OBJECTIVE: To describe in a 5-year-old Caucasian male with mitochondrial cytopathy, a biochemical growth hormone (GH) deficiency associated with normal GH biological activity as evaluated by Nb2 cell bioassay and normal serum IGF-I and IGFBP3 values increasing slightly after GH administration. METHOD: Serum GH concentrations were measured with a commercial immunofluorometric assay and with a biological assay, which uses the Nb2 cell line. Serum IGF-I and IGFBP3 concentrations were measured with RIA. RESULTS: The GH-supplementary therapy was initially effective in terms of growth gain, but no therapeutic benefit was observed over a long period of time. CONCLUSION: In patients suffering from mitochondrial cytopathy, short stature seems to be attributed more to a disease-related inadequate protein substrate than to the non-classical GH deficiency.
OBJECTIVE: To describe in a 5-year-old Caucasian male with mitochondrial cytopathy, a biochemical growth hormone(GH) deficiency associated with normal GH biological activity as evaluated by Nb2 cell bioassay and normal serum IGF-I and IGFBP3 values increasing slightly after GH administration. METHOD: Serum GH concentrations were measured with a commercial immunofluorometric assay and with a biological assay, which uses the Nb2 cell line. Serum IGF-I and IGFBP3 concentrations were measured with RIA. RESULTS: The GH-supplementary therapy was initially effective in terms of growth gain, but no therapeutic benefit was observed over a long period of time. CONCLUSION: In patients suffering from mitochondrial cytopathy, short stature seems to be attributed more to a disease-related inadequate protein substrate than to the non-classical GH deficiency.
Authors: Shana E McCormack; Meaghan A McCarthy; Loredana Farilla; Mirko I Hrovat; David M Systrom; Steven K Grinspoon; Amy Fleischman Journal: J Clin Endocrinol Metab Date: 2011-08-10 Impact factor: 5.958
Authors: Rachel L Boal; Yi Shiau Ng; Sarah J Pickett; Andrew M Schaefer; Catherine Feeney; Alexandra Bright; Robert W Taylor; Doug M Turnbull; Grainne S Gorman; Tim Cheetham; Robert McFarland Journal: J Clin Endocrinol Metab Date: 2019-06-01 Impact factor: 5.958