Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete

Common Name(s)

Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete

P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by {4:Kim et al., 2008}). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; {201710}), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by {6:Sahakitrungruang et al., 2011}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

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General Support Organizations

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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 "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.