Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment.
Noonan syndrome (NS) is a phenotypically heterogeneous syndrome which is frequently associated with short stature. Recent genetic investigations have identified mutations in five genes, namely PTPN11, KRAS, SOS1, NF1 and RAF1 in patients with the NS phenotype. PTPN11 is the commonest, being present in approximately 50% of cases. The degree of short stature in children does not associate closely with the presence of mutations, however some PTPN11-positive patients have decreased GH-dependent growth factors consistent with mild GH insensitivity. GH therapy, using doses similar to those approved for Turner syndrome (TS), induced short-term increases in height velocity over 1-3 years, and may improve final adult height with longer-term treatment.
Padidela
Raja
R
Department of Endocrinology, Barts and London School of Medicine and Dentistry, London, UK.
Camacho-Hübner
Cecilia
C
Attie
Kenneth M
KM
Savage
Martin O
MO
D001827:Body Height / Q000187:drug effects / Q000502:physiology; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000502:physiology / Q000627:therapeutic use; D009154:Mutation; D009634:Noonan Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D011994:Recombinant Proteins / Q000627:therapeutic use
D011994:Recombinant Proteins; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I