Abstract
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. J Endocrinol Metab. 2013;3(3):73-77 doi: https://doi.org/10.4021/jem177w
Highlights
Normal growth hormone (GH) secretion and the functional integrity of the insulin-like growth factor (IGF) system are essential for normal linear growth [1]
Normal GH secretion and functional integrity of the growth hormone (GH) and insulin growth factor (IGF)-I axis are essential for linear growth
We present the case of a 5-year-old boy with severe short stature (-4.4SDS) and evidence of primary GH deficiency
Summary
Normal growth hormone (GH) secretion and the functional integrity of the insulin-like growth factor (IGF) system are essential for normal linear growth [1]. Patients usually respond to treatment with IGF-I, but the growth response is substantially less than that of a GH-deficient patient treated with rhGH. A 5.4-year-old male patient was referred to the Paediatric Endocrinology Unit because of severe short stature (height 89.5 cm, < 3rd centile, -4.4 SDS). His weight was proportionately low (11.5 kg, -5.1 SDS). Treatment with rhGH (0.025 mg/ kg/day) was started when the patient was 6 years old, after approval by the National Committee for the Normalization of Growth Hormone. Testosterone levels were successfully kept within the normal range for age With this combined triple medication, the patient grew 7.1 cm in the following year. Genetic testing (GHR, STAT5B, IGF-1, IGFALS, IGF1R, GH1) did not identify genetic abnormalities affecting the GH-IGF axis
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
