Journal
PHARMACOGENOMICS
Volume 14, Issue 6, Pages 607-612Publisher
FUTURE MEDICINE LTD
DOI: 10.2217/PGS.13.44
Keywords
growth hormone therapy; Leri-Weill dyschondrosteosis; SHOX deficiency; SHOX gene
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Background: Patients with mutations or deletions of the SHOX gene present variable growth impairment, with or without mesomelic skeletal dysplasia. If untreated, short patients with SHOX haplodeficiency (SHOXD) remain short into adulthood. Although recombinant human growth hormone (rhGH) treatment improves short-term linear growth, there are episodic data on the final height of treated SHOXD subjects. Patients & methods: After a thorough search of the published literature for pertinent studies, we undertook a meta-analysis evaluation of the efficacy and safety of rhGH treatment in SHOXD patients. Results: In SHOXD patients, administration of rhGH progressively improved the height deficit from baseline to 24 months, although the major catch-up growth was detected after 12 months. The rhGH-induced growth appeared constant until final height. Conclusion: Our meta-analysis suggested rhGH therapy improves height outcome of SHOXD patients, though future studies using carefully titrated rhGH protocols are needed.
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