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Reduced insulin like growth factor binding protein acid labile subunit concentration

MedGen UID:
1390100
•Concept ID:
C4321359
•
Finding
Synonyms: Acid-labile subunit deficiency; Decreased levels of acid labile subunit; Reduced insulin like growth factor binding protein acid labile subunit level
 
HPO: HP:0045046

Definition

An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced insulin like growth factor binding protein acid labile subunit concentration

Conditions with this feature

Short stature due to primary acid-labile subunit deficiency
MedGen UID:
859716
•Concept ID:
C3900122
•
Laboratory or Test Result
Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011).
Short stature due to primary acid-labile subunit deficiency

Professional guidelines

PubMed

Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833

Recent clinical studies

Etiology

The insulin-like growth factor-system in a patient with diffuse large B-cell non-Hodgkin's lymphoma and lactic acidosis.
Hoogwerf D, van Doorn J, Maartense E
Ann Clin Biochem 2013 Mar;50(Pt 2):169-72. Epub 2013 Mar 6 doi: 10.1258/acb.2012.012125. PMID: 23467067
Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833
Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome.
de Boer L, Hoogerbrugge CM, van Doorn J, van Buul-Offers SC, Karperien M, Wit JM
J Pediatr Endocrinol Metab 2004 Apr;17(4):615-27. doi: 10.1515/jpem.2004.17.4.615. PMID: 15198293
Diagnostic interest of acid-labile subunit measurement in relationship to other components of the IGF system in pediatric patients with growth or eating disorders.
Barrios V, Argente J, Muñoz MT, Pozo J, Chowen JA, Hernández M
Eur J Endocrinol 2001 Mar;144(3):245-50. doi: 10.1530/eje.0.1440245. PMID: 11248743
Parenteral amino acid intake alters the anabolic actions of insulin-like growth factor I in rats.
Kee AJ, Baxter RC, Carlsson AR, Smith RC
Am J Physiol 1999 Jul;277(1):E63-72. doi: 10.1152/ajpendo.1999.277.1.E63. PMID: 10409129

Diagnosis

MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.
Schreiner F, Schoenberger S, Koester B, Domené HM, Woelfle J
Horm Res Paediatr 2013;80(6):424-30. Epub 2013 Nov 27 doi: 10.1159/000355927. PMID: 24296365
Measurement of growth hormone, insulin-like growth factor I and their binding proteins: the clinical aspects.
Leung KC, Ho KK
Clin Chim Acta 2001 Nov;313(1-2):119-23. doi: 10.1016/s0009-8981(01)00662-3. PMID: 11694248
Diagnostic interest of acid-labile subunit measurement in relationship to other components of the IGF system in pediatric patients with growth or eating disorders.
Barrios V, Argente J, Muñoz MT, Pozo J, Chowen JA, Hernández M
Eur J Endocrinol 2001 Mar;144(3):245-50. doi: 10.1530/eje.0.1440245. PMID: 11248743
Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life.
Aguiar-Oliveira MH, Gill MS, de A Barretto ES, Alcântara MR, Miraki-Moud F, Menezes CA, Souza AH, Martinelli CE, Pereira FA, Salvatori R, Levine MA, Shalet SM, Camacho-Hubner C, Clayton PE
J Clin Endocrinol Metab 1999 Nov;84(11):4118-26. doi: 10.1210/jcem.84.11.6133. PMID: 10566659

Therapy

Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833
A paradoxical gender dissociation within the growth hormone/insulin-like growth factor I axis during protracted critical illness.
Van den Berghe G, Baxter RC, Weekers F, Wouters P, Bowers CY, Veldhuis JD
J Clin Endocrinol Metab 2000 Jan;85(1):183-92. doi: 10.1210/jcem.85.1.6316. PMID: 10634385
Growth hormone secretagogues in critical illness.
Van den Berghe G
Horm Res 1999;51 Suppl 3:21-8. doi: 10.1159/000053158. PMID: 10592440
Parenteral amino acid intake alters the anabolic actions of insulin-like growth factor I in rats.
Kee AJ, Baxter RC, Carlsson AR, Smith RC
Am J Physiol 1999 Jul;277(1):E63-72. doi: 10.1152/ajpendo.1999.277.1.E63. PMID: 10409129
Pharmacokinetics of recombinant human insulin-like growth factor-I in diabetic rats.
Higaki K, Matsumoto Y, Fujimoto R, Kurosaki Y, Kimura T
Drug Metab Dispos 1997 Nov;25(11):1324-7. PMID: 9351911

Prognosis

The insulin-like growth factor-system in a patient with diffuse large B-cell non-Hodgkin's lymphoma and lactic acidosis.
Hoogwerf D, van Doorn J, Maartense E
Ann Clin Biochem 2013 Mar;50(Pt 2):169-72. Epub 2013 Mar 6 doi: 10.1258/acb.2012.012125. PMID: 23467067
Diagnostic interest of acid-labile subunit measurement in relationship to other components of the IGF system in pediatric patients with growth or eating disorders.
Barrios V, Argente J, Muñoz MT, Pozo J, Chowen JA, Hernández M
Eur J Endocrinol 2001 Mar;144(3):245-50. doi: 10.1530/eje.0.1440245. PMID: 11248743
Growth hormone secretagogues in critical illness.
Van den Berghe G
Horm Res 1999;51 Suppl 3:21-8. doi: 10.1159/000053158. PMID: 10592440

Clinical prediction guides

MECHANISMS IN ENDOCRINOLOGY: The multiple facets of GHRH/GH/IGF-I axis: lessons from lifetime, untreated, isolated GH deficiency due to a GHRH receptor gene mutation.
Aguiar-Oliveira MH, Souza AHO, Oliveira CRP, Campos VC, Oliveira-Neto LA, Salvatori R
Eur J Endocrinol 2017 Aug;177(2):R85-R97. Epub 2017 Apr 20 doi: 10.1530/EJE-16-1047. PMID: 28428227
Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833
Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.
Domené HM, Bengolea SV, Jasper HG, Boisclair YR
J Endocrinol Invest 2005;28(5 Suppl):43-6. PMID: 16114275
Increased insulin-like growth factor (IGF)-II and IGF/IGF-binding protein ratio in prepubertal constitutionally tall children.
Garrone S, Radetti G, Sidoti M, Bozzola M, Minuto F, Barreca A
J Clin Endocrinol Metab 2002 Dec;87(12):5455-60. doi: 10.1210/jc.2002-020614. PMID: 12466336
Increased proteolysis of insulin-like growth factor-binding protein-3 (IGFBP-3) in noninsulin-dependent diabetes mellitus serum, with elevation of a 29-kilodalton (kDa) glycosylated IGFBP-3 fragment contained in the approximately 130- to 150-kDa ternary complex.
Bang P, Brismar K, Rosenfeld RG
J Clin Endocrinol Metab 1994 May;78(5):1119-27. doi: 10.1210/jcem.78.5.7513716. PMID: 7513716

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