Primary Insulin-like Growth Factor-1 Deficiency
Primary Insulin-like Growth Factor-1 Deficiency
Primary Insulin-like Growth Factor-1 Deficiency (IGF-1) is a rare genetic disorder that affects both children and adults, though the signs and symptoms vary depending on age. It is an inherited condition caused by an abnormality in the IGF1 gene, which codes for insulin-like growth factor-1 (IGF-1). IGF-1 is a hormone involved in normal childhood growth, development, and healing, as well as adults’ metabolism.
Signs and symptoms of primary IGF-1 deficiency can include a below-normal height, growth failure, low muscle tone, poor feeding, weight loss, and delayed development of motor skills. Other potential health complications include seizures, recurrent infections, diabetes, resistant hypertension, and abnormal liver function.
Diagnosis of primary IGF-1 deficiency involves a physical examination, blood tests, and a genetic test. A blood test can measure IGF-1 levels in the body and a genetic test can determine whether someone has a mutation in the IGF1 gene.
Treatment depends on the individual and may include hormone therapy, diet and nutrition, physical therapy, medications, and/or surgery. Hormone therapy involves taking a hormone replacement medication, which can help with growth delays and the development of motor skills.
Some people with primary IGF-1 deficiency may need additional help from specialists in areas such as endocrinology, neurology, and nutrition. In some cases, counseling or social work services may be helpful.
Living with primary IGF-1 deficiency can be challenging, but there are resources available to help. Organizations such as the Magic Foundation can provide information, support groups, and educational materials about living with primary IGF-1 deficiency. Additionally, your healthcare provider can provide advice and guidance on managing the condition.
Benefits of treatment
- Improvement in growth
- Increased muscle tone
- Better feeding habits
- Improved development of motor skills
- Decreased risk of infections
- Lower risk of diabetes and hypertension
- Improved liver function