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.
journal_name
Mol Cell Endocrinoljournal_title
Molecular and cellular endocrinologyauthors
Domené S,Domené HMdoi
10.1016/j.mce.2020.111006subject
Has Abstractpub_date
2020-12-01 00:00:00pages
111006eissn
0303-7207issn
1872-8057pii
S0303-7207(20)30308-7journal_volume
518pub_type
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