Glucocorticoid deficiency 2

Common Name(s)

Glucocorticoid deficiency 2

Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood (summary by {1:Metherell et al., 2005}). For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 ({202200}).
 

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Condition Specific Organizations

Following organizations serve the condition "Glucocorticoid deficiency 2" for support, advocacy or research.

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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 "Glucocorticoid deficiency 2" returned 7 free, full-text research articles on human participants. First 3 results:

Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
 

Author(s): Rathi Prasad, Li F Chan, Claire R Hughes, Juan P Kaski, Julia C Kowalczyk, Martin O Savage, Catherine J Peters, Nisha Nathwani, Adrian J L Clark, Helen L Storr, Louise A Metherell

Journal: J. Clin. Endocrinol. Metab.. 2014 Aug;99(8):E1556-63.

 

Classic ACTH resistance, due to disruption of ACTH signaling, accounts for the majority of cases of familial glucocorticoid deficiency (FGD). Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance ...

Last Updated: 31 Dec 1969

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Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
 

Author(s): V Jain, L A Metherell, A David, R Sharma, P K Sharma, A J L Clark, L F Chan

Journal: Eur. J. Endocrinol.. 2011 Dec;165(6):987-91.

 

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by isolated glucocorticoid deficiency. Mutations in the ACTH receptor/melanocortin 2 receptor (MC2R), the MC2R accessory protein (MRAP) or the STAR protein (STAR) cause FGD types 1, 2 and ...

Last Updated: 31 Dec 1969

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Familial glucocorticoid deficiency type 2: a case report.
 

Author(s): Leyla Akın, Selim Kurtoğlu, Mustafa Kendirici, Mustafa Ali Akın

Journal: J Clin Res Pediatr Endocrinol. 2010 ;2(3):122-5.

 

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Glucocorticoid deficiency 2" returned 0 free, full-text review articles on human participants.

 
 
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