A case of pycnodysostosis with growth hormone deficiency
dc.contributor.author | Darcan, S | |
dc.contributor.author | Akisu, M | |
dc.contributor.author | Taneli, B | |
dc.contributor.author | Kendir, G | |
dc.date.accessioned | 2019-10-27T11:54:54Z | |
dc.date.available | 2019-10-27T11:54:54Z | |
dc.date.issued | 1996 | |
dc.department | Ege Üniversitesi | en_US |
dc.description.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. | en_US |
dc.identifier.endpage | 425 | en_US |
dc.identifier.issn | 0009-9163 | |
dc.identifier.issue | 5 | en_US |
dc.identifier.pmid | 9007336 | en_US |
dc.identifier.scopusquality | Q1 | en_US |
dc.identifier.startpage | 422 | en_US |
dc.identifier.uri | https://hdl.handle.net/11454/35079 | |
dc.identifier.volume | 50 | en_US |
dc.identifier.wos | WOS:A1996VZ93500026 | en_US |
dc.identifier.wosquality | N/A | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.publisher | Munksgaard Int Publ Ltd | en_US |
dc.relation.ispartof | Clinical Genetics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | bones | en_US |
dc.subject | dysostoses | en_US |
dc.subject | growth hormone | en_US |
dc.subject | pycnodysostosis | en_US |
dc.title | A case of pycnodysostosis with growth hormone deficiency | en_US |
dc.type | Article | en_US |