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The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action

Authors :
Horacio M. Domené
Sabina Domene
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.

Details

ISSN :
03037207
Volume :
518
Database :
OpenAIRE
Journal :
Molecular and Cellular Endocrinology
Accession number :
edsair.doi.dedup.....ee8f67525a33bddecd146017a2a05b4e