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Growth Hormone Deficiency - Biochemical Testing for Diagnosis and Treatment Monitoring


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May 2007

Growth hormone deficiency (GHD) occurs due to an inability to make adequate growth hormone or to efficiently respond to growth hormone, which leads to inadequate production of other growth factors including IGF-1(insulin-like growth factor 1) and IGFBP-3 (insulin-like growth factor binding protein 3) and can result in subnormal growth. GHD can occur at any age and may adversely affect body composition, bone density, quality of life, and, most noticeably, growth in pediatric patients. GHD in children results in subnormal growth.

Accurate diagnosis of GHD in pediatric patients is necessary for prompt intervention and identification of other potential pituitary hormone deficiencies that are the major causes of death in GHD patients. Short stature often is the only relevant clinical finding present, and growth rate assessments are a key part of the clinical examination. Neonatal hypoglycemia, prolonged jaundice, microphallus, cranial irradiation, head trauma, central nervous system (CNS) infection, consanguinity, craniofacial midline abnormalities, or an affected family member are some clinical factors associated with GHD.

Determination of IGF-1 and IGFBP-3 levels is the first screening laboratory test for pediatric patients with suspected GHD. Growth hormone stimulation testing (GHST) can be used for confirmation in strong suspected cases of GHD with normal IGF-1 and IGFBP-3 levels.

Mayo Medical Laboratories offers the following tests for diagnosis of GHD:

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