A case of pycnodysostosis with growth hormone deficiency


Darcan S. , AKISU M. , TANELI B., KENDİR G.

CLINICAL GENETICS, vol.50, no.5, pp.422-425, 1996 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 5
  • Publication Date: 1996
  • Title of Journal : CLINICAL GENETICS
  • Page Numbers: pp.422-425

Abstract

Pycnodysostosis is a skeletal dysplasia characterized by short stature. Treatment of pycnodysostosis with growth hormone (GH) has not been reported so far. We describe a case of pycnodysostosis with growth hormone deficiency in addition to low mean insulin-like growth factor 1 (IGF-1) concentration. Complete GH deficiency was determined by two pharmacological provocative tests (insulin and L-dopa). A good height velocity response was obtained after GH replacement treatment. Pycnodysostosis with GH deficiency and replacement therapy have not been reported previously, to the best of our knowledge.