ACTH Resistance

Common Name(s)

ACTH Resistance

Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and, because of the failure of the negative feedback loop to the pituitary and hypothalamus, grossly elevated ACTH levels (summary by {2:Clark et al., 2009}). Genetic Heterogeneity of Familial Glucocorticoid Deficiency Familial glucocorticoid deficiency-2 (GCCD2; {607398}) is caused by mutation in the MRAP gene ({609196}) on chromosome 21q22. GCCD3 ({609197}) has been mapped to chromosome 8q11.2-q13.2. GCCD4 with or without mineralocorticoid deficiency ({614736}) is caused by mutation in the NNT gene ({607878}) on chromosome 5p12.
 

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Condition Specific Organizations

Following organizations serve the condition "ACTH Resistance" 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 "ACTH Resistance" returned 3 free, full-text research articles on human participants. First 3 results:

Heterogeneity in the molecular basis of ACTH resistance syndrome.
 

Author(s): Cristhianna Viesti Advincula Collares, Jose Antunes-Rodrigues, Ayrton Custodio Moreira, Suzana Nesi Franca, Luiz Alberto Pereira, Maria Marta Sarquis Soares, Jorge Elias Junior, Adrian J Clark, Margaret de Castro, Lucila Leico Kagohara Elias

Journal: Eur. J. Endocrinol.. 2008 Jul;159(1):61-8.

 

ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor ...

Last Updated: 24 Jun 2008

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Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.
 

Author(s): Catherine E Keegan, Janna E Hutz, Andrea S Krause, Katrin Koehler, Louise A Metherell, Sosipatros Boikos, Sotirios Stergiopoulos, Adrian J L Clark, Constantine A Stratakis, Angela Huebner, Gary D Hammer

Journal: Clin. Endocrinol. (Oxf). 2007 Aug;67(2):168-74.

 

ACTH resistance is a feature of several human syndromes with known genetic causes, including familial glucocorticoid deficiency (types 1 and 2) and triple A syndrome. However, many patients with ACTH resistance lack an identifiable genetic aetiology. The human homolog of the Acd gene, ...

Last Updated: 30 Jul 2007

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Unilateral adrenalectomy improves insulin resistance and diabetes mellitus in a patient with ACTH-independent macronodular adrenal hyperplasia.
 

Author(s): Manabu Ogura, Ikuyo Kusaka, Shoichiro Nagasaka, Toshimitsu Yatagai, Satoshi Shinozaki, Naoki Itabashi, Tomoatsu Nakamura, Mizue Yokoyama, San-E Ishikawa, Shun Ishibashi

Journal: Endocr. J.. 2003 Dec;50(6):715-21.

 

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome. Bilateral adrenalectomy is considered to be a standard therapy for AIMAH, although lifetime replacement of glucocorticoids is necessary after the procedure. This paper describes a subject ...

Last Updated: 7 Jan 2004

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Reviews from the PubMed Database

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The terms "ACTH Resistance" 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

Treatment of Proteinuria Due to Treatment Resistant or Treatment Intolerant Idiopathic FSGS
 

Status: Recruiting

Condition Summary: Idiopathic Focal Segmental Glomerulosclerosis

 

Last Updated: 2 Nov 2016

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