ACTH Deficiency

Common Name(s)

ACTH Deficiency

Congenital isolated adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases; prolonged cholestatic jaundice; and very low plasma ACTH levels with no significant response to CRH ({122560}). Plasma cortisol levels are also extremely low ({11:Vallette-Kasic et al., 2005}). TBX19 is required for initiation of transcription of the POMC gene ({176830}), which produces the precursor peptide from which ACTH is derived ({6:Lamolet et al., 2001}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "ACTH Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "ACTH Deficiency" returned 37 free, full-text research articles on human participants. First 3 results:

Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis.
 

Author(s): Mahdi Alsaleem, Lina Saadeh, Amrit Misra, Shailender Madani

Journal:

 

Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive ...

Last Updated: 18 Aug 2016

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Repeated hypoglycemia caused by the overproduction of anti-insulin antibodies and isolated ACTH deficiency in a type 2 diabetic patient receiving insulin therapy.
 

Author(s): Masanori Yoshida, Miho Murakami, Koichiro Ogawa, Masato Asai, Misaki Miyata, Harumi Maeda, Yutaka Oiso

Journal: Diabetes Care. 2013 Feb;36(2):e22.

 

Last Updated: 25 Jan 2013

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Isolated ACTH deficiency presenting with a glucocorticoid-responsive triphasic wave coma.
 

Author(s): Toshihisa Sugita, Masashi Nakajima, Daisuke Arai, Kohichiro Kuwabara, Mitsuru Kawamura

Journal: Intern. Med.. 2012 ;51(14):1913-5.

 

We report the case of a 58-year-old woman who presented with acutely developed coma characterized by electroencephalographic triphasic waves (TWs) in the absence of metabolic derangement. The patient's coma and TWs were promptly resolved after the administration of glucocorticoids, ...

Last Updated: 23 Jul 2012

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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 "ACTH Deficiency" returned 5 free, full-text review articles on human participants. First 3 results:

Primary hypothyroidism and isolated ACTH deficiency induced by nivolumab therapy: Case report and review.
 

Author(s): Mei Fang Zeng, Li Chen, Hong Ying Ye, Wei Gong, Li Nuo Zhou, Yi Ming Li, Xiao Long Zhao

Journal: Medicine (Baltimore). 2017 Nov;96(44):e8426.

 

Nivolumab is a monoclonal IgG antibody blocking programmed death receptor-1 (PD1), leading to restoration of the natural T-cell-mediated immune response against the cancer cells. However, it also causes plenty of autoimmune-related adverse events, which often involves endocrine system.

Last Updated: 2 Nov 2017

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Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
 

Author(s): L F Chan, A J L Clark, L A Metherell

Journal: Horm. Res.. 2008 ;69(2):75-82.

 

Familial glucocorticoid deficiency (FGD), otherwise known as hereditary unresponsiveness to ACTH, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Mutations of the ACTH receptor, also known as the melanocortin-2 ...

Last Updated: 16 Jan 2008

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[Tpit mutations reveal a new model of pituitary differentiation and account for isolated ACTH deficiency].
 

Author(s): Anne-Marie Pulichino, Sophie Vallette-Kasic, Catherine Couture, Thierry Brue, Jacques Drouin

Journal: Med Sci (Paris). 2004 Nov;20(11):1009-13.

 

Pituitary hormone-producing cells differentiate sequentially from a common epithelial primordium, Rathke's pouch, under the combinatorial action of a subset of tissue- and cell-restricted transcription factors. Some factors have been implicated in early events of pituitary induction ...

Last Updated: 4 Nov 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Setmelanotide for the Treatment of Early-Onset POMC Deficiency Obesity
 

Status: Recruiting

Condition Summary: Pro-opiomelanocortin (POMC) Deficiency Obesity

 

Last Updated: 13 Jul 2017

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RM-493 Treatment Trial in Proopiomelanocortin (POMC) Deficient Patients
 

Status: Recruiting

Condition Summary: Homozygous or Compound Heterozygous POMC, LEPR or PCSK1 Gene Mutation

 

Last Updated: 19 Feb 2016

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