A case of pycnodysostosis with growth hormone deficiency
Makaleler > Tam Makale · 1996
Yazarlar: Şükran DARCAN, Mete AKISU, BAHA TANELI, GAYE KENDİR
CLINICAL GENETICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 1996, cilt 50, 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.