IGF-1 Gene Deletions
What is IGF-1 Gene Deletions?
IGF-1 gene deletions are extremely rare genetic conditions where part or all of the IGF-1 gene is missing. The IGF-1 gene provides instructions for making insulin-like growth factor 1, a protein essential for normal growth and development. When this gene is deleted or missing, the body cannot produce enough IGF-1.
This condition affects growth from birth and throughout childhood. Children with IGF-1 gene deletions experience severe growth failure, meaning they are significantly shorter than expected for their age. The condition also causes developmental delays and hearing loss in most cases.
IGF-1 gene deletions are different from other growth hormone disorders. The body may actually produce high levels of growth hormone, but without enough IGF-1, that growth hormone cannot do its job properly. Blood tests show very low or undetectable IGF-1 levels despite elevated growth hormone.
Symptoms
- Severe short stature from birth
- Significant growth failure in infancy and childhood
- Small head size, known as microcephaly
- Developmental delays in motor skills and cognition
- Intellectual disability ranging from mild to severe
- Hearing loss or deafness
- Delayed bone age
- Low muscle mass and strength
- Feeding difficulties in infancy
Symptoms are typically present from birth or early infancy. Unlike some growth disorders, IGF-1 gene deletions always cause noticeable symptoms early in life.
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Causes and risk factors
IGF-1 gene deletions are caused by missing genetic material on chromosome 12. This genetic change happens randomly during the formation of reproductive cells or early in fetal development. Most cases occur in people with no family history of the condition. The deletion prevents the body from making functional insulin-like growth factor 1 protein.
There are no known lifestyle or environmental risk factors for IGF-1 gene deletions. The condition is not caused by anything parents did or did not do during pregnancy. In rare cases, the deletion can be inherited from a parent who carries the genetic change. Genetic counseling can help families understand their specific situation and recurrence risk.
How it's diagnosed
Diagnosis begins when a child shows severe growth failure and developmental delays. Doctors measure IGF-1 levels through blood tests. Children with IGF-1 gene deletions have very low or undetectable IGF-1 levels. Growth hormone levels are typically normal or even elevated, which helps distinguish this condition from growth hormone deficiency.
Genetic testing confirms the diagnosis by identifying deletions in the IGF-1 gene. Rite Aid offers IGF-1 testing as an add-on to our preventive health panel. This can help monitor IGF-1 levels in children already diagnosed. Additional specialized genetic tests through your pediatric endocrinologist are needed to confirm the gene deletion itself.
Treatment options
- IGF-1 replacement therapy with recombinant IGF-1 medication
- Regular monitoring of growth parameters and bone development
- Hearing aids or cochlear implants for hearing loss
- Early intervention services for developmental delays
- Physical therapy to build muscle strength and coordination
- Occupational therapy to improve daily living skills
- Speech therapy for communication challenges
- Educational support and individualized learning plans
- Regular endocrinology visits to adjust treatment
- Monitoring blood sugar levels during treatment
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- Simple blood draw at your nearest lab
- Results in days, not weeks
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Frequently asked questions
IGF-1 gene deletions are rare genetic conditions where part or all of the IGF-1 gene is missing from chromosome 12. This causes the body to produce very low or no insulin-like growth factor 1. The result is severe growth failure, developmental delays, and hearing loss from birth or early infancy.
IGF-1 gene deletions are extremely rare. Only a small number of cases have been reported worldwide in medical literature. The exact prevalence is unknown because the condition is so uncommon. Most pediatric endocrinologists may never see a case during their career.
In growth hormone deficiency, the body does not make enough growth hormone, which leads to low IGF-1. In IGF-1 gene deletions, growth hormone levels are normal or high, but IGF-1 is very low because the gene to make it is missing. This difference changes how doctors treat each condition.
There is no cure for IGF-1 gene deletions because the genetic deletion cannot be reversed. However, treatment with recombinant IGF-1 medication can help improve growth and development. Early treatment leads to better outcomes for height and motor skills.
IGF-1 is measured through a standard blood draw. The test measures the amount of insulin-like growth factor 1 protein in the blood. In IGF-1 gene deletions, levels are very low or undetectable, typically far below the normal range for age and sex.
Most children with IGF-1 gene deletions remain significantly shorter than their peers even with treatment. IGF-1 replacement therapy can improve growth but usually does not result in normal adult height. Starting treatment early in life gives the best chance for improved growth outcomes.
Most cases occur spontaneously with no family history. The deletion usually happens randomly during cell formation or early development. In rare cases, a parent may carry the deletion and pass it to their child. Genetic counseling can help families understand inheritance patterns and future pregnancy risks.
Recombinant IGF-1 therapy involves daily injections of lab-made insulin-like growth factor 1. This medication replaces the IGF-1 the body cannot make on its own. Treatment must be closely monitored because IGF-1 can affect blood sugar levels and cause other side effects.
It is unlikely for adults to have undiagnosed IGF-1 gene deletions. The condition causes severe growth failure and developmental delays from birth or early childhood. These symptoms are significant enough that they typically prompt medical evaluation during childhood, leading to diagnosis.
Pediatric endocrinologists lead the medical team for this condition. Other specialists may include geneticists, audiologists for hearing loss, developmental pediatricians, and therapists. A coordinated care team helps address the multiple aspects of this complex genetic condition.