IGF1 deficiency
IGF1 Deficiency IGF1 Deficiency, also known as Insulin-like Growth Factor 1 Deficiency, is a rare endocrine disorder characterized by low levels of IGF1, a hormone crucial for growth and development. This condition can lead to various health issues, primarily affecting growth and development in children.
Overview[edit | edit source]
IGF1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. IGF1 deficiency can result from genetic mutations, hormonal imbalances, or other underlying health conditions.
Causes[edit | edit source]
IGF1 deficiency can be caused by several factors:
- Genetic Mutations: Mutations in the IGF1 gene or its receptor can lead to congenital IGF1 deficiency.
- Growth Hormone Deficiency: Since IGF1 production is stimulated by growth hormone, a deficiency in growth hormone can lead to low IGF1 levels.
- Liver Dysfunction: The liver is the primary site of IGF1 production, so liver diseases can impair IGF1 synthesis.
Symptoms[edit | edit source]
The symptoms of IGF1 deficiency can vary depending on the severity of the condition and the age of onset. Common symptoms include:
- Short Stature: Children with IGF1 deficiency often have significantly shorter stature compared to their peers.
- Delayed Puberty: Puberty may be delayed or absent in affected individuals.
- Developmental Delays: Some children may experience delays in motor and cognitive development.
Diagnosis[edit | edit source]
Diagnosing IGF1 deficiency involves several steps:
- Clinical Evaluation: Assessment of growth patterns and developmental milestones.
- Blood Tests: Measuring serum IGF1 levels and growth hormone levels.
- Genetic Testing: Identifying mutations in the IGF1 gene or its receptor.
Treatment[edit | edit source]
Treatment for IGF1 deficiency typically involves hormone replacement therapy:
- Recombinant IGF1 Therapy: Administration of synthetic IGF1 to promote growth and development.
- Growth Hormone Therapy: In cases where growth hormone deficiency is also present.
Prognosis[edit | edit source]
With appropriate treatment, individuals with IGF1 deficiency can achieve improved growth and development. However, early diagnosis and intervention are crucial for optimal outcomes.
Research[edit | edit source]
Ongoing research is focused on understanding the genetic basis of IGF1 deficiency and developing more effective treatments. Studies are also exploring the role of IGF1 in aging and metabolic diseases.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
IGF1 deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
