title: The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment.
abstract: Short stature is one of the major features of Noonan's syndrome (NS). In a multicentre trial of growth hormone (GH) therapy in 25 children with NS, we observed a large inter-individual variation in first-year response to GH treatment. This suggested that subgroups might exist in NS that differ in either endogenous GH status or responsiveness to GH therapy. We therefore related growth, GH secretion and 2 years response to GH treatment to subtypes of phenotypic expression of NS. Twelve patients were moderately affected and 13 had a severe clinical phenotype of NS. The variability in phenotype did not correlate with significant differences in intra-uterine growth, infancy growth or childhood growth, and response to GH treatment. However, the variability in phenotype severity did account for striking differences in endogenous GH secretion.
authors.affiliation: Department of Paediatric Endocrinology, University Medical Centre St. Radboud, Nijmegen, The Netherlands. c.noordam@ckskg.azn.nl
authors.forename: Kees
authors.initials: K
authors.lastname: Noordam
authors.forename: Ineke
authors.initials: I
authors.lastname: van der Burgt
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Barto J
authors.initials: BJ
authors.lastname: Otten
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006128:Growth; D019382:Human Growth Hormone / Q000378:metabolism* / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000188:drug therapy* / Q000503:physiopathology*; D010641:Phenotype; D016896:Treatment Outcome
chemical_list: D019382:Human Growth Hormone