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vanursh posted:
My daughter will be 11 in a couple weeks. She is short stature. 4 feet 2 inches, and only weighs 51/52 pounds. She sees her regular pediatrician and an endocrinologist. She has had every blood test in the book including growth hormone(all normal) and recently went for Chromosome testing. It came back normal, but there was a note stating that individuals who only present with short stature can have a SHOX deletion test(?) done. I have called the endocrinologist back and asked that that test be done. She eats well and gets an ensure every night. She is very active (ADHD). She also swims and loves it.

I guess my question is. Are there other specialists you would recommend? They have predicted her adult height to be 4 feet 7 inches. Both her father and I are a full foot taller than that.
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Roy Benaroch, MD responded:

There are a wide variety of things that can cause short stature in kids.

The first to look for is to always compare the child to the parents—parents who are short are going to have shorter kids. In your case, it sounds like your daughter is predicted to be much shorter than expected, so further evaluation is needed.

Many children also seem short because they're having a delay in maturation. Basically these kids are going to be "late bloomers"—they will grow, but they'll have their growth spurt later. A bone age xray and careful tracking of height over time can lead to this diagnosis. However, you mentioned the predicted adult height of 4'7"—so in this case, it is more than this kind of constitutional delay.

Common general medical problems that can cause short stature include celiac disease and thyroid disease, along with less-common things like Crohn disease and several others. I'm assuming that she's had a thorough medical evaluation, and these conditions have been ruled out.

Babies who are born small for gestational age usually catch up, but some may have persistent small size for reasons that aren't entirely clear.

Growth hormone deficiency (or, even more rarely, resistance to growth hormone) can cause short stature. It can be difficult to test for this reliably—a single blood draw may not show this. Often, a "provoked" test is needed, where medicine is given by IV to drive up the growth hormone levels, which are then tested. Even this kind of testing may not pick it up 100% of the time.

In girls, a genetic condition called "Turner Syndrome" causes short stature. That's a chromosome test, or (better) a test called a "FISH" probe for the x chromosome. Girls with Turner Syndrome have only one X chromosome instead of two. A change in the SHOX gene on the X chromosome (or a missing SHOX gene) can also cause shortness.

For all of these conditions I've listed in the last 3 paragraphs—SGA babies, children with GH deficiency, or girls with Turner or SHOX gene conditions—the treatment that can be offered is the same: injections of growth hormone. That is also FDA approved for children who are aiming to be very short as adults, even if the exact cause isn't known (that's called idiopathic short stature, and it sounds like that may be what your daughter has.)

These injections of growth hormones aren't easy. They're given every day, and they're very expensive. Also, they may help increase adult height, but only modestly—maybe by 1-3 inches, even after years of injections. So for a thriving, healthy girl, it may or may not be worth it to do this. That's up to you and your doctors to discuss. You will also have to consider how many years of growth she has left, and to maximize the potential effect of the growth hormone injections, you may have to delay her puberty.

You ought to be working with a pediatric endocrinologist, that's the best specialist to make sure that a thorough eval has been done, and that's the person to guide you through the pros and cons of growth hormone therapy if indicated.

Best of luck!