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Adrenal gland agenesis

MedGen UID:
472999
Concept ID:
C0266273
Congenital Abnormality; Finding
Synonyms: Adrenal aplasia; ADRENAL APLASIA
SNOMED CT: Congenital absence of adrenal gland (83190008); Aplasia of adrenal gland (702615004); Adrenal aplasia (702615004)
 
HPO: HP:0011743
OMIM®: 240200

Definition

Absent development of the adrenal gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdrenal gland agenesis

Conditions with this feature

SERKAL syndrome
MedGen UID:
394528
Concept ID:
C2678492
Disease or Syndrome
Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.
Tetraamelia syndrome 1
MedGen UID:
860705
Concept ID:
C4012268
Disease or Syndrome
Tetraamelia syndrome-1 (TETAMS1) is characterized by complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects (Niemann et al., 2004). Genetic Heterogeneity of tetraamelia syndrome Tetraamelia syndrome-2 (TETAMS2; 618021) is caused by mutation in the RSPO2 gene (610575) on chromosome 8q23.

Professional guidelines

PubMed

Turner JM, Dmitriev M
Med Clin North Am 2023 Jul;107(4):739-747. Epub 2023 Apr 18 doi: 10.1016/j.mcna.2023.03.010. PMID: 37258011
Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985
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

Recent clinical studies

Etiology

Yip L, Duh QY, Wachtel H, Jimenez C, Sturgeon C, Lee C, Velázquez-Fernández D, Berber E, Hammer GD, Bancos I, Lee JA, Marko J, Morris-Wiseman LF, Hughes MS, Livhits MJ, Han MA, Smith PW, Wilhelm S, Asa SL, Fahey TJ 3rd, McKenzie TJ, Strong VE, Perrier ND
JAMA Surg 2022 Oct 1;157(10):870-877. doi: 10.1001/jamasurg.2022.3544. PMID: 35976622Free PMC Article
Bancos I, Prete A
J Clin Endocrinol Metab 2021 Oct 21;106(11):3331-3353. doi: 10.1210/clinem/dgab512. PMID: 34260734Free PMC Article
Cormier C
Joint Bone Spine 2019 Jul;86(4):459-466. Epub 2018 Oct 6 doi: 10.1016/j.jbspin.2018.10.001. PMID: 30300686
Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ
Nat Rev Dis Primers 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. PMID: 28230061
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

Diagnosis

Bancos I, Prete A
J Clin Endocrinol Metab 2021 Oct 21;106(11):3331-3353. doi: 10.1210/clinem/dgab512. PMID: 34260734Free PMC Article
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
Petramala L, Concistrè A, Olmati F, Saracino V, Chimenti C, Frustaci A, Russo MA, Letizia C
Int J Mol Sci 2020 Jul 17;21(14) doi: 10.3390/ijms21145047. PMID: 32709015Free PMC Article
Peramunage D, Nikravan S
Anesthesiol Clin 2020 Mar;38(1):149-163. Epub 2020 Jan 2 doi: 10.1016/j.anclin.2019.10.006. PMID: 32008649
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

Therapy

Merke DP, Auchus RJ
N Engl J Med 2020 Sep 24;383(13):1248-1261. doi: 10.1056/NEJMra1909786. PMID: 32966723
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
Ascoli P, Cavagnini F
Pituitary 2006;9(4):335-42. doi: 10.1007/s11102-006-0416-5. PMID: 17077946
Mishell DR Jr
Am J Dis Child 1978 Sep;132(9):912-20. doi: 10.1001/archpedi.1978.02120340088019. PMID: 356591
Case AL, Zuspan FP
Surg Clin North Am 1969 Feb;49(1):121-36. doi: 10.1016/s0039-6109(16)38741-2. PMID: 4893129

Prognosis

Glazova O, Bastrich A, Deviatkin A, Onyanov N, Kaziakhmedova S, Shevkova L, Sakr N, Petrova D, Vorontsova MV, Volchkov P
Int J Mol Sci 2023 Mar 10;24(6) doi: 10.3390/ijms24065365. PMID: 36982440Free PMC Article
Bancos I, Prete A
J Clin Endocrinol Metab 2021 Oct 21;106(11):3331-3353. doi: 10.1210/clinem/dgab512. PMID: 34260734Free PMC Article
Bhattacharya S, Krishnamurthy A, Gopalakrishnan M, Kalra S, Kantroo V, Aggarwal S, Surana V
Am J Trop Med Hyg 2020 Oct;103(4):1388-1396. doi: 10.4269/ajtmh.20-0161. PMID: 32602439Free PMC Article
Cormier C
Joint Bone Spine 2019 Jul;86(4):459-466. Epub 2018 Oct 6 doi: 10.1016/j.jbspin.2018.10.001. PMID: 30300686
Turchini J, Cheung VKY, Tischler AS, De Krijger RR, Gill AJ
Histopathology 2018 Jan;72(1):97-105. doi: 10.1111/his.13402. PMID: 29239044

Clinical prediction guides

Petramala L, Concistrè A, Olmati F, Saracino V, Chimenti C, Frustaci A, Russo MA, Letizia C
Int J Mol Sci 2020 Jul 17;21(14) doi: 10.3390/ijms21145047. PMID: 32709015Free PMC Article
Bhattacharya S, Krishnamurthy A, Gopalakrishnan M, Kalra S, Kantroo V, Aggarwal S, Surana V
Am J Trop Med Hyg 2020 Oct;103(4):1388-1396. doi: 10.4269/ajtmh.20-0161. PMID: 32602439Free PMC Article
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
Turchini J, Cheung VKY, Tischler AS, De Krijger RR, Gill AJ
Histopathology 2018 Jan;72(1):97-105. doi: 10.1111/his.13402. PMID: 29239044
Gao Y, Ibidapo O, Toth HK, Moy L
Radiographics 2017 Jan-Feb;37(1):10-31. doi: 10.1148/rg.2017160051. PMID: 28076009

Recent systematic reviews

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
Khalifeh N, Omary A, Cotter DL, Kim MS, Geffner ME, Herting MM
J Child Neurol 2022 Aug;37(8-9):758-783. Epub 2022 Jun 23 doi: 10.1177/08830738221100886. PMID: 35746874Free PMC Article
Harnoss JM, Harnoss JC, Diener MK, Contin P, Ulrich AB, Büchler MW, Schmitz-Winnenthal FH
Pancreas 2014 Oct;43(7):981-6. doi: 10.1097/MPA.0000000000000186. PMID: 25207658Free PMC Article
Borges S, Gayer-Anderson C, Mondelli V
Psychoneuroendocrinology 2013 May;38(5):603-11. Epub 2013 Jan 28 doi: 10.1016/j.psyneuen.2012.12.025. PMID: 23369532
Tabarin A, Bardet S, Bertherat J, Dupas B, Chabre O, Hamoir E, Laurent F, Tenenbaum F, Cazalda M, Lefebvre H, Valli N, Rohmer V; French Society of Endocrinology Consensus
Ann Endocrinol (Paris) 2008 Dec;69(6):487-500. Epub 2008 Nov 20 doi: 10.1016/j.ando.2008.09.003. PMID: 19022420

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