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Insulin-like Growth Factor-1 Deficiency

A child’s growth is one of the best indications of overall health.  Health care providers track children’s growth to see that they are developing with a normal growth pattern. Height follows a normal bell distribution curve, and children shorter that the 2.3%ile (<-2 standard deviations, SD) can be described as having short stature.

 There are many reasons that can lead to a child having short stature. Non-hormonal causes include malabsorption, malnutrition, liver disease, kidney disease, chronic illness, or familial short stature. Genetic syndromes can also present with short stature. Hormonal causes include low thyroid hormone (hypothyroidism), constitutional growth and pubertal delay (being a “late bloomer”), or deficiencies in the growth hormone axis (growth hormone deficiency: GHD or insulin-like growth factor-1 deficiency: IGFD).

 Growth hormone is secreted from the pituitary gland and goes to the liver. In the liver, GH stimulates the production of IGF-1. In turn, IGF-1 goes to the growth plates in the bones for growth. Among growth hormone axis deficiencies, GHD is more common than IGFD. GHD is treated with growth hormone replacement therapy. IGFD is treated with IGF-1 replacement therapy.

 The diagnosis of IGFD is based on normal (or even high) GH levels in the presence of short stature and a low IGF-1 level. Primary IGFD is defined as short stature with a height <2.3%ile (<-2 SD) and a low IGF-1 level (<-2 SD). Severe primary IGFD is defined as a height <-3SD with an IGF-1 level <-3SD.

 IGFD can be treated with an FDA-approved therapy: IGF-1 replacement. Like GH, it is given as a subcutaneous injection. Unlike GH, it is given twice daily and with meals to prevent mild associated hypoglycemia or low blood glucose levels.

 For more information or to network with other families of children with IGFD, contact MAGIC.

Contributing Medical Specialist:
Aristides Maniatis, MD, FAAP
Rocky Mountain Pediatric Endocrinology
Centennial, CO
Associate Clinical Professor
University of Colorado Health Sciences Center

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