title: Noonan's syndrome: abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone.
abstract: Auxological and endocrine data from 6 children (3 male, 3 female) aged 8.5-12.8 years with Noonan's syndrome and the results of treatment with human biosynthetic growth hormone (hGH) are presented. All the children were short (Ht SDS -3.5 to -2.3) and height velocity SDS ranged between -1.76 and +0.03. The maximum plasma growth hormone (GH) response to standard provocation tests ranged from 17 to 52 mU/l, yet, plasma insulin-like growth factor I (IGF-I) concentrations were low or low normal. Overnight GH secretory profiles were normal in all but 2 children who had disordered pulsatility with high trough concentrations. In 5 children who have completed one year of hGH therapy mean height velocity increased from 4.8 to 7.4 cm/year and the height velocity SDS ranged from +0.2 to +3.75. This improvement was associated with an increase in plasma IGF-I in three subjects. These results suggest that a defect of the GH/IGF-I axis may be present in some children with Noonan's syndrome and hGH therapy may have a role in the management of the short stature in these children.
authors.affiliation: Department of Paediatrics, John Radcliffe Hospital, Oxford, U.K.
authors.forename: M L
authors.initials: ML
authors.lastname: Ahmed
authors.forename: A B
authors.initials: AB
authors.lastname: Foot
authors.forename: J A
authors.initials: JA
authors.lastname: Edge
authors.forename: V A
authors.initials: VA
authors.lastname: Lamkin
authors.forename: M O
authors.initials: MO
authors.lastname: Savage
authors.forename: D B
authors.initials: DB
authors.lastname: Dunger
mesh_terms: D000365:Age Determination by Skeleton; D001827:Body Height; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000188:drug therapy / Q000378:metabolism / Q000503:physiopathology; D013006:Growth Hormone / Q000378:metabolism* / Q000627:therapeutic use; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000032:analysis*; D008297:Male; D009634:Noonan Syndrome / Q000188:drug therapy / Q000378:metabolism* / Q000503:physiopathology
chemical_list: D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone