Growth Hormone and Insulin Growth Factor-I insensitivity: Case Report of a Patient With Severe Short Stature

Normal GH secretion and functional integrity of the growth hormone (GH) and insulin growth factor (IGF)-I axis are essential for linear growth. Primary GH deficiency causes short stature and, when treated with recombinant human (rh) GH, normal adult height is generally achieved. Cases of GH insensitivity are treated with rhIGF-I, with more modest increases in height. Several genetic defects have been identified in the GH-IGF-I axis. We present the case of a 5-year-old boy with severe short stature (-4.4SDS) and evidence of primary GH deficiency. Treatment with rhGH was ineffective. Latter, rhIGF-I and androgens were sequentially introduced. Growth velocity peaked during treatment with exogenous androgens, but height SDS was persistently between -4.6 and -5.1. At age 17, his height was 140.3 cm (-4.5SDS). Genetic analysis for GH-IGF axis mutations was negative. We believe this patient presents a yet unrecognised mutation affecting multiple sites of the GH-IGF axis. To our knowledge, there are no previously reported cases with this pattern of growth and irresponsiveness to therapy. doi: http://dx.doi.org/10.4021/jem177w