Mutacje genów zwiÄ zanych z osiÄ : hormon wzrostu (GH) i insulinopodobny czynnik wzrostu I (IGF-1) jako przyczyna zaburzeń wzrastania

Genetic determinations of growth deficits, caused by defects of axis GH-IGF-1, essential for this process, are discussed. In recent years all main genes, determining embryogenesis of hypothalamus, and hypophysis and genes coding proteins of GH-IGF-1 axis were mapped and cloned. Particular phenotypes, caused by mutations of this genes were defined on clinical level. A precise diagnosis of the mutations of these genes may be employed in individual patients. Due to this procedures, percentage of s.c. idiopatic growth deficit is reduced comparing to increased number of diagnoses of the defined genetic syndromes. Precise determination of the genetic causes of growth deficiency is important not only for familial counselling, but also for effective recombinant GH and IGF-1 therapy.