A Pilot Study of Discontinuous, Insulin-Like Growth Factor 1-Dosing Growth Hormone Treatment in Young Children with FGFR3 N540K-Mutated Hypochondroplasia

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• 作者：Anya Rothenbuhler ; MD ; Agnè ; s Linglart ; MD ; PhD ; Catherine Piquard ; MD ; Pierre Bougnè ; res ; MD ; PhD ; ^{pierre.bougneres@inserm.fr}
• 关键词：GH ; Growth hormone ; IGF-1 ; Insulin-like growth factor 1 ; L4/L1 ; Ratio of interpedicular distances at the fourth and first lumbar vertebrae ; rGH ; Recombinant growth hormone ; SHR ; Sitting height-to-height ratio
• 刊名：The Journal of Pediatrics
• 出版年：2012
• 出版时间：May, 2012
• 年：2012
• 卷：160
• 期：5
• 页码：849-853
• 全文大小：129 K

文摘

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Objective

To assess the growth promoting effect of a recombinant growth hormone (rGH) treatment protocol adjusted on insulin-like growth factor 1 (IGF-1) dosing in children affected by the most severe forms of FGFR3 N540K-mutated hypochondroplasia.

Study design

Midterm results of an open-label, single-center, nonrandomized, 2003-2020 pilot trial to final stature, including 6 children (mean age, 2.6 ¡À 0.7 years; mean height SDS, ?3.0 ¡À 0.5) with the N540K mutation of FGFR3 gene who received an rGH dosage titrated to an IGF-1 level close to 1.5 SDS of the normal range. rGH therapy was interrupted 1 day per week, 1 month per year, and 6 months every 2 years.

Results

The mean height SDS increased by 1.9 during the 6.1 ¡À 0.9-year study period, reaching ?0.8 to ?1.3 at?age 8.7 ¡À 1 years. The mean ¡À SDS baseline IGF-1 value was ?1.6 ¡À 0.5 before rGH treatment and 1.4 ¡À 0.3 during the last year of observation. The average cumulative rGH dose was 0.075 ¡À 0.018 mg/kg/day (range, 0.059-0.100 mg/kg/day). Trunk/leg disproportion was improved.

Conclusion

IGF-1-dosing rGH treatment durably improves growth and reduces body disproportion in children with severe forms of hypochondroplasia.