Document Detail


Abnormal growth in noonan syndrome: the challenge of optimal therapy.
MedLine Citation:
PMID:  19550387     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Noonan syndrome (NS) is a phenotypically heterogeneous condition frequently associated with short stature. Genetic investigations have identified mutations in several genes, e.g. PTPN11, KRAS, RAF and SOS1 in patients with the NS phenotype and related disorders such as LEOPARD, Costello and Cardiofacio- cutaneous syndromes. In NS, PTPN11 mutations are present in 29-60% of cases. The degree of short stature does not associate closely with the presence of a mutation; however, some PTPN11-positive patients have decreased growth hormone (GH)-dependent growth factors consistent with mild GH insensitivity. GH therapy induces short-term increases in height velocity over 1-3 years, and is likely to improve adult height.
Authors:
Martin O Savage; Raja Padidela; Jeremy M W Kirk; Alexsandra C Malaquias; Alexander A L Jorge
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Pediatric endocrinology reviews : PER     Volume:  6 Suppl 4     ISSN:  1565-4753     ISO Abbreviation:  Pediatr Endocrinol Rev     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-06-24     Completed Date:  2009-08-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101202124     Medline TA:  Pediatr Endocrinol Rev     Country:  Israel    
Other Details:
Languages:  eng     Pagination:  523-8     Citation Subset:  IM    
Affiliation:
Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK. m.o.savage@qmul.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Adult
Body Height
Child
Female
Genotype
Growth Disorders / drug therapy*,  etiology*
Heart Defects, Congenital / complications
Human Growth Hormone / therapeutic use*
Humans
Male
Mitogen-Activated Protein Kinases / genetics
Mutation
Noonan Syndrome / complications*,  drug therapy*,  genetics
Phenotype
ras Proteins / genetics
Chemical
Reg. No./Substance:
12629-01-5/Human Growth Hormone; EC 2.7.11.24/Mitogen-Activated Protein Kinases; EC 3.6.5.2/ras Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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