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The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action
- Source :
- Molecular and Cellular Endocrinology. 518:111006
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- Acid-labile subunit (ALS) deficiency (ACLSD) constitutes the first monogenic defect involving a member of the Insulin-like Growth Factor (IGF) binding protein system. The lack of ALS completely disrupts the circulating IGF system. Autocrine/paracrine action of local produced IGF-I could explain the mild effect on growth. In the present work we have revised the more relevant clinical and biochemical consequences of complete ACLSD in 61 reported subjects from 31 families. Low birth weight and/or length, reduced head circumference, height between -2 and -3 SD, pubertal delay and insulin resistance are commonly observed. Partial ACLSD could be present in children initially labeled as idiopathic short stature, presenting low IGF-I levels, suggesting that one functional IGFALS allele is insufficient to stabilize ternary complexes. Dysfunction of the GH-IGF axis observed in ACLSD may eventually result in increased risk for type-2 diabetes and tumor progression. Consequently, long term surveillance is recommended in these patients.
- Subjects :
- Male
0301 basic medicine
medicine.medical_specialty
medicine.medical_treatment
030209 endocrinology & metabolism
Biochemistry
Short stature
03 medical and health sciences
Paracrine signalling
0302 clinical medicine
Endocrinology
Insulin resistance
Diabetes mellitus
Internal medicine
medicine
Humans
Insulin-Like Growth Factor I
Child
Autocrine signalling
Molecular Biology
Growth Disorders
Glycoproteins
Puberty, Delayed
Human Growth Hormone
business.industry
Growth factor
medicine.disease
Body Height
Idiopathic short stature
Insulin-Like Growth Factor Binding Protein 3
030104 developmental biology
Tumor progression
Female
medicine.symptom
Carrier Proteins
business
Signal Transduction
Subjects
Details
- ISSN :
- 03037207
- Volume :
- 518
- Database :
- OpenAIRE
- Journal :
- Molecular and Cellular Endocrinology
- Accession number :
- edsair.doi.dedup.....ee8f67525a33bddecd146017a2a05b4e