Genetic Disorders Expert Forum
pituitary dwarfism
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pituitary dwarfism

Hi, I have a little girl who is almost 5 years old. She is very tiny for her size, stands about 32 inches tall and weighs about 25lbs. She was born at 6lbs 5 oz and was 18 inches long. She is healthy but has celiac's disease, her limbs are proportionate to her body. I have often considered that she may have pituitray dwarfism but nobody has ever agreed with me, however she does have all the symptoms, they fit her to a T.
Since she has started school her size difference compared to the average child has really come into focus for me. She is a very bright girl with lots of potential. How do I go about getting her an accurate diagnosis. She was labeled as FTR as an infant and they really focussed on me, when they realized she was being tended to like a baby should they backed off and let her be.
Is there something in particular I can ask the dr to look for? what kind of dr deals with this sort of thing. If she does not have this and is just wee than I can deal with that, she right now doesn't see herself as the smallest child in her class, in fact she will tell you that another girl is much smaller than herself (which is not true) she has a great self image and has been taught that she is the perfect size for her, but I worry that when she is older and more aware of the differences that her outlook may change.

Any advice you can give me would be appreciated.
264002_tn?1193282555
That is good to hear that your daughter has a great self image.  There are several tests that your doctor can order to determine why she is small for her age.  Some causes of short stature including pituitary dwarfism can be genetic.   As you mentioned, people with pituitary dwarfism are not disproportionately small.    Pituitary dwarfism is caused by problems arising from the pituitary gland which is a gland that produces different types of hormones.  A pediatric endocrinologist or a pediatric clinical geneticist would be the appropriate types of physician for to evaluate short stature.  Your pediatrician may have a recommendation or you can find a medical geneticist through the American College of Medical Genetics (ACMG).  
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you can have a blood test to test her growth hormone levels and the type of specialist for that would be an endocrinologist.  i only know this b/c we just went through this sort of testing (for a different reason though) with our baby.
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