A case of pycnodysostosis with growth hormone deficiency
Küçük Resim Yok
Tarih
1996
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Munksgaard Int Publ Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
bones, dysostoses, growth hormone, pycnodysostosis
Kaynak
Clinical Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
Q1
Cilt
50
Sayı
5
