A case of pycnodysostosis with growth hormone deficiency


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

CLINICAL GENETICS, cilt.50, ss.422-425, 1996 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 50 Konu: 5
  • Basım Tarihi: 1996
  • Dergi Adı: CLINICAL GENETICS
  • Sayfa Sayıları: ss.422-425

Özet

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.