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Pharmacogenomics. 2015 Nov;16(17):1965-73. doi: 10.2217/pgs.15.129. Epub 2015 Nov 10.

Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis.

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Pediatric Unit, Maternal & Infant Department, St. Chiara University Hospital of Pisa, Pisa, Italy.
Epidemiology Unit, Department of Experimental Pathology M.B.I.E., University of Pisa, 56126 Pisa PI, Italy.


Hypochondroplasia (HCH) is a genetic skeletal dysplasia, characterized by rhizomelic short height (Ht) with facial dysmorphology and lumbar hyperlordosis. Albeit there are concerns that HCH children may not achieve optimal long-term outcome in response to recombinant human growth hormone (rhGH), anecdotal experiences suggested at least short-term Ht improvement. After thorough search of published studies, meta-analysis of rhGH use in HCH children was performed. In 113 HCH children, rhGH administration (median 0.25 mg/kg/week) progressively improved Ht pattern with 12 months catch-up growth (p < 0.0001). Then, Ht improvement resulted constant until 36 months (p < 0.0001), but stature remained subnormal. While bone age chronologically progressed, no serious adverse events were reported. In conclusion, our meta-analysis indicates that rhGH treatment progressively improved Ht outcome of HCH subjects.


IGF-1; growth hormone therapy; height outcome; hypochondroplasia; meta-analysis; skeletal dysplasia

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