1 protein.
|
11038323 |
2000 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Not long ago, a mutation (G35E) in the human SF-1 gene was identified as the cause of sex reversal and adrenal failure in a phenotypically female but genotypically XY individual.
|
12907682 |
2003 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype.
|
29265478 |
2018 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.
|
15070943 |
2004 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
NR5A1 mutations have been identified in patients with various forms of 46,XY disorders of sex development (DSD), including complete gonadal dysgenesis with or without adrenal insufficiency, mild testicular dysgenesis with ambiguous external genitalia or female external genitalia with clitoromegaly, and penoscrotal hypospadias.
|
21654157 |
2011 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure.
|
20453312 |
2010 |
Adrenal gland hypofunction
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Consequently, initial work on the potential effects of SF-1 disruption in humans focused on individuals with primary adrenal failure, a 46,XY karyotype, complete gonadal dysgenesis, and Müllerian structures.
|
23044873 |
2012 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
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 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
|
26139438 |
2015 |
Adrenal gland hypofunction
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency.
|
19439508 |
2009 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, we add a novel mutation of NR5A1 in 46, XY DSD patient without adrenal failure.
|
19318730 |
2009 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This is the first study searching for NR5A1 mutations in oriental patients from the Middle East and Arab region with XY DSD and no adrenal insufficiency, revealing a frequency similar to that in European patients (6.5-15%).
|
24591553 |
2014 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.
|
17656604 |
2007 |
Adrenal gland hypofunction
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In humans, mutations in steroidogenic factor-1 (SF-1), one of the critical factors involved in testis development, have been reported to cause gonadal dysgenesis with or without adrenal failure in 46,XY individuals.
|
17488792 |
2007 |
Adrenal gland hypofunction
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.
|
29151085 |
2018 |
Male infertility
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility.
|
27169744 |
2016 |
Male infertility
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
To test the hypothesis that mutations in NR5A1 cause male infertility, we sequenced NR5A1 in 315 men with idiopathic spermatogenic failure.
|
20887963 |
2010 |
Male infertility
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
Loss-of-function changes in NR5A1 in 46,XY individuals are associated with a spectrum of phenotypes in humans ranging from a lack of testis formation to male infertility.
|
27378692 |
2016 |
Male infertility
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, findings of the current and previous studies suggest that mutations in the NR5A1 gene are not common in azoospermia, and male infertility and inclusion of NR5A1 mutation screening in the diagnostic workup of male infertility may seem unnecessary.
|
24750329 |
2015 |
Male infertility
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
NR5A1 mutations are not associated with male infertility in Indian men.
|
29265478 |
2018 |