Article
Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration.
Hormone research in paediatrics - 1 Jan 2014
Grandone Anna, Miraglia del Giudice Emanuele, Cirillo Grazia, Abbondanza Ciro, Cioffi Michele, Romano Tiziana, Micillo Flora, Marzuillo Pierluigi, Perrone Laura
Abstract excerpt
BACKGROUND: Homozygous mutations in acid-labile subunit (IGFALS) gene result in short stature, very low circulating levels of acid-labile subunit (ALS), insulin growth factor 1 (IGF1) and insulin growth factor binding protein 3 (IGFBP3) and a poor response to growth hormone (GH). The impact of IGFALS mutations heterozygosity on growth is unknown. PATIENT AND METHODS: We describe a 10-year-old girl with severe...
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