Primary Growth Hormone Insensitivity
It is possible that the main title of the report Primary Growth Hormone Insensitivity is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- primary growth hormone resistance
- Laron syndrome
- primary growth hormone unresponsiveness
- GHI due to GH receptor deficiency
- GHI due to IGF-1 deficiency
- GHI due to IGF-1 resistance
- GHI due to STAT5b deficiency
- primary acid-labile subunit (ALS) deficiency
Primary growth hormone insensitivity (GHI) is a group of extremely rare genetic disorders in which the body is unable to use the growth hormone that it produces. Primary GHI can be caused by mutations in the growth hormone receptor (GHR) gene or mutations in genes involved in the action pathway within the cell after growth hormone binds to its receptor, preventing production of insulin-like growth factor (IGF-1), the substance responsible for the growth effects of growth hormone. Affected children fail to grow normally. Children with GHR deficiency who are treated with IGF-1 before puberty have improved growth, but, unlike children with growth hormone deficiency given growth hormone treatment, they do not have normal growth restored. Treatment for these conditions is only effective while the growing bones are still open, i.e. before the completion of adolescence.
Primary GHI is characterized by short stature and delayed bone age, as well as normal or high levels of circulating growth hormone. Other common symptoms are delayed onset of puberty, prominent forehead, low blood sugar. obesity in adulthood. Except for an extremely rare form of GHI, where the gene for IGF-I is defective, brain development is normal, apparently because IGF-I can be made during fetal life without growth hormone stimulation in the other conditions. Some, but definitely not all, patients with the less rare condition of IGF-I receptor deficiency may have mild intellectual impairment.
Laron, an Israeli researcher, first reported the condition in 1966, based on observations that began in 1958, and have continued to the present. The molecular basis for the syndrome he described, genetic mutation of the GHR in some of the Israeli patients was initially described in 1989, and since then over 40 different mutations of this protein have been identified by many investigators. The other genetic defects in the action pathway of GH after its binding to the GHR and associated with varying effects of IGF-I deficiency have been described in the past 15 years.
Human Growth Foundation
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MUMS National Parent-to-Parent Network
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Genetic and Rare Diseases (GARD) Information Center
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