Growth hormone deficiency screening
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Growth hormone deficiency Microchapters |
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Differentiating Growth hormone deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Growth hormone deficiency screening On the Web |
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American Roentgen Ray Society Images of Growth hormone deficiency screening |
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Risk calculators and risk factors for Growth hormone deficiency screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Screening
Genetic screening indications:
1) early onset of growth failure
2) positive family history and possible consanguinity,
3) height more than 3 sd below the mean
4) extremely low GH response to provocation tests, including GHRH, and very low IGF-I and IGF-binding protein-3 (IGFBP-3) levels
have recently provided an excellent review of genetic testing in short stature in which they recommend testing for GH1 and GHRHR mutations in children with severe GHD and a family history of GHD (35*).
Alatzoglou et al. recently found mutations in GH1 or GHRHR. (38)
In addition to mutations in GH1 and GHRHR, a heterozygous deletion in the high mobility group A2 (HMGA2) gene, which encodes a transcription factor,
(40*
Lynch et al. recently demonstrated that children with 12q14 microdeletion in which the deletion includes the HMGA2 gene have extreme short stature, whereas children whose deletion ends prior to HMGA2, leaving HMGA2 intact, have only a mild degree of short stature (41).
Mutational analysis of GHSR1A may be a useful tool in the future for children with familial short stature.