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Published on: June 12, 2020
Evaluation of growth disorders in the paediatric clinic
1Department of Paediatric Medicine, Unit of Paediatry and Adolescence, Paediatric Hospital Bambin Gesù, IRCCS, Palidoro, Rome, Italy. cappa@opbg.net
Insights
Diagnosing growth hormone deficiency (GHD) in children requires careful evaluation of growth patterns and specialized tests. This review examines the sensitivity and specificity of tests to improve the diagnosis of GHD in pediatric patients.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Childhood growth is a key indicator of well-being, influenced by genetic and environmental factors.
- The gold standard for diagnosing growth hormone deficiency (GHD) in children remains undefined.
- Accurate assessment of growth parameters is crucial for identifying potential GHD.
Purpose of the Study:
- To review the sensitivity and specificity of commonly used tests for GH secretion and neuroimaging in diagnosing GHD.
- To provide guidance on investigating children with growth failure for abnormalities in the GH-IGF-I axis.
- To evaluate the diagnostic utility of various tests, including IGF-I, stimulation tests, genetic tests, and neuroimaging.
Main Methods:
- Plotting height, weight, head circumference, and growth velocity on growth charts.
- Excluding chronic non-endocrine diseases.
- Investigating children meeting specific criteria for height and growth velocity with GH-IGF-I axis abnormalities.
- Utilizing IGF-I determination, stimulation tests, neuroimaging (MRI), and genetic tests.
Main Results:
- A single IGF-I determination is valuable for severe GHD or GH insensitivity.
- Provocative stimulation tests have limitations, including poor reproducibility and false-positive results.
- Abnormal MRI findings in children with growth failure strongly suggest GHD, identifiable via IGF-I or GH testing.
- Patients with subnormal GH responses but normal IGF-I and MRI require follow-up before a definitive GHD diagnosis.
Conclusions:
- Accurate growth assessment and exclusion of other conditions are initial steps in GHD diagnosis.
- IGF-I levels, stimulation tests, neuroimaging, and genetic testing play roles in confirming GHD etiology.
- Careful interpretation of test results, especially stimulation tests and MRI, is necessary for accurate diagnosis and management of GHD.
Abstract:
Growth is one of the most important indicators of child's well-being. The growth pattern is the result of the complex interaction between genetic and environment factors. The gold standard for the diagnosis of GH-deficient (GHD) children is not yet defined. In this review we focused on sensitivity and specificity of the commonly used test for GH secretion and neuroimaging evaluation. Initially, accurate determinations of height, weight, head circumferences and growth velocity should be performed and plotted on an appropriate growth chart. Once chronic non-endocrine diseases such as celiac disease, chronic inflammatory bowel diseases, liver disorders and renal failure have been excluded, children whose height is lower than the 2nd percentile or 2 SD below the mean associated with a decreased height velocity (less than 25th percentile), or height less than -2.4 SD alone, or height velocity less than 10th percentile alone, should be investigated for possible abnormalities in the GH-IGF-I axis. A single IGF-I determination will be the great diagnostic value in all patients with severe GHD or GH insensitivity. Stimulation tests and imaging studies will confirm the etiology. One of the major problems of the provocative tests lies in their poor reproducibility and in the great number of falsely abnormal responses observed also in normal children. Genetic tests are also indicated in all cases of genetic forms. Patients with growth failure and abnormal MRI findings have a very high probability of having GHD and can be identified easily by serum IGF-I or by GH testing. All patients with subnormal GH responses to pharmacological stimulation either with normal or low IGF-I concentration but normal MRI findings should be followed up before a diagnosis of GHD is firmly established.
