Abnormal growth in noonan syndrome: the challenge of optimal therapy.
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.
Savage
Martin O
MO
Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK. m.o.savage@qmul.ac.uk
Padidela
Raja
R
Kirk
Jeremy M W
JM
Malaquias
Alexsandra C
AC
Jorge
Alexander A L
AA
D000328:Adult; D001827:Body Height; D002648:Child; D005260:Female; D005838:Genotype; D006130:Growth Disorders / Q000188:drug therapy* / Q000209:etiology*; D006330:Heart Defects, Congenital / Q000150:complications; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D010641:Phenotype; D018631:ras Proteins / Q000235:genetics
D019382:Human Growth Hormone; D020928:Mitogen-Activated Protein Kinases; D018631:ras Proteins