Background: Achondroplasia is the most common condition characterized by disproportionate short stature. Patients with achondroplasia progressively fall below normal standards for length and height. GH has been widely used to treat short stature with or without GH deficiency (GHD).
Objective and hypotheses: The purpose of the present study was to clarify the effectiveness of GH therapy on short stature in achondroplasia.
Method: The study included six children (four males and two females, age 2 years2 months to 7 years10 months) with achondroplasia. We reviewed height, weight, MRI finding, FGFR3 gene mutation, bone age, IGF1, and growth rate of the patients. GH response to provocation tests with insulin and L-DOPA were evaluated. All six patients were treated with recombinant human GH.
Results: Heights of all patients were under three percentile. Weights were under three percentile in three patients, 310 percentile in one patient, 1025 percentile in one patient, 5075 percentile in one patient. Brain MRI showed narrowing of foramen magnum in three patients, hydrocephalus in two patients and periventricular leukomalacia in one patient. Four patients underwent decompressive suboccipital craniotomy. FGFR3 mutation showed in five patients and one patient was negative. Bone age was from 1 year3 months to 7 years2 months (delayed in four patients). Mean IGF1 level was 50.8 ng/ml and GHD was notified in four patients. The annual height gains after the therapy were 6.8±2.5 cm/year (7.4±0.9 cm/year in patients with GHD and 5.8.±1.5 cm/year in patients without GHD).
Conclusion: Based on our findings, for the management of short stature in children with achondroplasia, response of GH therapy was minimal. Further management for height gain should be considered in achondroplasia patient.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology