U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adrenal medullary hypoplasia

MedGen UID:
870276
•Concept ID:
C4024717
•
Finding
Synonym: Small adrenal medulla
 
HPO: HP:0008239

Definition

Developmental hypoplasia of the adrenal medulla. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdrenal medullary hypoplasia

Conditions with this feature

Macrocephaly/megalencephaly syndrome, autosomal recessive
MedGen UID:
812742
•Concept ID:
C3806412
•
Disease or Syndrome
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
See: Condition Record
Macrocephaly/megalencephaly syndrome, autosomal recessive

Professional guidelines

PubMed

NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Merke DP, Bornstein SR, Avila NA, Chrousos GP
Ann Intern Med 2002 Feb 19;136(4):320-34. doi: 10.7326/0003-4819-136-4-200202190-00012. PMID: 11848730

Recent clinical studies

Etiology

Neuroendocrine contribution to sex-related variations in adverse air pollution health effects.
Alewel DI, Kodavanti UP
J Toxicol Environ Health B Crit Rev 2024 Nov 16;27(8):287-314. Epub 2024 Jul 29 doi: 10.1080/10937404.2024.2383637. PMID: 39075643
The quest to develop an effective therapy for neuroblastoma.
Bhoopathi P, Mannangatti P, Emdad L, Das SK, Fisher PB
J Cell Physiol 2021 Nov;236(11):7775-7791. Epub 2021 Apr 9 doi: 10.1002/jcp.30384. PMID: 33834508
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
The adrenal medulla and Parkinson's disease.
Stoddard SL
Rev Neurosci 1994 Oct-Dec;5(4):293-307. doi: 10.1515/revneuro.1994.5.4.293. PMID: 7697198
Multiple endocrine neoplasia, type 2b.
Carney JA, Sizemore GW, Hayles AB
Pathobiol Annu 1978;8:105-53. PMID: 364372

Diagnosis

Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis.
Ganni R, Torpy DJ, Falhammar H, Louise Rushworth R
J Clin Endocrinol Metab 2023 Aug 18;108(9):e885-e892. doi: 10.1210/clinem/dgad121. PMID: 36896586Free PMC Article
The human adrenal cortex: growth control and disorders.
Lotfi CFP, Kremer JL, Dos Santos Passaia B, Cavalcante IP
Clinics (Sao Paulo) 2018 Sep 6;73(suppl 1):e473s. doi: 10.6061/clinics/2018/e473s. PMID: 30208164Free PMC Article
Biological and Genetic Features of Neuroblastoma and Their Clinical Importance.
Aygun N
Curr Pediatr Rev 2018;14(2):73-90. doi: 10.2174/1573396314666180129101627. PMID: 29380702
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Congenital adrenal hyperplasia.
Merke DP, Bornstein SR
Lancet 2005 Jun 18-24;365(9477):2125-36. doi: 10.1016/S0140-6736(05)66736-0. PMID: 15964450

Therapy

Neuroendocrine contribution to sex-related variations in adverse air pollution health effects.
Alewel DI, Kodavanti UP
J Toxicol Environ Health B Crit Rev 2024 Nov 16;27(8):287-314. Epub 2024 Jul 29 doi: 10.1080/10937404.2024.2383637. PMID: 39075643
The quest to develop an effective therapy for neuroblastoma.
Bhoopathi P, Mannangatti P, Emdad L, Das SK, Fisher PB
J Cell Physiol 2021 Nov;236(11):7775-7791. Epub 2021 Apr 9 doi: 10.1002/jcp.30384. PMID: 33834508
Neuroendocrine Regulation of Air Pollution Health Effects: Emerging Insights.
Snow SJ, Henriquez AR, Costa DL, Kodavanti UP
Toxicol Sci 2018 Jul 1;164(1):9-20. doi: 10.1093/toxsci/kfy129. PMID: 29846720Free PMC Article
Major depressive disorder.
Otte C, Gold SM, Penninx BW, Pariante CM, Etkin A, Fava M, Mohr DC, Schatzberg AF
Nat Rev Dis Primers 2016 Sep 15;2:16065. doi: 10.1038/nrdp.2016.65. PMID: 27629598
Sarin experiences in Japan: acute toxicity and long-term effects.
Yanagisawa N, Morita H, Nakajima T
J Neurol Sci 2006 Nov 1;249(1):76-85. Epub 2006 Sep 7 doi: 10.1016/j.jns.2006.06.007. PMID: 16962140

Prognosis

The quest to develop an effective therapy for neuroblastoma.
Bhoopathi P, Mannangatti P, Emdad L, Das SK, Fisher PB
J Cell Physiol 2021 Nov;236(11):7775-7791. Epub 2021 Apr 9 doi: 10.1002/jcp.30384. PMID: 33834508
Genetics and imaging of pheochromocytomas and paragangliomas: current update.
Katabathina VS, Rajebi H, Chen M, Restrepo CS, Salman U, Vikram R, Menias CO, Prasad SR
Abdom Radiol (NY) 2020 Apr;45(4):928-944. doi: 10.1007/s00261-019-02044-w. PMID: 31069476
The human adrenal cortex: growth control and disorders.
Lotfi CFP, Kremer JL, Dos Santos Passaia B, Cavalcante IP
Clinics (Sao Paulo) 2018 Sep 6;73(suppl 1):e473s. doi: 10.6061/clinics/2018/e473s. PMID: 30208164Free PMC Article
Neuroendocrine Regulation of Air Pollution Health Effects: Emerging Insights.
Snow SJ, Henriquez AR, Costa DL, Kodavanti UP
Toxicol Sci 2018 Jul 1;164(1):9-20. doi: 10.1093/toxsci/kfy129. PMID: 29846720Free PMC Article
Biological and Genetic Features of Neuroblastoma and Their Clinical Importance.
Aygun N
Curr Pediatr Rev 2018;14(2):73-90. doi: 10.2174/1573396314666180129101627. PMID: 29380702

Clinical prediction guides

Developmental role of PHD2 in the pathogenesis of pseudohypoxic pheochromocytoma.
Eckardt L, Prange-Barczynska M, Hodson EJ, Fielding JW, Cheng X, Lima JDCC, Kurlekar S, Douglas G, Ratcliffe PJ, Bishop T
Endocr Relat Cancer 2021 Oct 18;28(12):757-772. doi: 10.1530/ERC-21-0211. PMID: 34658364Free PMC Article
Neuroendocrine Regulation of Air Pollution Health Effects: Emerging Insights.
Snow SJ, Henriquez AR, Costa DL, Kodavanti UP
Toxicol Sci 2018 Jul 1;164(1):9-20. doi: 10.1093/toxsci/kfy129. PMID: 29846720Free PMC Article
Origin and initiation mechanisms of neuroblastoma.
Tsubota S, Kadomatsu K
Cell Tissue Res 2018 May;372(2):211-221. Epub 2018 Feb 14 doi: 10.1007/s00441-018-2796-z. PMID: 29445860
Biological and Genetic Features of Neuroblastoma and Their Clinical Importance.
Aygun N
Curr Pediatr Rev 2018;14(2):73-90. doi: 10.2174/1573396314666180129101627. PMID: 29380702
The adrenal medulla and Parkinson's disease.
Stoddard SL
Rev Neurosci 1994 Oct-Dec;5(4):293-307. doi: 10.1515/revneuro.1994.5.4.293. PMID: 7697198

Recent systematic reviews

Adrenal Medullary Hyperplasia: A Systematic Review and Meta-analysis.
Ganni R, Torpy DJ, Falhammar H, Louise Rushworth R
J Clin Endocrinol Metab 2023 Aug 18;108(9):e885-e892. doi: 10.1210/clinem/dgad121. PMID: 36896586Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On
    • Adrenal medullary hypoplasia
      Adrenal medullary hypoplasia
      MedGen
    • Self-Help Devices
      Self-Help Devices
      Devices, not affixed to the body, designed to help persons having musculoskeletal or neuromuscular disabilities to perform activities involving movement....<br/>
      MeSH
    • Disabled Children
      Disabled Children
      Children with mental or physical disabilities that interfere with usual activities of daily living and that may require accommodation or intervention.<br/>Year introduced: 1998
      MeSH
    • Bile Duct Diseases
      Bile Duct Diseases
      Diseases in any part of the ductal system of the BILIARY TRACT from the smallest BILE CANALICULI to the largest COMMON BILE DUCT.<br/>Year introduced: 1980
      MeSH
    • Postcholecystectomy Syndrome
      Postcholecystectomy Syndrome
      Abdominal symptoms after removal of the GALLBLADDER. The common postoperative symptoms are often the same as those present before the operation, such as COLIC, bloating, NAUSE...<br/>Year introduced: 1994
      MeSH

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...