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Short stature due to primary acid-labile subunit (ALS) deficiency is characterised by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinaemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.
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Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.
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