Adrenal gland hypofunction
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children.
|
31219797 |
2019 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
NR0B1/DAX-1 mutations should be considered in male infants presenting with isolated hypoaldosteronism as first sign of adrenal insufficiency.
|
31164167 |
2019 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We recommend testing for DAX-1 mutations in all adults with primary AI and HH or impaired fertility where the etiology is unclear.
|
28741070 |
2017 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
These results expand the clinical manifestations of NR0B1 mutations to include central precocious puberty without adrenal insufficiency.
|
27648561 |
2016 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
According to our knowledge, this is the first case in the literature with NR0B1 mutation causing adrenal insufficiency with coexistent positive adrenal antibodies.
|
26448365 |
2015 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Nevertheless, genetic testing for NR0B1 mutations is indicated if there is a suspicion of an X-linked adrenal insufficiency in order to proceed with the appropriate therapy and genetic counseling.
|
26030781 |
2015 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
In conclusion, it is very important to identify mutation in the DAX1 gene for a boy with adrenal insufficiency of unknown etiology.
|
24197767 |
2014 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The baby did not have a mutation or deletion of DAX1, which would have caused adrenal insufficiency and hypogonadism.
|
23612644 |
2013 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation on NROB1 (DAX1) gene can cause different phenotypes of adrenal insufficiency in infancy.
|
24232823 |
2013 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1(c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia.
|
23367499 |
2013 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
X-linked adrenal hypoplasia congenita with hypogonadotropic hypogonadism and adrenal insufficiency is a rare disorder caused by mutations of DAX-1.
|
21632081 |
2011 |
Adrenal gland hypofunction
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We report a girl with a de novo deletion at Xp21.2 on the maternal chromosome, including DAX1, the GK gene and 3' end of the dystrophin gene, who presented with salt losing adrenal insufficiency and moderate developmental delay, but relatively mild features of muscular dystrophy.
|
18762570 |
2008 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We describe a 21-year-old 46,XY female manifesting primary amenorrhea, a small immature uterus, gonadal dysgenesis, and notably absent adrenal insufficiency with a submicroscopic (257 kb) deletion upstream of NR0B1.
|
17503084 |
2007 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
We report a new DAX1 gene mutation in a family with two affected members: one with neonatal adrenal insufficiency, and a sibling with adrenal hypoplasia and sudden death at 3 years old.
|
18038713 |
2007 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the DAX1 (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NR0B1) cause X-linked AHC, a disease characterized by primary adrenal failure in infancy and hypogonadotropic hypogonadism.
|
16459121 |
2006 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
DAX1 mutations are a relatively frequent cause of adrenal failure in this group of boys.
|
16684822 |
2006 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Here we describe two novel DAX-1 mutations, Y214X and I361T, associated with childhood-onset primary adrenal failure.
|
17054473 |
2006 |
Adrenal gland hypofunction
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Thus, unified mechanism how DAX-1 gene defect gives rise to adrenal insufficiency, hypothalamic/pituitary hypogonadism and impaired spermatogenesis remains established.
|
12943739 |
2003 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NR0B1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive abnormalities later in life.
|
12519885 |
2003 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Deletion of the GK and DAX1 genes was found in one child with symptoms of adrenal failure.
|
12636049 |
2003 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This case demonstrates that partial loss-of-function mutations in DAX1 can present with hypogonadotropic hypogonadism and covert adrenal failure in adulthood.
|
11788621 |
2002 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism.
|
11443184 |
2001 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
|
10675358 |
2000 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This pedigree therefore presents the novel phenotype of sex-linked hypoadrenalism without hypogonadotropic hypogonadism, with evidence of possible linkage to the DAX-1 gene.
|
10689635 |
2000 |
Adrenal gland hypofunction
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
This study suggests that mutations in DAX1 are unlikely to be a common cause of HH or pubertal delay in the absence of a concomitant history of adrenal insufficiency.
|
10599708 |
1999 |