Adrenal cortical hypofunction
|
0.400 |
Biomarker
|
disease |
BEFREE |
These SF-1 knockout mice lacked adrenal glands and gonads, causing adrenocortical insufficiency and sex reversal of their internal and external genitalia.
|
11165004 |
2001 |
Adrenal cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency.
|
28032338 |
2017 |
Adrenal cortical hypofunction
|
0.400 |
Biomarker
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency.
|
22100173 |
2012 |
Adrenal cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Several mutations in NR5A1 have been reported to cause gonadal dysgenesis with adrenal insufficiency in individuals with 46,XY karyotype.
|
29265478 |
2018 |
Adrenal cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Initially, mutations of SF-1/Ad4BP gene (NR5A1) in humans were identified in two 46, XY female patients with adrenal insufficiency and gonadal dysgenesis.
|
19318730 |
2009 |
Adrenal cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have identified three human subjects with mutations in SF-1 causing adrenocortical insufficiency with varying degrees of gonadal dysfunction.
|
15070943 |
2004 |
Adrenal cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Adrenal cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
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 cortical hypofunction
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
|
15579739 |
2004 |