Abstract
The objective of this study was to evaluate the gain in final height of achondroplasia (ACH) patients with long-term growth hormone (GH) treatment. We analyzed medical data of 22 adult patients (8 males and 14 females) treated with GH at a dose of 0.05 mg/kg/day. Optionally, tibial lengthening (TL) was performed with the Ilizalov method in 15 patients and TL as well as femoral lengthening (FL) in 6 patients. Concomitant gonadal suppression therapy with buserelin acetate was applied in 13 patients. The mean treatment periods with GH were 10.7 ± 4.0 and 9.3 ± 2.5 years for males and females, respectively. GH treatment augmented the final height +0.60 ± 0.52 SD (+3.5 cm) and +0.51 ± 1.29 SD (+2.8 cm) in males and females compared to non-treated ACH patients, respectively. Final height of ACH patients that underwent GH and TL increased +1.72 ± 0.72 SD (+10.0 cm) and +1.95 ± 1.34 SD (+9.8 cm) in males and females, respectively. GH, TL, and FL increased their final height +2.97 SD (+17.2 cm) and +3.41 ± 1.63 SD (+17.3 cm) in males and females, respectively. Gonadal suppression therapy had no impact on final height.Conclusions: Long-term GH treatment contributes to 2.6 and 2.1% of final adult height in male and female ACH patients, respectively.
Highlights
Achondroplasia (ACH, MIM no. 100800) is the most common form of congenital rhizomelic dwarfism characterized by severe and disproportionate short stature, macrocephaly with a prominent forehead, midface hypoplasia, and trident hands
Long-term growth hormone (GH) treatment increased the final height of ACH patients +0.60 ± 0.52 standard deviation (SD) (+3.5 cm) and +0.51 ± 1.29 SD (+2.8 cm) for males and females, respectively
While individual studies suggest that tibial lengthening (TL), femoral lengthening (FL), and combined TL and FL add 4.0–10.5, 3.0–13.0, and 9.0– 24.0 cm, respectively, to bone length or standing height of patients with ACH [4,5,6,7], a recent systematic review shows that the overall height gain in ACH/hypochondroplasia patients is 6–12 cm [8]
Summary
Achondroplasia (ACH, MIM no. 100800) is the most common form of congenital rhizomelic dwarfism characterized by severe and disproportionate short stature, macrocephaly with a prominent forehead, midface hypoplasia, and trident hands. The final height may be as short as 118–145 cm for males and 112–136 cm for females in Caucasian patients [1]. In Japanese patients, the average final height without treatment has been reported as 130.4 cm for males (−7.0 standard deviations [SD] compared with normal Japanese children) and 124.0 cm (−6.4 SD) for females [2]. Short-term growth hormone (GH) treatment has been shown to be effective for accelerating height velocity and improving height SD score in ACH patients [9,10,11,12]. Nearly 20 years have passed since its approval, there have been no reports on the long-term effects of GH treatment in patients with ACH. In recent years, height-targeting novel therapies for ACH have been proposed
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 call
