title: A case of pycnodysostosis with growth hormone deficiency.
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.
authors.affiliation: Department of Pediatrics, Ege University, Faculty of Medicine, Izmir, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Darcan
authors.forename: M
authors.initials: M
authors.lastname: Akisü
authors.forename: B
authors.initials: B
authors.lastname: Taneli
authors.forename: G
authors.initials: G
authors.lastname: Kendir
mesh_terms: D002648:Child; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008159:Lumbar Vertebrae / Q000002:abnormalities; D008297:Male; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: D019382:Human Growth Hormone