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 6 free, full-text research articles on human participants. First 3 results:

X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.
 

Author(s): Bernardo Dias Pereira, Iris Pereira, Jorge Ralha Portugal, João Gonçalves, Luísa Raimundo

Journal: Arch Endocrinol Metab. 2015 Apr;59(2):181-5.

 

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The ...

Last Updated: 21 May 2015

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Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report.
 

Author(s): Jasmina Durković, Tatjana Milenković, Nils Krone, Silvia Parajes, Bojana Mandić

Journal: Srp Arh Celok Lek. ;142(11-12):728-31.

 

X-linked adrenal hypoplasia congenita (AHC) is a rare cause of adrenocortical insufficiency. Early postnatal diagnosis may prevent severe hypoglycemia, Addisonian crises and death. Low maternal estriol (E3) levels in the second trimester of pregnancy could indicate the possibility ...

Last Updated: 3 Mar 2015

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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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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 29 Apr 2015

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