title: Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia.
abstract: BACKGROUND
  Achondroplasia is a skeletal dysplasia, the most common cause of rhizomelic dwarfism.
  
  
  METHODS
  This is a ten year old boy who was first diagnosed prenatally. He had a mutation c1138G>A in the gene FGFR3 in a heterozygotic constellation. His IGF1 and IGFBP3 levels were normal. Two stimulation tests for growth hormone were performed with values within the reference range. His psychomotor development was adequate for his age except for speech difficulty. He started with recombinant hGH (r-hGH) at the age of 3.4 years in a dose of 0.06 mg/kg. His mean Height SDS (HtSDS) was -2.2.
  
  
  RESULTS
  The growth increased to 10 cm/year in the first year of therapy (HtSDS -1.1). It decreased during the second year to 4 cm (HtSDS -1.7) and again increased during the third year to 8 cm/year (HtSDS-1.3). In the next years the growth was constant (6.5, 2.3, 3.5 cm / year). He is still growing in the 3(rd) percentile of the growth curve (HtSDS - 1.2) under GH treatment. The body disproportion remained the same.
  
  
  CONCLUSIONS
  The growth response on GH treatment was satisfactory in the first 4 years of treatment, and the boy still continued to grow. The young age at the start of treatment was also of importance. Our other patients with achondroplasia who started treatment older had a poor response to growth hormone.
authors.affiliation: University Paediatrics Clinic, Medical Faculty Skopje, Macedonia.
authors.forename: Marina
authors.initials: M
authors.lastname: Krstevska-Konstantinova
authors.affiliation: University Paediatrics Clinic, Medical Faculty Skopje, Macedonia.
authors.forename: Ana
authors.initials: A
authors.lastname: Stamatova
authors.affiliation: University Paediatrics Clinic, Medical Faculty Skopje, Macedonia.
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gucev
mesh_terms: D000130:Achondroplasia / Q000188:drug therapy* / Q000503:physiopathology; D000367:Age Factors; D001827:Body Height / Q000187:drug effects* / Q000502:physiology; D002648:Child; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D011994:Recombinant Proteins / Q000627:therapeutic use*; D012016:Reference Values; D016896:Treatment Outcome
chemical_list: D011994:Recombinant Proteins; D019382:Human Growth Hormone
keywords: Achondroplasia; Growth hormone treatment; skeletal dysplasia