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A case of pycnodysostosis with growth hormone deficiency.

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.
AuthorsS Darcan, M Akisü, B Taneli, G Kendir
JournalClinical genetics (Clin Genet) Vol. 50 Issue 5 Pg. 422-5 (Nov 1996) ISSN: 0009-9163 [Print] Denmark
PMID9007336 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Human Growth Hormone
Topics
  • Child
  • Dysostoses (diagnostic imaging, genetics, metabolism, physiopathology)
  • Female
  • Foot Deformities, Congenital (diagnostic imaging)
  • Growth Disorders (diagnostic imaging, genetics, metabolism, physiopathology)
  • Hand Deformities, Congenital (diagnostic imaging)
  • Human Growth Hormone (deficiency)
  • Humans
  • Lumbar Vertebrae (abnormalities)
  • Male
  • Pedigree
  • Radiography
  • Skull (abnormalities, diagnostic imaging)

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