Short stature due to primary acid-labile subunit deficiency
Short stature due to primary acid-labile subunit deficiency
Definition
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.
Also known as acid-labile subunit, deficiency of — per MONDO