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Abnormal serum insulin-like growth factor 1 level

MedGen UID:
892647
Concept ID:
C4072896
Finding
HPO: HP:0030352

Definition

An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal serum insulin-like growth factor 1 level

Conditions with this feature

Leukocyte adhesion deficiency type II
MedGen UID:
96022
Concept ID:
C0398739
Disease or Syndrome
Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920.

Professional guidelines

PubMed

Guo H, Fu J, Zhou Y, Luo F, Cheng R
BMC Pediatr 2024 Jan 10;24(1):32. doi: 10.1186/s12887-023-04513-0. PMID: 38200464Free PMC Article
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS
Horm Res Paediatr 2023;96(5):483-494. Epub 2023 Mar 28 doi: 10.1159/000530420. PMID: 36977395
Gajewska J, Szamotulska K, Klemarczyk W, Chełchowska M, Strucińska M, Ambroszkiewicz J
Nutrients 2023 Mar 1;15(5) doi: 10.3390/nu15051240. PMID: 36904239Free PMC Article

Recent clinical studies

Etiology

Mourelatos P, Vrettou CS, Diamantopoulos A, Vassiliou AG, Jahaj E, Angelousi A, Pratikaki M, Katsaounou P, Kotanidou A, Vassiliadi DA, Dimopoulou I
Hormones (Athens) 2024 Mar;23(1):59-67. Epub 2023 Nov 24 doi: 10.1007/s42000-023-00511-0. PMID: 37996650
Tritos NA
Best Pract Res Clin Endocrinol Metab 2023 Dec;37(6):101790. Epub 2023 Jun 8 doi: 10.1016/j.beem.2023.101790. PMID: 37328323
Sun Y, Meng C, Yu L
Altern Ther Health Med 2023 Jul;29(5):364-369. PMID: 37171953
Moses AC
Endocr Dev 2005;9:121-134. doi: 10.1159/000085762. PMID: 15879694
Dunger DB, Ong KK, Sandhu MS
Horm Res 2003;60 Suppl 3:131-5. doi: 10.1159/000074514. PMID: 14671410

Diagnosis

Tritos NA
Best Pract Res Clin Endocrinol Metab 2023 Dec;37(6):101790. Epub 2023 Jun 8 doi: 10.1016/j.beem.2023.101790. PMID: 37328323
Sun Y, Meng C, Yu L
Altern Ther Health Med 2023 Jul;29(5):364-369. PMID: 37171953
Brooke AM, Drake WM
Pituitary 2007;10(2):173-9. doi: 10.1007/s11102-007-0036-8. PMID: 17431794
Rosenfeld RG, Buckway C, Selva K, Pratt KL, Guevara-Aguirre J
Horm Res 2004;62 Suppl 1:37-43. doi: 10.1159/000080757. PMID: 15761231
Dunger DB, Ong KK, Sandhu MS
Horm Res 2003;60 Suppl 3:131-5. doi: 10.1159/000074514. PMID: 14671410

Therapy

Tritos NA
Best Pract Res Clin Endocrinol Metab 2023 Dec;37(6):101790. Epub 2023 Jun 8 doi: 10.1016/j.beem.2023.101790. PMID: 37328323
Boguszewski CL
Pituitary 2022 Oct;25(5):760-763. Epub 2022 May 13 doi: 10.1007/s11102-022-01225-z. PMID: 35552989
Aycan Z, Baş VN
J Clin Res Pediatr Endocrinol 2014;6(2):62-7. doi: 10.4274/Jcrpe.1228. PMID: 24932597Free PMC Article
Lakshmi C
Indian J Dermatol Venereol Leprol 2013 May-Jun;79(3):322-37. doi: 10.4103/0378-6323.110765. PMID: 23619437
Moses AC
Endocr Dev 2005;9:121-134. doi: 10.1159/000085762. PMID: 15879694

Prognosis

Sun Y, Meng C, Yu L
Altern Ther Health Med 2023 Jul;29(5):364-369. PMID: 37171953
Kharb S, Bala J, Nanda S
J Obstet Gynaecol 2017 Jul;37(5):610-615. Epub 2017 May 3 doi: 10.1080/01443615.2017.1286463. PMID: 28467127
Gómez JM
Curr Pharm Biotechnol 2006 Apr;7(2):125-32. doi: 10.2174/138920106776597621. PMID: 16724947
Denko CW, Malemud CJ
Semin Arthritis Rheum 2005 Aug;35(1):24-34. doi: 10.1016/j.semarthrit.2005.03.001. PMID: 16084221
Dunger DB, Ong KK, Sandhu MS
Horm Res 2003;60 Suppl 3:131-5. doi: 10.1159/000074514. PMID: 14671410

Clinical prediction guides

Mourelatos P, Vrettou CS, Diamantopoulos A, Vassiliou AG, Jahaj E, Angelousi A, Pratikaki M, Katsaounou P, Kotanidou A, Vassiliadi DA, Dimopoulou I
Hormones (Athens) 2024 Mar;23(1):59-67. Epub 2023 Nov 24 doi: 10.1007/s42000-023-00511-0. PMID: 37996650
Sun Y, Meng C, Yu L
Altern Ther Health Med 2023 Jul;29(5):364-369. PMID: 37171953
Liao ZH, Yin QQ, Wan JX, He W, Ji W, Zhang LY, Li YB
Endocr J 2016 Dec 30;63(12):1081-1086. Epub 2016 Aug 26 doi: 10.1507/endocrj.EJ16-0144. PMID: 27569688
Gómez JM
Curr Pharm Biotechnol 2006 Apr;7(2):125-32. doi: 10.2174/138920106776597621. PMID: 16724947
Dunger DB, Ong KK, Sandhu MS
Horm Res 2003;60 Suppl 3:131-5. doi: 10.1159/000074514. PMID: 14671410

Recent systematic reviews

Zaiem F, Alahdab F, Al Nofal A, Murad MH, Javed A
Endocr Pract 2017 Apr 2;23(4):408-421. Epub 2017 Jan 17 doi: 10.4158/EP161622.OR. PMID: 28095041

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