A CASE OF PYCNODYSOSTOSIS WITH GROWTH-HORMONE DEFICIENCY

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