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Pigmented nodular adrenocortical disease, primary, 3(PPNAD3)

MedGen UID:
481724
•Concept ID:
C3280094
•
Disease or Syndrome
Synonyms: CUSHING SYNDROME, ADRENAL, DUE TO PPNAD3; PPNAD3
 
Gene (location): PDE8B (5q13.3)
 
Monarch Initiative: MONDO:0013616
OMIM®: 614190

Definition

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. [from MONDO]

Clinical features

From HPO
Adrenal hyperplasia
MedGen UID:
301220
•Concept ID:
C1621895
•
Disease or Syndrome
Enlargement of the adrenal gland.
See: Feature record | Search on this feature
Increased circulating cortisol level
MedGen UID:
871175
•Concept ID:
C4025651
•
Finding
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
See: Feature record | Search on this feature

Professional guidelines

PubMed

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.
Bouys L, Bertherat J
Eur J Endocrinol 2021 Mar;184(3):R99-R109. doi: 10.1530/EJE-20-1120. PMID: 33444222
Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia.
Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI, Clark AJ, Reznek RH, Grossman AB, Savage MO
Clin Endocrinol (Oxf) 2004 Nov;61(5):553-9. doi: 10.1111/j.1365-2265.2004.02124.x. PMID: 15521956
Paradoxical response to dexamethasone in the diagnosis of primary pigmented nodular adrenocortical disease.
Stratakis CA, Sarlis N, Kirschner LS, Carney JA, Doppman JL, Nieman LK, Chrousos GP, Papanicolaou DA
Ann Intern Med 1999 Oct 19;131(8):585-91. doi: 10.7326/0003-4819-131-8-199910190-00006. PMID: 10523219

Recent clinical studies

Etiology

Update on primary micronodular bilateral adrenocortical diseases.
Maillet M, Bourdeau I, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2020 Jun;27(3):132-139. doi: 10.1097/MED.0000000000000538. PMID: 32209819
Adrenalectomy for non-neuroblastic pathology in children.
Traynor MD Jr, Sada A, Thompson GB, Moir CR, Bancos I, Farley DR, Dy BM, Lyden ML, Habermann EB, McKenzie TJ
Pediatr Surg Int 2020 Feb;36(2):129-135. Epub 2019 Nov 5 doi: 10.1007/s00383-019-04589-9. PMID: 31691026
Adrenal tumors: when to search for a germline abnormality?
Gimenez-Roqueplo AP
Curr Opin Oncol 2019 May;31(3):230-235. doi: 10.1097/CCO.0000000000000525. PMID: 30985498
Failure to Thrive in the Context of Carney Complex.
Tirosh A, Auerbach A, Bonella B, Zavras PD, Belyavskaya E, Lyssikatos C, Meir K, Weiss R, Daum H, Lodish MB, Gillis D, Stratakis CA
Horm Res Paediatr 2018;89(1):38-46. Epub 2017 Nov 21 doi: 10.1159/000484690. PMID: 29161691
Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome.
Shenoy BV, Carpenter PC, Carney JA
Am J Surg Pathol 1984 May;8(5):335-44. doi: 10.1097/00000478-198405000-00002. PMID: 6329005

Diagnosis

Adrenocortical hyperplasia: A multifaceted disease.
Bourdeau I, Parisien-La Salle S, Lacroix A
Best Pract Res Clin Endocrinol Metab 2020 May;34(3):101386. Epub 2020 Feb 4 doi: 10.1016/j.beem.2020.101386. PMID: 32115357
Adrenal tumors: when to search for a germline abnormality?
Gimenez-Roqueplo AP
Curr Opin Oncol 2019 May;31(3):230-235. doi: 10.1097/CCO.0000000000000525. PMID: 30985498
Cushing Syndrome: Diagnostic Workup and Imaging Features, With Clinical and Pathologic Correlation.
Wagner-Bartak NA, Baiomy A, Habra MA, Mukhi SV, Morani AC, Korivi BR, Waguespack SG, Elsayes KM
AJR Am J Roentgenol 2017 Jul;209(1):19-32. doi: 10.2214/AJR.16.17290. PMID: 28639924
Primary pigmented nodular adrenocortical disease and Cushing's syndrome.
Horvath A, Stratakis C
Arq Bras Endocrinol Metabol 2007 Nov;51(8):1238-44. doi: 10.1590/s0004-27302007000800009. PMID: 18209861
Rare syndromes.
Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412

Therapy

Carney complex predisposes to breast cancer: prospective study of 50 women.
Vaduva P, Violon F, Jouinot A, Bouys L, Espiard S, Bonnet-Serrano F, North MO, Cardot-Bauters C, Raverot G, Hieronimus S, Lefebvre H, Nunes ML, Tabarin A, Groussin L, Assié G, Sibony M, Vantyghem MC, Pasmant E, Bertherat J
Eur J Endocrinol 2024 Feb 1;190(2):121-129. doi: 10.1093/ejendo/lvae010. PMID: 38252880
Update on primary micronodular bilateral adrenocortical diseases.
Maillet M, Bourdeau I, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2020 Jun;27(3):132-139. doi: 10.1097/MED.0000000000000538. PMID: 32209819
Does somatostatin have a role in the regulation of cortisol secretion in primary pigmented nodular adrenocortical disease (ppnad)? a clinical and in vitro investigation.
Bram Z, Xekouki P, Louiset E, Keil MF, Avgeropoulos D, Giatzakis C, Nesterova M, Sinaii N, Hofland LJ, Cherqaoui R, Lefebvre H, Stratakis CA
J Clin Endocrinol Metab 2014 May;99(5):E891-901. Epub 2014 Feb 10 doi: 10.1210/jc.2013-2657. PMID: 24512486Free PMC Article
Molecular genetics of adrenocortical tumor formation and potential pharmacologic targets.
Rauschecker M, Stratakis CA
Minerva Endocrinol 2012 Jun;37(2):133-9. PMID: 22691887Free PMC Article
Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia.
Storr HL, Mitchell H, Swords FM, Main KM, Hindmarsh PC, Betts PR, Shaw NJ, Johnston DI, Clark AJ, Reznek RH, Grossman AB, Savage MO
Clin Endocrinol (Oxf) 2004 Nov;61(5):553-9. doi: 10.1111/j.1365-2265.2004.02124.x. PMID: 15521956

Prognosis

Functional characteristics and research trends of PDE11A in human diseases (Review).
Kong G, Lee H, Vo TT, Juang U, Kwon SH, Park J, Park J, Kim SH
Mol Med Rep 2022 Oct;26(4) Epub 2022 Aug 5 doi: 10.3892/mmr.2022.12814. PMID: 35929507Free PMC Article
Genetics of tumors of the adrenal cortex.
Bonnet-Serrano F, Bertherat J
Endocr Relat Cancer 2018 Mar;25(3):R131-R152. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0361. PMID: 29233839
Primary pigmented nodular adrenocortical disease: literature review and case report of a 6-year-old boy.
Katanić D, Kafka D, Živojinov M, Vlaški J, Budakov Z, Knežević Pogančev M, Vorgučin I, Ćuk T
J Pediatr Endocrinol Metab 2017 May 1;30(5):603-609. doi: 10.1515/jpem-2016-0249. PMID: 28391254
Adrenocorticotropic hormone-independent Cushing's syndrome.
Bourdeau I, Lampron A, Costa MH, Tadjine M, Lacroix A
Curr Opin Endocrinol Diabetes Obes 2007 Jun;14(3):219-25. doi: 10.1097/MED.0b013e32814db842. PMID: 17940443
Bilateral primary pigmented nodular adrenocortical disease. Rare cause of the Cushing syndrome.
Shenoy BV, Carpenter PC, Carney JA
Am J Surg Pathol 1984 May;8(5):335-44. doi: 10.1097/00000478-198405000-00002. PMID: 6329005

Clinical prediction guides

Genetics of tumors of the adrenal cortex.
Bonnet-Serrano F, Bertherat J
Endocr Relat Cancer 2018 Mar;25(3):R131-R152. Epub 2017 Dec 12 doi: 10.1530/ERC-17-0361. PMID: 29233839
Use of 3-Dimensional Volumetric Modeling of Adrenal Gland Size in Patients with Primary Pigmented Nodular Adrenocortical Disease.
Chrysostomou PP, Lodish MB, Turkbey EB, Papadakis GZ, Stratakis CA
Horm Metab Res 2016 Apr;48(4):242-6. Epub 2016 Apr 11 doi: 10.1055/s-0042-103686. PMID: 27065461Free PMC Article
PRKAR1A mutations in primary pigmented nodular adrenocortical disease.
Cazabat L, Ragazzon B, Groussin L, Bertherat J
Pituitary 2006;9(3):211-9. doi: 10.1007/s11102-006-0266-1. PMID: 17036196
Adrenal pathophysiology: lessons from the Carney complex.
Groussin L, Cazabat L, René-Corail F, Jullian E, Bertherat J
Horm Res 2005;64(3):132-9. Epub 2005 Sep 27 doi: 10.1159/000088586. PMID: 16192737
Primary pigmented nodular adrenocortical disease. A light and electron microscopic study of eight cases.
Travis WD, Tsokos M, Doppman JL, Nieman L, Chrousos GP, Cutler GB Jr, Loriaux DL, Norton JA
Am J Surg Pathol 1989 Nov;13(11):921-30. PMID: 2679153

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