期刊
HORMONE RESEARCH
卷 72, 期 3, 页码 129-141出版社
KARGER
DOI: 10.1159/000232486
关键词
Acid-labile subunit; Insulin-like growth factor-I; Insulin-like growth factor binding protein; Growth hormone insensitivity; Insulin insensitivity; IGFALS gene mutations
资金
- Agencia Nacional de Promocion Cientifica y Tecnologica [BID 1201/OC-AR PICT-2003, 05-14354]
- Pfizer Global Pharmaceutical
- Growth Foundation, UK
- Novo Nordisk Educational grant
- Novo Nordisk
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life of the IGF-I-IGFBP-3/IGFBP-5 binary complexes. Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, suggesting that ALS deficiency may be prevalent in a subset of patients with extraordinarily low serum levels of IGF-I and IGFBP-3 that remain abnormally low upon growth hormone stimulation. Postnatal growth was clearly affected. Commonly, the height standard deviation score before puberty was between -2 and -3, and approximately 1.4 SD shorter than the midparental height SDS. Pubertal delay was found in 50% of the patients. Circulating IGF-II, IGFBP-1, -2 and -3 levels were reduced, with the greatest reduction observed for IGFBP-3. Insulin insensitivity was a common finding, and some patients presented low bone mineral density. Human ALS deficiency represents a unique condition in which the lack of ALS proteins results in the disruption of the entire IGF circulating system. Despite a profound circulating IGF-I deficiency, there is only a mild impact on postnatal growth. The preserved expression of locally produced IGF-I might be responsible for the preservation of linear growth near normal limits. Copyright (C) 2009 S. Karger AG, Basel
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