Genetic screening of growth hormone deficiency(GHD) is indicated for patients with early and severe symptoms. GHD patients have been screened for mutations in the GH1 and GHRH gene. Understanding the genetic contributions to GHD opens the possibility for a more reasonable approach to the diagnosis and management of GHD.

• Genetic screening indications:^[1]
  • Early onset of growth failure
  • Positive family history and possible consanguinity
  • Height of 3 standard deviations or more below the mean
  • Extremely low GH response to provocation tests, including GHRH, and very low IGF-I and IGF-binding protein-3 (IGFBP-3) levels

• GHD patients have been screened for mutations in the GH1 and GHRH gene.^[2]

• A recent study recommended testing for GH1 and GHRH mutations in children with severe GHD and a family history of GHD.^[3]
• The patient with the HMGA2 mutation had severe short stature, low IGF-I, abnormal response to GH stimulation testing, and abnormal MRI, and responded well to growth hormone therapy.^[4]
• The importance of the HMGA2 gene in growth has been described through a study of patients with 12q14 microdeletion syndrome, which is characterized by developmental delay, severe short stature, and abnormal facies.^[5]
• Testing for a polymorphism in the IGFBP-3 gene may also aid in the diagnosis of GHD and prediction of response to therapy. ^[6]

• Understanding the genetic basis of GHD opens the possibility for a more advanced approach to the diagnosis and management of GHD.^[7]