Growth hormone therapy in hypochondroplasia

Acta Paediatr Suppl. 1999 Feb;88(428):116-7. doi: 10.1111/j.1651-2227.1999.tb14368.x.


Patients with hypochondroplasia present with variable phenotypes. Children with severe short stature and disproportion of the body segments usually have the mutation Asn540Lys. They respond to growth hormone (GH) therapy with an increase in spinal length and, coupled with a surgical leg-lengthening procedure, it is possible for some patients to achieve adult heights within the normal range. Some children who present with proportionate short stature and hypochondroplasia fail to increase their growth rate at puberty, although the growth spurt can be restored by GH therapy. Others, with an identical presentation, seem to grow normally during puberty. At present, there is no way of predicting who will undergo a normal pubertal growth spurt. We therefore monitor all patients during childhood and give GH treatment only to those patients who fail to develop a growth spurt at puberty. Severe cases may occasionally need treatment before puberty if their growth velocity is compromised, but these will probably also be candidates for a surgical leg-lengthening procedure.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Achondroplasia / drug therapy*
  • Achondroplasia / genetics
  • Achondroplasia / physiopathology
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Controlled Clinical Trials as Topic
  • Female
  • Follow-Up Studies
  • Human Growth Hormone / administration & dosage*
  • Humans
  • Male
  • Reference Values
  • Treatment Outcome


  • Human Growth Hormone