X-linked adrenal hypoplasia congenita

Common Name(s)

X-linked adrenal hypoplasia congenita, Congenital adrenal hypoplasia, X-linked

X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked adrenal hypoplasia congenita" for support, advocacy or research.

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National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

Last Updated: 13 Oct 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked adrenal hypoplasia congenita" for support, advocacy or research.

Logo
National Adrenal Diseases Foundation (NADF)

The National Adrenal Diseases Foundation informs, educates, and supports those with adrenal disease and their families to improve their quality of life.

http://www.nadf.us

Last Updated: 13 Oct 2014

View Details

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked adrenal hypoplasia congenita" returned 4 free, full-text research articles on human participants. First 3 results:

A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.
 

Author(s): Imran Ahmad, Wendy F Paterson, Lin Lin, Peter Adlard, Philippa Duncan, John Tolmie, John C Achermann, Malcolm D C Donaldson

Journal: Horm. Res.. 2007 ;68(1):32-7.

 

A male presented at age 2.2 years with a 6-week history of intermittent vomiting and hyperpigmentation. Investigations showed salt wasting with hyperkalaemia, a grossly impaired cortisol response to ACTH stimulation, elevated renin and ACTH. Family history revealed that two maternal ...

Last Updated: 8 Jun 2007

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DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
 

Author(s): Giovanna Mantovani, Ernesto De Menis, Giorgio Borretta, Giorgio Radetti, Sara Bondioni, Anna Spada, Luca Persani, Paolo Beck-Peccoz

Journal: Eur. J. Endocrinol.. 2006 May;154(5):685-9.

 

Mutations in the gene coding for the orphan nuclear receptor DAX1 cause X-linked adrenal hypoplasia congenita (AHC). Affected boys usually present with primary adrenal failure in early infancy or childhood. Impaired sexual development due to hypogonadotropic hypogonadism becomes manifest ...

Last Updated: 28 Apr 2006

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Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene.
 

Author(s): Ernesto De Menis, Federico Roncaroli, Vladimiro Calvari, Valerio Chiarini, Paolo Pauletto, Giovanna Camerino, Nadia Cremonini

Journal: Eur. J. Endocrinol.. 2005 Aug;153(2):211-5.

 

Mutations in the DAX-1 gene result in X-linked congenital adrenal hypoplasia. The classic clinical presentation is primary adrenal insufficiency in early life and hypogonadotropic hypogonadism at the time of expected puberty, but recent data have expanded the phenotypic spectrum of ...

Last Updated: 2 Aug 2005

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked adrenal hypoplasia congenita" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Human Placental-Derived Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Adrenoleukodystrophy; Niemann-Pick Disease; Metachromatic Leukodystrophy; Wolman Disease; Krabbe's Disease; Gaucher's Disease; Fucosidosis; Batten Disease; Severe Aplastic Anemia; Diamond-Blackfan Anemia; Amegakaryocytic Thrombocytopenia; Myelodysplastic Syndrome; Acute Myelogenous Leukemia; Acute Lymphocytic Leukemia

 

Last Updated: 23 Sep 2014

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