Abstract
We report a child with Noonan syndrome, referred with severe short stature (height −5.4 SD) and biochemical features of GH resistance. The Noonan syndrome phenotype was confirmed by a clinical geneticist, however analysis of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene showed no mutation. Baseline serum IGF-I, IGF-binding protein 3 (IGFBP-3) and acid-labile subunit (ALS) were low, and in an IGF-I generation test, IGF-I did not increase into the normal range and IGFBP-3 and ALS did not change. These results are consistent with GH resistance. Treatment with human GH (hGH) was given in a dose of 0.05 mg/kg/day and height velocity increased from 5.6 to 10.7 cm/yr during the first year, and 8.9 cm/yr during the second year of therapy. Height standard deviation score has increased by 1.85 after 2 and a half yr of therapy. Serum IGF-I, IGFBP-3 and ALS values increased well into the normal range. This case shows that the potential value of GH therapy must be evaluated in each patient individually and that an excellent response may occur in a child with a PTPN11-negative genotype.
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Walton-Betancourth, S., Martinelli, C.E., Thalange, N.K.S. et al. Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance. J Endocrinol Invest 30, 439–441 (2007). https://doi.org/10.1007/BF03346324
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DOI: https://doi.org/10.1007/BF03346324