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Decreased circulating ACTH concentration

MedGen UID:
1841520
Concept ID:
C5826343
Finding
HPO: HP:0002920

Definition

The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating ACTH concentration

Conditions with this feature

ACTH-independent macronodular adrenal hyperplasia 1
MedGen UID:
347456
Concept ID:
C1857451
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation of 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele.
Pigmented nodular adrenocortical disease, primary, 1
MedGen UID:
400627
Concept ID:
C1864846
Disease or Syndrome
Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1; 160980), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical Disease See also PPNAD2 (610475), caused by mutation in the PDE11A gene (604961) on chromosome 2q31; PPNAD3 (614190), caused by mutation in the PDE8B gene (603390) on chromosome 5q13; and PPNAD4 (615830), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (601639).
Pigmented nodular adrenocortical disease, primary, 2
MedGen UID:
355843
Concept ID:
C1864851
Disease or Syndrome
Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.
Pituitary hormone deficiency, combined, 6
MedGen UID:
462790
Concept ID:
C3151440
Disease or Syndrome
Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.
ACTH-independent macronodular adrenal hyperplasia 2
MedGen UID:
863240
Concept ID:
C4014803
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).
Pituitary hormone deficiency, combined or isolated, 8
MedGen UID:
1841011
Concept ID:
C5830375
Disease or Syndrome
Combined pituitary hormone deficiency-8 (CPHD8) is an autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone (GH; 139250) deficiency with variable deficiencies of other pituitary hormones, including TSH (see 188540), ACTH, and LH/FSH (see 118850). Posterior pituitary deficiency leading to central diabetes insipidus is rare (Bashamboo et al., 2017). Many patients are diagnosed with 'pituitary stalk interruption syndrome' (PSIS), which is characterized by a thin or absent pituitary stalk, absent or ectopic posterior pituitary, and hypoplasia of the anterior pituitary demonstrated on brain imaging, although this classic triad may be incomplete. Brauner et al. (2020) noted the complex phenotypic and genetic heterogeneity of PSIS, and concluded that it is a feature of genetic disorders or syndromes rather than a specific clinical entity. For a discussion of genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).
Neurooculorenal syndrome
MedGen UID:
1841013
Concept ID:
C5830377
Disease or Syndrome
Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).

Professional guidelines

PubMed

Holmes CL, Patel BM, Russell JA, Walley KR
Chest 2001 Sep;120(3):989-1002. doi: 10.1378/chest.120.3.989. PMID: 11555538
Marugo M, Bernasconi D, Meozzi M, Del Monte P, Zino V, Primarolo P, Badaracco B
J Endocrinol Invest 1994 Mar;17(3):195-9. doi: 10.1007/BF03347717. PMID: 8051342

Recent clinical studies

Etiology

Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Krysiak R, Kowalcze K, Okopień B
Gynecol Obstet Invest 2022;87(6):373-380. Epub 2022 Dec 14 doi: 10.1159/000527365. PMID: 36516786
Peeters B, Langouche L, Van den Berghe G
Compr Physiol 2017 Dec 12;8(1):283-298. doi: 10.1002/cphy.c170022. PMID: 29357129
Roelfsema F, Keenan DM, Veldhuis JD
J Clin Endocrinol Metab 2011 Dec;96(12):3768-74. Epub 2011 Sep 14 doi: 10.1210/jc.2011-1878. PMID: 21917875Free PMC Article
Schultz CH, Rivers EP, Feldkamp CS, Goad EG, Smithline HA, Martin GB, Fath JJ, Wortsman J, Nowak RM
Crit Care Med 1993 Sep;21(9):1339-47. doi: 10.1097/00003246-199309000-00018. PMID: 8396524

Diagnosis

Krysiak R, Kowalcze K, Okopień B
Gynecol Obstet Invest 2022;87(6):373-380. Epub 2022 Dec 14 doi: 10.1159/000527365. PMID: 36516786
Peeters B, Langouche L, Van den Berghe G
Compr Physiol 2017 Dec 12;8(1):283-298. doi: 10.1002/cphy.c170022. PMID: 29357129
Roelfsema F, Keenan DM, Veldhuis JD
J Clin Endocrinol Metab 2011 Dec;96(12):3768-74. Epub 2011 Sep 14 doi: 10.1210/jc.2011-1878. PMID: 21917875Free PMC Article
Stratakis CA, Karl M, Schulte HM, Chrousos GP
Ann N Y Acad Sci 1994 Nov 30;746:362-74; discussion 374-6. doi: 10.1111/j.1749-6632.1994.tb39257.x. PMID: 7825890
Schultz CH, Rivers EP, Feldkamp CS, Goad EG, Smithline HA, Martin GB, Fath JJ, Wortsman J, Nowak RM
Crit Care Med 1993 Sep;21(9):1339-47. doi: 10.1097/00003246-199309000-00018. PMID: 8396524

Therapy

Krysiak R, Kowalcze K, Okopień B
Pharmacology 2023;108(3):245-254. Epub 2023 Feb 15 doi: 10.1159/000528939. PMID: 36791677Free PMC Article
Krysiak R, Kowalcze K, Okopień B
Gynecol Obstet Invest 2022;87(6):373-380. Epub 2022 Dec 14 doi: 10.1159/000527365. PMID: 36516786
Ajdžanović VZ, Filipović BR, Šošić Jurjević BT, Milošević VL
Fundam Clin Pharmacol 2017 Aug;31(4):372-382. Epub 2017 Mar 1 doi: 10.1111/fcp.12277. PMID: 28186359
Salek FS, Bigos KL, Kroboth PD
J Clin Pharmacol 2002 Mar;42(3):247-66. doi: 10.1177/00912700222011274. PMID: 11865961
Holmes CL, Patel BM, Russell JA, Walley KR
Chest 2001 Sep;120(3):989-1002. doi: 10.1378/chest.120.3.989. PMID: 11555538

Prognosis

Harada T, Uozumi Y, Fukuoka H, Miyake S, Yamamoto D, Okamura Y, Ishii T, Tatsumi S, Mizobe T, Aihara H, Tanaka K, Kohmura E, Sasayama T; Kobe University SAH study collaborators
J Clin Neurosci 2022 Sep;103:131-140. Epub 2022 Jul 21 doi: 10.1016/j.jocn.2022.07.016. PMID: 35872447
Peeters B, Langouche L, Van den Berghe G
Compr Physiol 2017 Dec 12;8(1):283-298. doi: 10.1002/cphy.c170022. PMID: 29357129
Licinio J, Negrao AB, Wong ML
Transl Psychiatry 2014 Oct 28;4(10):e475. doi: 10.1038/tp.2014.115. PMID: 25350298Free PMC Article
Reis FM, Fadalti M, Florio P, Petraglia F
J Soc Gynecol Investig 1999 May-Jun;6(3):109-19. doi: 10.1016/s1071-5576(99)00009-x. PMID: 10376266
Schultz CH, Rivers EP, Feldkamp CS, Goad EG, Smithline HA, Martin GB, Fath JJ, Wortsman J, Nowak RM
Crit Care Med 1993 Sep;21(9):1339-47. doi: 10.1097/00003246-199309000-00018. PMID: 8396524

Clinical prediction guides

Krysiak R, Kowalcze K, Okopień B
Gynecol Obstet Invest 2022;87(6):373-380. Epub 2022 Dec 14 doi: 10.1159/000527365. PMID: 36516786
Belgorosky A, Baquedano MS, Guercio G, Rivarola MA
Horm Res 2008;70(5):257-67. Epub 2008 Sep 30 doi: 10.1159/000157871. PMID: 18824863
Schultz CH, Rivers EP, Feldkamp CS, Goad EG, Smithline HA, Martin GB, Fath JJ, Wortsman J, Nowak RM
Crit Care Med 1993 Sep;21(9):1339-47. doi: 10.1097/00003246-199309000-00018. PMID: 8396524
Parker LN
Endocrinol Metab Clin North Am 1991 Mar;20(1):71-83. PMID: 2029889
Chrousos GP, Loriaux DL, Tomita M, Brandon DD, Renquist D, Albertson B, Lipsett MB
Adv Exp Med Biol 1986;196:129-44. doi: 10.1007/978-1-4684-5101-6_9. PMID: 3012975

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