X-linked adrenal hypoplasia congenita

Known as: Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism, ADDISON DISEASE, X-LINKED, Adrenal Hypoplasia, Congenital 
A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene… (More)
National Institutes of Health

Related topics

Related topics

7 relations
Abdominal CavityAdrenal GlandsEndocrine systemRetroperitoneal Space

Broader (3)

Adrenal gland hypofunctionCongenital hypoplasia of adrenal glandGenetic Diseases, X-Linked

Papers overview

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2006
2006
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
OBJECTIVE Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal hypoplasia congenita (AHC… (More)
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2002
2002
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita.
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with… (More)
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2002
2002
X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
Mutations in the DAX-1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome… (More)
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2001
2001
Variable presentation of X-linked adrenal hypoplasia congenita.
We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three… (More)
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Highly Cited
1999
Highly Cited
1999
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
X-linked adrenal hypoplasia congenita (AHC) is a disorder associated with primary adrenal insufficiency and hypogonadotropic… (More)
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1997
1997
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita.
To evaluate the hypothalamic-pituitary-gonadal axis in an infant with adrenal hypoplasia congenita, we measured the serum levels… (More)
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Highly Cited
1997
Highly Cited
1997
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
X-linked adrenal hypoplasia congenita (AHC) with hypogonadotropic hypogonadism was recently shown to be caused by mutations in a… (More)
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1995
1995
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.
OBJECTIVE To develop a rapid diagnostic approach to individuals with the X-linked cytomegalic form of adrenal hypoplasia… (More)
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Highly Cited
1994
Highly Cited
1994
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
ADRENAL hypoplasia congenita (AHC) is an X-linked disorder characterized by primary adrenal insufficiency1,2. Hypogonadotropic… (More)
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Highly Cited
1994
Highly Cited
1994
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal gland that results in profound hormonal… (More)
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