Journal of Clinical Case Reports

Krstevska-Konstantinova M

Publications

• Case Report
  Favourable Growth Hormone Treatment Response in a Young Boy whit Achondroplasia
  Author(s): Krstevska-Konstantinova M, Stamatova A and Gucev ZKrstevska-Konstantinova M, Stamatova A and Gucev Z
  
  Background: Achondroplasia is a skeletal dysplasia, being the most common cause of rhizomelic dwarfism. Case presentation: We present 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 levels and IgFBP3 were normal. Two stimulation tests for growth hormone were performed with normal levels of the hormone. 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. 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 grow.. Read More»
  DOI: 10.4172/2165-7920.1000660

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