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Abnormality of adrenal physiology

MedGen UID:
868802
•Concept ID:
C4023212
•
Pathologic Function
HPO: HP:0011733

Definition

A functional abnormality of the adrenal glands. [from HPO]

Conditions with this feature

Syndromic X-linked intellectual disability 17
MedGen UID:
477091
•Concept ID:
C3275460
•
Mental or Behavioral Dysfunction
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals.
See: Condition Record
Syndromic X-linked intellectual disability 17

Professional guidelines

PubMed

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC
Endocr Rev 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. PMID: 33961029Free PMC Article
Pathogenesis and treatment of primary aldosteronism.
Zennaro MC, Boulkroun S, Fernandes-Rosa FL
Nat Rev Endocrinol 2020 Oct;16(10):578-589. Epub 2020 Jul 28 doi: 10.1038/s41574-020-0382-4. PMID: 32724183
POEMS Syndrome: 2019 Update on diagnosis, risk-stratification, and management.
Dispenzieri A
Am J Hematol 2019 Jul;94(7):812-827. Epub 2019 May 23 doi: 10.1002/ajh.25495. PMID: 31012139

Recent clinical studies

Etiology

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia.
Prete A, Auchus RJ, Ross RJ
Eur J Endocrinol 2021 Nov 30;186(1):R1-R14. doi: 10.1530/EJE-21-0794. PMID: 34735372Free PMC Article
Disorders of sex development.
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
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
Asthma and pregnancy.
Vatti RR, Teuber SS
Clin Rev Allergy Immunol 2012 Aug;43(1-2):45-56. doi: 10.1007/s12016-011-8277-8. PMID: 21858482

Diagnosis

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Pathogenesis and treatment of primary aldosteronism.
Zennaro MC, Boulkroun S, Fernandes-Rosa FL
Nat Rev Endocrinol 2020 Oct;16(10):578-589. Epub 2020 Jul 28 doi: 10.1038/s41574-020-0382-4. PMID: 32724183
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.
Speiser PW, White PC
N Engl J Med 2003 Aug 21;349(8):776-88. doi: 10.1056/NEJMra021561. PMID: 12930931
Amenorrhea.
Marchant DJ
Clin Obstet Gynecol 1969 Sep;12(3):693-707. doi: 10.1097/00003081-196909000-00010. PMID: 5388335

Therapy

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
Female Androgenetic Alopecia: An Update on Diagnosis and Management.
Starace M, Orlando G, Alessandrini A, Piraccini BM
Am J Clin Dermatol 2020 Feb;21(1):69-84. doi: 10.1007/s40257-019-00479-x. PMID: 31677111
Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC
J Clin Endocrinol Metab 2018 Nov 1;103(11):4043-4088. doi: 10.1210/jc.2018-01865. PMID: 30272171Free PMC Article
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
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

Prognosis

Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.
Merke DP, Mallappa A, Arlt W, Brac de la Perriere A, Lindén Hirschberg A, Juul A, Newell-Price J, Perry CG, Prete A, Rees DA, Reisch N, Stikkelbroeck N, Touraine P, Maltby K, Treasure FP, Porter J, Ross RJ
J Clin Endocrinol Metab 2021 Apr 23;106(5):e2063-e2077. doi: 10.1210/clinem/dgab051. PMID: 33527139Free PMC Article
Congenital adrenal hyperplasia.
El-Maouche D, Arlt W, Merke DP
Lancet 2017 Nov 11;390(10108):2194-2210. Epub 2017 May 30 doi: 10.1016/S0140-6736(17)31431-9. PMID: 28576284
Nonclassic adrenal hyperplasia.
Moran C
Fertil Steril 2006 Jul;86 Suppl 1:S3. doi: 10.1016/j.fertnstert.2006.03.004. PMID: 16798284
Nonclassic 21-hydroxylase deficiency.
New MI
Fertil Steril 2006 Jul;86 Suppl 1:S2. doi: 10.1016/j.fertnstert.2006.03.005. PMID: 16798278
Fetal growth retardation.
Aust N Z J Obstet Gynaecol 1969 May;9(2):75-81. PMID: 4183810

Clinical prediction guides

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
Carney complex.
Espiard S, Bertherat J
Front Horm Res 2013;41:50-62. Epub 2013 Mar 19 doi: 10.1159/000345669. PMID: 23652670
The influence of pituitary, adrenal, and parathyroid hormones on hemostasis and thrombosis.
Squizzato A, Van Zaane B, Gerdes VE, Büller HR
Semin Thromb Hemost 2011 Feb;37(1):41-8. Epub 2011 Jan 19 doi: 10.1055/s-0030-1270070. PMID: 21249603
Adrenal vein sampling.
Kahn SL, Angle JF
Tech Vasc Interv Radiol 2010 Jun;13(2):110-25. doi: 10.1053/j.tvir.2010.02.006. PMID: 20540920
von Hippel-Lindau disease: genetic and clinical observations.
Iliopoulos O
Front Horm Res 2001;28:131-66. doi: 10.1159/000061052. PMID: 11443850

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
Pediatric endocrinopathies related to COVID-19: an update.
Memar EHE, Mohsenipour R, Sadrosadat ST, Rostami P
World J Pediatr 2023 Sep;19(9):823-834. Epub 2022 Dec 8 doi: 10.1007/s12519-022-00662-x. PMID: 36480134Free PMC Article
Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.
Navarro-Zambrana AN, Sheets LR
Horm Res Paediatr 2023;96(3):249-258. Epub 2022 Aug 16 doi: 10.1159/000526401. PMID: 35973409
Digit ratio (2D:4D) and congenital adrenal hyperplasia (CAH): Systematic literature review and meta-analysis.
Richards G, Browne WV, Aydin E, Constantinescu M, Nave G, Kim MS, Watson SJ
Horm Behav 2020 Nov;126:104867. Epub 2020 Oct 6 doi: 10.1016/j.yhbeh.2020.104867. PMID: 32998030
Natural history and treatment of cutaneous and systemic mastocytosis.
Le M, Miedzybrodzki B, Olynych T, Chapdelaine H, Ben-Shoshan M
Postgrad Med 2017 Nov;129(8):896-901. Epub 2017 Aug 21 doi: 10.1080/00325481.2017.1364124. PMID: 28770635

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