PMID- 27147792
OWN - NLM
STAT- MEDLINE
DCOM- 20180509
LR  - 20181113
IS  - 0350-199X (Print)
IS  - 1986-5961 (Electronic)
IS  - 0350-199X (Linking)
VI  - 70
IP  - 2
DP  - 2016 Apr
TI  - Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia.
PG  - 148-50
LID - 10.5455/medarh.2016.70.148-150 [doi]
AB  - BACKGROUND: Achondroplasia is a skeletal dysplasia, the most common cause of 
      rhizomelic dwarfism. CASE PRESENTATION: 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. CONCLUSION: 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.
FAU - Krstevska-Konstantinova, Marina
AU  - Krstevska-Konstantinova M
AD  - University Paediatrics Clinic, Medical Faculty Skopje, Macedonia.
FAU - Stamatova, Ana
AU  - Stamatova A
AD  - University Paediatrics Clinic, Medical Faculty Skopje, Macedonia.
FAU - Gucev, Zoran
AU  - Gucev Z
AD  - University Paediatrics Clinic, Medical Faculty Skopje, Macedonia.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160401
PL  - Bosnia and Herzegovina
TA  - Med Arch
JT  - Medical archives (Sarajevo, Bosnia and Herzegovina)
JID - 101635337
RN  - 0 (Recombinant Proteins)
RN  - 12629-01-5 (Human Growth Hormone)
SB  - IM
MH  - Achondroplasia/*drug therapy/physiopathology
MH  - Age Factors
MH  - Body Height/*drug effects/physiology
MH  - Child
MH  - Dose-Response Relationship, Drug
MH  - Drug Administration Schedule
MH  - Hormone Replacement Therapy
MH  - Human Growth Hormone/*therapeutic use
MH  - Humans
MH  - Male
MH  - Recombinant Proteins/*therapeutic use
MH  - Reference Values
MH  - Treatment Outcome
PMC - PMC4851542
OTO - NOTNLM
OT  - Achondroplasia
OT  - Growth hormone treatment
OT  - skeletal dysplasia
COIS- * Conflict of interest: none declared.
EDAT- 2016/05/06 06:00
MHDA- 2018/05/10 06:00
PMCR- 2016/04/01
CRDT- 2016/05/06 06:00
PHST- 2016/01/25 00:00 [received]
PHST- 2016/03/15 00:00 [accepted]
PHST- 2016/05/06 06:00 [entrez]
PHST- 2016/05/06 06:00 [pubmed]
PHST- 2018/05/10 06:00 [medline]
PHST- 2016/04/01 00:00 [pmc-release]
AID - MA-70-148 [pii]
AID - 10.5455/medarh.2016.70.148-150 [doi]
PST - ppublish
SO  - Med Arch. 2016 Apr;70(2):148-50. doi: 10.5455/medarh.2016.70.148-150. Epub 2016 
      Apr 1.