So understanding short stature is interesting
because these children are too short for the parents' expectation
or for your genetic expectation.
You might wonder what could be going on.
What's causing a child not to grow in terms of height.
This is a common concern and it's a symptom, not a disease.
So sometimes short stature is a normal phenomenon,
or it can be a pathologic phenomenon.
There are several reasons why children might not gain appropriate height.
And short stature really is a phrase we use to reserve for any child
who is less than third percentile for their expected height,
given their age, gender, ethnicity, etc.
So, if we have a patient with short stature,
it's important to ask a few key questions
of the family and the patient as they come into the office.
First, it's important to identify any growth hormone deficiency
The way you can ask questions about that
are getting at issues that might have affected the pituitary gland.
Has this child had head trauma,
or a brain infection, or a tumor around the pituitary gland'
Is there some reason why this child
might now suddenly have a deficiency of growth hormone?
It's important to ask about abnormal development through childhood.
There are some genetic syndromes
where children might be developing abnormally
which can affect their eventual outcome.
An example, an obvious example would be Prader-Willi Syndrome.
In Prader-Willi, children in their first year of life
tend to have failure to thrive and a difficulty with gaining weight.
And then after their first year of life,
they start having hyperphagia
and this pathologic desire to eat that invariably results in obesity.
It's also important to ask about the diet.
Ask questions about what this child's eating,
what kind of nutrition this child is getting.
The diet can be a clue not only to social reasons
for a child not growing or gaining weight,
but also can be a clue regarding a disease process
that might be affecting the child.
So how can we expect or calculate what we expect the child to grow'
There's a simple equation that one can use.
Since boys tend to be a little bit taller than girls as their expected height,
the end expected height on average and of course there's variability
would be the father's height plus the mother's height
and then add 13 centimeters and divide by 2.
If you do that,
you will achieve the expected height of a boy when they grow up.
Likewise, a girl you simply take the father's height and the mother's height
and subtract 13 centimeters and divide by two.
And that would be the roughly expected height, of course there's variability.
One of my own daughters is right on target, the other one's well below target.
That's fine, there's some variability
but it gives you a good baseline point to start from.
We've all seen patients come in where both the mother and the father
are much shorter and they have expectations that are perhaps over inflated
for how much they expect their child to gain in terms of height.
It's also important when you examine a child where the chief complaint is,
my child has short stature.
So look for other syndromes which might come with short stature.
There are some obvious ones like Down syndrome.
Down syndrome is generally, fairly, clearly, evident
when you examine a child based on the faces alone.
Although you can, of course, look for sequelae
which we'll talk about in a different lecture.
But there are other genetic syndromes
that maybe a little bit more subtle,
which you might miss at first glance.
An example would be Turner syndrome.
Turner syndrome absolutely results in shortened height in these girls.
And some of their findings like the webbed neck,
or the increased internippleary distance
or the shortened metatarsal are subtle findings.
So this is our example, Turner syndrome.
They have webbed neck, they have a high-arched palate
which you might not see off the bat.
They have a short fourth metacarpal
which you can see right here on this x-ray.
If we look carefully at the metacarpals of that hand,
they're a little bit shorter.
They can also have a shield chest or wide spaced nipples, or a bent arm bone.
But these findings have a variability in terms of how much you can see
until they may be subtle to pick up.
So if we see a child with short stature,
we have to be thinking about what are all the causes
that could be resulting in this child having a shorter than expected height.
Certainly, the most common cause is constitutional delay.
And we'll spend some time talking about that in a bit,
but all this is, is the child going to end up at the correct height.
They're just having a later growth spurt.
It could be that the whole family had a short stature,
and this is actually the expected height.
It could be they have a genetic syndrome like we talked about before.
And another challenging one early in life to figure out is achondroplasia,
which can be a de novo mutation in a child
and that child is obviously going to achieve a much smaller height.
From an endocrine standpoint, hypothyroidism can cause short stature.
So you might think about asking questions about increased sleepiness,
another symptom of hypothyroidism.
Cushing syndrome can result in shorter height
until you might inspect for things like moon facies, striae,
findings of Cushing syndrome.
Growth hormone deficiency absolutely exists
and can be idiosyncratic and that it can just happen.
And growth hormone deficiency absolutely will result in a shorter height.
Keep in mind that the main hormone
regulating growth in the first year of life is the thyroid.
So these children may develop shorter stature after their first year of life.
Systemic diseases commonly cause shorter height.
Things like celiac disease where they're allergic to gluten
and can't absorb appropriate calories.
Inflammatory bowel disease,
same thing in addition there's some metabolic demand
from the disease process itself.
Likewise, cystic fibrosis causes inability to gain calories.
Congenital heart disease can cause short stature
by virtue of the increased metabolic demand
that the heart requires to continue to pump blood
and over circulate in one direction or the other.
Kidney disease commonly cause a short stature
generally through increased metabolic demand.
Environmental causes of short stature are common,
poor nutrition and child abuse, child neglect,
reasons why children aren't getting the food they need.
Keep in mind, and we don't totally understand why,
a neglected child may not gain weight
even if they seem to be getting enough calories.
And exogenous glucocorticoid use,
if frequent, can absolutely cause growth delay.
I once saw a patient who had frequent bouts of bronchiolitis
and was inappropriately getting steroids
and was failing to gain length because of the steroid administration.