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Adrenocorticotropic hormone excess

MedGen UID:
866773
Concept ID:
C4021124
Pathologic Function
Synonym: ACTH excess
 
HPO: HP:0011749

Definition

Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdrenocorticotropic hormone excess

Conditions with this feature

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
MedGen UID:
351256
Concept ID:
C1864947
Disease or Syndrome
Immunodeficiency-54 is an autosomal recessive primary immunodeficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of natural killer (NK) cells, and recurrent viral infections, most often affecting the respiratory tract and leading to respiratory failure. Affected individuals also have adrenal insufficiency requiring corticosteroid replacement therapy and may have an increased susceptibility to cancer. Laboratory studies of patient cells showed a DNA repair defect (summary by Gineau et al., 2012).
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
MedGen UID:
462405
Concept ID:
C3151055
Disease or Syndrome
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 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 Sahakitrungruang et al., 2011).

Professional guidelines

PubMed

Velez DA, Mayberg MR, Ludlam WH
Neurosurg Focus 2007;23(3):E4; discussion E4a. doi: 10.3171/foc.2007.23.3.5. PMID: 17961029
Gsponer J, De Tribolet N, Déruaz JP, Janzer R, Uské A, Mirimanoff RO, Reymond MJ, Rey F, Temler E, Gaillard RC, Gomez F
Medicine (Baltimore) 1999 Jul;78(4):236-69. doi: 10.1097/00005792-199907000-00004. PMID: 10424206

Recent clinical studies

Etiology

Morris LF, Harris RS, Milton DR, Waguespack SG, Habra MA, Jimenez C, Vassilopoulou-Sellin R, Lee JE, Perrier ND, Grubbs EG
Surgery 2013 Dec;154(6):1174-83; discussion 1183-4. doi: 10.1016/j.surg.2013.06.017. PMID: 24383115Free PMC Article

Diagnosis

Katharopoulos E, Di Iorgi N, Fernandez-Alvarez P, Pandey AV, Groessl M, Dubey S, Camats N, Napoli F, Patti G, Lezzi M, Maghnie M, Flück CE
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176185. PMID: 32867102Free PMC Article

Therapy

Morris LF, Harris RS, Milton DR, Waguespack SG, Habra MA, Jimenez C, Vassilopoulou-Sellin R, Lee JE, Perrier ND, Grubbs EG
Surgery 2013 Dec;154(6):1174-83; discussion 1183-4. doi: 10.1016/j.surg.2013.06.017. PMID: 24383115Free PMC Article

Prognosis

Katharopoulos E, Di Iorgi N, Fernandez-Alvarez P, Pandey AV, Groessl M, Dubey S, Camats N, Napoli F, Patti G, Lezzi M, Maghnie M, Flück CE
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176185. PMID: 32867102Free PMC Article
Morris LF, Harris RS, Milton DR, Waguespack SG, Habra MA, Jimenez C, Vassilopoulou-Sellin R, Lee JE, Perrier ND, Grubbs EG
Surgery 2013 Dec;154(6):1174-83; discussion 1183-4. doi: 10.1016/j.surg.2013.06.017. PMID: 24383115Free PMC Article

Clinical prediction guides

Katharopoulos E, Di Iorgi N, Fernandez-Alvarez P, Pandey AV, Groessl M, Dubey S, Camats N, Napoli F, Patti G, Lezzi M, Maghnie M, Flück CE
Int J Mol Sci 2020 Aug 27;21(17) doi: 10.3390/ijms21176185. PMID: 32867102Free PMC Article
Morris LF, Harris RS, Milton DR, Waguespack SG, Habra MA, Jimenez C, Vassilopoulou-Sellin R, Lee JE, Perrier ND, Grubbs EG
Surgery 2013 Dec;154(6):1174-83; discussion 1183-4. doi: 10.1016/j.surg.2013.06.017. PMID: 24383115Free PMC Article

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