IGF1 Deficiency

A child’s growth is one of the best indications of good health.  Physicians frequently track a child’s growth to see that he or she is developing with a normal growth pattern.  The normal growth curve falls between the 3rd and the 97th percentile of all children.  However, children who are shorter than 97.5 percent of their peers of the same age and sex can be described as having short stature.

There are many reasons that can lead to a child having short stature, including poor nutrition, family history and constitutional growth delay, where growth is experienced later than his or her peers.  Underlying medical conditions such as chromosomal defects, kidney, lung, heart or gastrointestinal disease can also cause growth failure. These short stature children may also have low levels of hormones that are associated with normal growth.  For example, having low levels of pituitary growth hormone causes growth failure.  This hormonal deficiency in growth hormone can lead to low levels of insulin-like growth factor-1, or IGF-1, a hormone made primarily in the liver that determines much of the growth-promoting effects of growth hormone.

Some children, however, experience poor growth despite possessing normal or even higher amounts of growth hormone. Because the underlying cause of this short stature is not understood, such children are sometimes given a diagnosis of idiopathic short stature or ISS.  However, some ISS children have been found to have low levels of IGF-1 despite having normal to high growth hormone.  These children are now described as having a newly identified endocrine condition called Primary Insulin-like Growth Factor Deficiency, or Primary IGFD, a term that describes lower levels of IGF-1, that directly explains the poor growth.

Diagnosis

Diagnosis of Primary Insulin-like Growth Factor Deficiency (IGFD) is made by identifying a growth or short stature problem by ruling out other underlying diseases or causes of poor growth and eliminating the possibility of growth hormone deficiency while measuring low levels of IGF-1 in the blood.  When all of these conditions are met, a doctor may diagnose the condition as Primary Insulin-like Growth Factor Deficiency.   Primary IGFD may be divided into moderate and severe forms based on how low the IGF-1 levels are relative to other children of the same age as well as the degree of short stature. 

Treatment

Primary IGFD/ Insulin-like Growth Factor Deficiency can now be treated with hormone products approved by the Food and Drug Administration which have proven effective in this new diagnosis, safely leading to improvements in children’s growth and in adult stature.  Doctors can perform additional tests including treatment trials to determine which treatment is best for any particular child.

Additional Information

Michelle’s Story

Michelle was born December 18, 2000.  She was a healthy 7lbs 8oz and 19 inches long, the perfect 50th percentile.  Immediately though her percentiles started to drop and have never stopped.  Her first year was filled with worry about why she was not growing.

We affectionately referred to Michelle as out little magic trick because everywhere we went she would amaze people.  Michelle was a very early talker and quite articulate.  She looked like she was 6 months old and was talking like she was 3.  People would get such a kick out of her. 

At 14 months there was no denying there was a real problem.  Finding the answer though took us 4 years, countless tests and 2 different endocrinologists!

Michelle was tested for Cystic Fibrosis, Turners Syndrome, Kidney disease, and numerous other disorders which all came up negative.  She had been off the growth chart for over a year and a half when her first Endocrinologist suggested we do a growth hormone stimulation test.  Everyone was shocked when it came back saying Michelle produced an elevated level of growth hormone.  While a negative result is always a good thing in this case it was devastating for us.  We wanted to help her grow so badly but we had to know what was wrong first.  Our endo basically said there was nothing more she could do.  That is when we found Dr. Brown.  He did the stimulation test again and found the same thing, elevated growth hormone levels.  He then mentioned a diagnosis that was just becoming recognized as a disorder by itself.  It was called IGF-1 deficiency.  A light went on immediately.  We had known since she was 14 months old that she had extremely low levels of IGF-1 but until now that was not considered a treatable disorder.

Finally a name for the problem we had been dealing with; it was very freeing!  We then had to talk about treatments.  The FDA had just approved a medicine for IGF-1 deficient children.  Like growth hormone it is given through injections.  It was very scary to think about putting our daughter on something that we have little long-term information on.  We weighed the benefits and risks for months.  Our decision came down to quality of life.  No one has died from being short but their quality of life can suffer.  We did not know what the futures holds.  However we did know  that we wanted to give our daughter every possible advantage we could.  That to us is worth the little risk any treatment might involve.

Michelle started on IGF therapy in November of 2006.  Unfortunately she had a bad reaction and had to be taken off after just a few weeks.   She is now on Increlex.  She gets a shot in the morning and a shot in the evening.  We have to monitor her blood sugar throughout the day.  It has made her hypoglycemic once but they altered her dose and she seems to be doing better.   We are very hopeful that this will finally help her catch up to the other kids her age. Michelle is such an amazing kid!  She has handled all the testing and treatments better than I could have ever imagined.  I am not going to say that she likes it but she is so accepting about everything.  She says this is just her special thing (she believes that God gives everyone something special).  This experience has made her a very compassionate and caring person and matured her way beyond other kids her age.  She is right about one thing God did make her very special!

Jamie's Story

 

Contributing Medical Specialist

Pinchas Cohen, M.D., Ph.D.
Professor & Chief,
Division of Endocrinology Department of Pediatrics
Mattell Children's Hospital UCLA
Los Angeles, California

Resources

»  Download a printable version of the IGFD brochure
»  Download a printable version of the Dental Problems Associated with Growth Hormone Deficiency brochure
»  Download a printable version of the Psychosocial Issues of Growth Delayed Children brochure
»  Download a printable version of the Frequently Asked Questions when Beginning Growth Hormone Therapy brochure
»  Click here for member benefits or to join The MAGIC Foundation
»  "LIKE" The MAGIC Foundation's Facebook page
»  Join our closed IGFD Facebook group for parents. After you request to join, please message an admin to gain access or email Teresa at teresa@magicfoundation.org
»  Would you like to speak to someone about IGFD? If so, call The MAGIC Foundation at 800-3MAGIC3 or (630) 836-8200 or Email Us

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