[Laron syndrome by loss of functions of growth hormone receptor].
Laron syndrome, characterized by a short stature with raised serum levels of growth hormone but extremely low levels of insulin-like growth factor I, is caused by genetic defects of growth hormone receptor, including loss of functions of growth hormone receptor and abnormal growth hormone receptor acting in a dominant negative manner. This chapter focused on loss of functions of growth hormone receptor causing disruption of growth hormone binding and intracellular signalling. Most mutations and deletions have been found in extracellular domains of growth hormone receptor. Serum levels of growth hormone binding protein, cleaved from the extracellular portion of the growth hormone receptor, are typically decreased in most patients but are normal or high in some patients.
Kaji
Hidesuke
H
Department of Physiology and Biochemistry, College of Nursing Art & Science Hyogo.
D004393:Dwarfism, Pituitary / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011986:Receptors, Somatotropin / Q000235:genetics*
D011986:Receptors, Somatotropin