Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.
Leri-Weill syndrome (LWS) is a skeletal dysplasia with mesomelic short stature, bilateral Madelung deformity (BMD) and SHOX (short stature homeobox-containing gene) haploinsufficiency. The effect of 24 months of recombinant human growth hormone (rhGH) therapy on the stature and BMD of two females with SHOX haploinsufficiency (demonstrated by fluorescence in situ hybridisation) and LWS was evaluated. Both patients demonstrated an increase in height standard deviation score (SDS) and height velocity SDS over the 24 months of therapy. Patient 1 demonstrated a relative increase in arm-span and upper segment measurements with rhGH while patient 2 demonstrated a relative increase in lower limb length. There was appropriate advancement of bone age, no adverse events and no significant deterioration in BMD. In this study, 24 months of rhGH was a safe and effective therapy for the disproportionate short stature of SHOX haploinsufficiency, with no clinical deterioration of BMD.
D000293:Adolescent; D001132:Arm / Q000033:anatomy & histology / Q000254:growth & development; D001827:Body Height / Q000187:drug effects* / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy* / Q000235:genetics*; D013006:Growth Hormone / Q000627:therapeutic use*; D006225:Hand / Q000000981:diagnostic imaging; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007866:Leg / Q000033:anatomy & histology / Q000254:growth & development; D008297:Male; D010641:Phenotype; D011859:Radiography; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D013006:Growth Hormone