My head’s spinning!!
…And, with a new group of children comes a new group of conditions. Like my students with Cerebral Creatine Deficiency Syndromes (CCDS), Phenylketonuria (PKU), and Posterior Urethral Valves (PUV), a child with Congenital Adrenal Hyperplasia (CAH) has landed under my care (poor child). Just the name itself gives us a ton of information:
Congenital (existing at or dating from birth)
Adrenal (relating to those two ductless glands piggy-backing the kidneys)
Hyperplasia (refers to enlargement of the adrenal glands, not enlargement of the phallus/clitoris. The adrenal glands are enlarged because they are trying to make cortisol, but instead make too much testosterone.)
So, we know it’s from birth and deals with enlarged adrenal (suprarenal) glands. Okay, done…right? Naw. Let’s dig in.
Here’s what we’re gonna learn:
- Review of the adrenal glands
- Review of how we receive the genetic traits from our parents
- What is Congenital Adrenal Hyperplasia
But, first… let me sum up this whole article. The primary, numero-uno mission for you and the child you are taking care of with Congenital Adrenal Hyperplasia (CAH) is this:
To maintain adequate hormone levels (via prescription medications and assessment for PRN stress-dosing) in order to optimize the child’s ability to maintain electrolyte balance, blood pressure, adequate acid-base balance, and normal stress response.
Mic drop…exit stage left…well, not so fast. Let’s learn more.
Anything “south” of this bold mission statement above is just information to get you to keep thinking: BLOOD PRESSURE.
I know you know this stuff. But, these articles are written for more than us brilliant, all-knowing, awesome, good-looking school nurses. And, for the momma, teacher, and those needing a review, we’ll go over the basics of those two little kidney-piggy-backing glands that crown two of our body’s “washing machines.”
The adrenal glands are made up of two very different parts:
- The adrenal cortex
- The adrenal medulla
The adrenal cortex is the outer part of the adrenal gland. Without the hormones from this part of the organ, we’d not do very well (actually, we’d die, but I didn’t want to be so morbid). The adrenal cortex of the adrenal gland produces cortisol and aldosterone.
Cortisol – This is our body’s “fight-or-flight” hormone. It’s also known as our body’s stress hormone. However, it does so much more than gear our body up for “fighting” or “flight-ing.” Most of our body’s cells are created with cortisol receptors. And, depending on the cell, cortisol is responsible for triggering so much more than just the “fight-or-flight” response. Just when I feel that I could do without so much cortisol during my morning commute, I remember that cortisol also is a blood-sugar-regulating, metabolism-regulating, inflammation-reducing, memory-making, sodium-balancing, immune-aiding, energy-working hormone.
- 1) Regulates blood sugar levels
- 2) Regulates metabolism
- 3) Reduces inflammation
- 4) Aids in memory-making
- 5) Balances sodium levels (blood pressure)
- 6) Aids in cardiovascular function
- 7) Works to aid the immune system
- 8) Works to help the body use fat, carbohydrates, and proteins for energy
To help you envision having a high level of cortisol in the body for a short period of time, then consider the bison you startled when out taking photographs in Yellowstone one autumn. Yes. High levels of cortisol during a stress situation is… well… no cause to become stressed. But, if there is too much cortisol in the blood for a long period of time, that’s not so good. We may or may not talk about Cushing syndrome (Cushing’s syndrome); that’s when you have too much cortisol (or cortisol-like stuff) in your blood for too long. But, that tale may be a story for another day. Bottom line: bad things happen with too much or too little cortisol in the body.
What about aldosterone?
Like cortisol, aldosterone is pumped out of our adrenal cortex and will regulate our blood pressure (the salt thing). Aldosterone promotes the regulation of sodium and potassium levels (as part of the infamous renin-angiotensin-aldosterone system), which, by the way, also maintains the blood’s pH levels (lagniappe!). Without aldosterone and given a drop in our blood pressure, we wouldn’t be able to tell the kidneys to hang on to the sodium and get rid of some potassium. And we know how well sodium and water get along. These folks who have low aldosterone are also lovingly known as “salt-wasters.” Now, take Mr. or Ms. Salt-Waster outside for PE or even a warm field day.
We’ve talked about the adrenal cortex, now what about the adrenal medulla?
If the adrenal cortex is the krapfen, the medulla is the jam filling (yummmm… doughnuts… mmmm… involuntary saliva reflex… where’s a tissue?)
The adrenal medulla secretes epinephrine (adrenaline) and norepinephrine (noradrenaline). When our blood sugar is low, the adrenal medulla secretes epinephrine. The epinephrine (through a process) results in the use of the stored glycogen in the liver and releases fatty acids from our “fat parts.” As for me, I got plenty of fat parts… I bet I could power a small town with what I got stored up in my midriff, given enough epinephrine… ahhh… I digress…
For the most part, epinephrine is released only in times of stress… remember that surprised-bison incident? Whereas norepinephrine is being released at lower levels all the time, epinephrine gets “dumped” into the system during a stressful event.
There’s more to it all, but that’s beyond the scope of this article (and thank goodness… that stuff is hard to explain). The bottom line: The adrenal glands are super-important dudes; thank goodness we have two.
Review of how we receive the genetic traits from our parents
Human Genome Project estimated that humans have between 20,000 and 25,000 genes. These genes have information needed to make proteins… and these proteins do some pretty awesome-azing things. Proteins are not just our “meat.” Proteins are big, complex molecules that perform many amazing feats in the body. If the genes are the instructions; then proteins are the components built by using the instructions. Where do we get the genes? Yep… mamma and daddy. Well… that doesn’t explain it fully. The question “Where do genes come from?” is a “chicken or the egg” kinda question. So, to keep our discussion simple, let’s just say we get our genes… our instruction books… from our parents. And, every single instruction book (our genes) a human being receives initially comes nicely packaged when two cells… well… you know: half from mamma and half from daddy. And those cells end up passing mamma’s and daddy’s vital information along to TRILLIONS of “us” cells. You knew this… but it still blows my mind how this all works. And, for the most part, it works well. But… then there are congenital disorders… rare when looking at how many times things go right. But, to the individual with the disorder, “rare” ain’t got nothing to do with it.
Congenital disorder (congenital anomaly) is the same as a genetic disorder, right? Well… not really.
A congenital disorder is a condition that exists at birth (well, before birth, but that’s being too technical). When structural deformities are termed “congenital anomalies,” they are defects that occur to the developing fetus. A congenital disorder could be due to a genetic issue, something that happens secondary to an infection that occurs during the pregnancy, or an error in the processes that causes the baby to “take shape” (morphogenesis). The congenital disorder may be due to the intrauterine “home” that babies develop within (mamma’s womb) that just wasn’t quite right. This intrauterine environment may not have anything to do with the mother’s “infrastructure” either. It may have to do with issues like we talked about in the PUV article I published some time back.
Though a genetic disorder or a hereditary condition could be considered a congenital disorder, the genetic abnormality that the baby is born with has to do less with physical environment the baby is developing within and more with the instructions the child received from either mamma, daddy, or both (and sometimes the genetic disorder “just happens”). The baby may develop a condition like colorblindness or Sickle Cell Anemia. This “abnormality” will develop not because of an in-utero injury, illness, environment, or “just because”; it develops because the “instructions” received from mamma or daddy (or both) were written that way (the “why was it written that way” question is one I cannot answer).
Congenital Adrenal Hyperplasia is a genetic disorder. Remember that a congenital disorder could be “due to a genetic issue?” To further complicate things, it is an autosomal recessive disorder (actually Congenital Adrenal Hyperplasia is a group of disorders).
Okay, let me see if I can explain the difference between autosomal recessive and dominant disorders.
Autosomal recessive disorders are where mamma and daddy are carriers of the mutation in their genetic makeup but do not have the actual disorder. Maybe the mother and the father have the mutated gene for… let’s say Tay-Sachs disease but have no symptoms of the ailment. They are carriers of the mutation and suffer from none of the issues associated with Tay-Sachs disease. However, depending on the this-that-and-the-other (a long story), there’s a 25% chance that their child will actually develop the disease, a 50% chance that their child will carry the mutated gene, and a 25% chance the mutation will not find its way into their child’s genetic makeup at all.
Autosomal dominant disorders are where one of the parents actually suffers from the genetic issue, and the other does not have the condition or the mutation in their genes. The result will be a 50% chance that their child will actually develop the syndrome and a 50% chance the mutation will not find its way to their child’s genetic makeup. If one parent has the mutated gene and suffers from let’s say Marfan syndrome, then there will be a 50% / 50% chance the child will develop the condition and a 50% chance the child will not have the condition at all.
One more thing: Steroid 21-hydroxylase
The enzyme called Steroid 21-hydroxylase is directly involved with the multi-step process of taking other components and creating the steroid hormones aldosterone and cortisol in the adrenal glands. I’d love to go on and on about how this happens, but that story would mean another 2,500 words and would involve words like “biosynthesis” and “substrates” — let’s not go there…whew!!
Just remember it like this: without yeast, we don’t get the fluffy bread. Without Steroid 21-hydroxylase we don’t get aldosterone and cortisol.
Okay. Finally. Let’s talk about Congenital Adrenal Hyperplasia.
Congenital adrenal hyperplasia (CAH) is actually a group of autosomal recessive disorders. CAH affects the (you guessed it) adrenal glands. The adrenal glands are like little hormone factories pumping out:
- Corticosteroids like cortisol
- Mineralocorticoids like aldosterone
- Androgens (male sex hormones we haven’t discussed)
We haven’t talked about androgens yet. The production of these male-like hormones increases in contrast to the decreased production of cortisol and aldosterone. In turn (classic CAH), little boys may be born with a larger-than-normal penis, and little girls may have atypical genitals at birth. But, that’s all we’re going to say about that because for us school nurses, this has little bearing on our ability to care. It’s just FYI and likely where the “hyperplasia” part of the term comes from.
There are two forms of Congenital Adrenal Hyperplasia (CAH) that we are going to discuss: Classic CAH and Nonclassic CAH.
Our children with classic CAH will have a reduced level of cortisol that can affect their body’s sodium levels, and in turn affect the blood pressure (secondary to dehydration), blood sugar, and the child’s energy level. With the lack of aldosterone, they may have low blood pressure due to the lack of sodium and a whole array of symptoms secondary to their body’s electrolyte imbalances as well as their acid/base balance (the sodium and potassium imbalances we talked about earlier).
Classic CAH will usually have been diagnosed well before their first year of school. However, classic CAH is the form of CAH that will require as much attention as a child at risk of anaphylaxis or seizure. There should be a plan of care and cooperation between parents, the school nurse, and those caring for the child in the school nurse’s absence.
We’ll talk more on this later.
You may have a child with no diagnosis of CAH. However, you begin to notice a 2nd-grader that may could have benefited from your 5th-grade puberty class because the 2nd-grader seems to be entering into a puberty-like period in his or her life. And you, the awesome school nurse, may be able to identify these symptoms and put two-and-two together, whereas the parent / guardian may think only that the child is just “developing” early. Sure, we’ve seen the 3rd-graders with their menstrual cycles or the 2nd-grader with exceptionally hairy legs. But, with your extra knowledge of growth and development, you may notice symptoms in children with Non-classic CAH aside from the ever-increasing frequency of “early puberty.”
Girls and boys may develop armpit and pubic hair early in elementary school. You may notice a more-rapid-than-normal growth spurt after a summer break. Maybe the child has very early signs of acne.
Middle school and high school girls may have absent or irregular menstrual cycles. The older girls may have more facial or body hair and sometimes deeper voices.
From here on out, we’ll talk about Classic CAH; it’s the one where we school nurses will need to be at our best if symptoms present.
In walks the school nurse
Really, what we are looking at in Congenital Adrenal Hyperplasia is not necessarily the aldosterone and cortisol insufficiency but the end result of an electrolyte imbalance, alteration in the body’s acid-base balance, subsequent alteration in blood pressure, and an imbalance in the child’s blood glucose. Yes, yes! We ARE interested in aldosterone and cortisol insufficiency. Don’t get me wrong here. But the end result is a wonky electrolyte level (potassium and sodium) that may result in symptoms such as:
- Abdominal pain
- Pale skin
As a matter of fact, all of these symptoms could be the result of hypotension and dehydration (with hypotension being a symptom of dehydration…yes…it’s all a big circle of cause and effect). So, what do we as school nurses do when we have a child who has a diagnosis of Classic Congenital Adrenal Hyperplasia begins to show symptoms like those listed above? We get really serious, really quickly. A call-to-arms is necessary with the same focus as we would give a child suffering from anaphylaxis or a seizure (though with a different medical interventions, of course). The Acute Adrenal Crisis ain’t no joke.
An Acute Adrenal Crisis is life-threatening
Bottom line, there are two focuses here:
- When the body does not produce enough of its own cortisol and aldosterone, they must be replaced by the use of medications.
- When the body has an electrolyte / glucose imbalance, then balance needs to be reached with the use of supplements.
Helping the body maintain as much autonomous function as possible is goal number one! Most of the school children will take a medication form of cortisol called hydrocortisone. Older children may take hydrocortisone, prednisone, or dexamethasone; these also work to replace the natural cortisol that would have been present otherwise. Those suffering from Classic CAH may also be on a medication called fludrocortisone to replace the low or absent aldosterone.
Without an adrenal cortex “dosing” the child with his / her needed cortisol, a “stress dose” (that’s what it’s called: “stress dose”) may be needed in the event the child has a fever, vomiting / diarrhea (losing electrolytes), fractures (stress), or even a bump on the head may be a “stress” event big enough for a stress dose. Each year, one of my children…some child…at some school…at some point in time…will break something. If the child with CAH breaks something, or receives a bump on the head that results in a concussion, you will likely need to initiate that preexisting physician’s order for that “stress dose.” You WILL find the doctor (already having) ordering the “stress dose” based on the child’s fever level if the child becomes ill or for a “stress” event. The orders will most likely be something similar to (examples only):
- Fever greater than 100.5 degrees: Double the hydrocortisone dose for the day
- Fever greater than 102.0 degrees: Triple the hydrocortisone dose for the day
The doctor may “OK” a repeat dose if the child vomits during or shortly after the administration. And, if vomiting persists, the child may need an injectable dose of hydrocortisone called Solu-Cortef (not to be mistaken for Solu-Medrol).
Consider the intervention to offer very salty foods or drinks or even salt tablets to replace lost sodium. Additionally, the blood sugar may be a concern and clear, sugary drinks may be beneficial.
Remember to pay attention to your nursey-senses. If symptoms persist despite the Solu-Cortef and PO electrolyte interventions, you’ve got yourself a 911 issue. MAKE THE CALL!
TIP: Do not wait on the EMTs before giving the Stress Dose.
For the School Nurse to Consider
First and foremost comes the meet-and-greet with the parents and the child. Trust me on this one: the ones that have been taking care of the child KNOWS CAH and not only are they intimate with CAH but they know exactly how their child responds to CAH. The school nurse knows something about CAH and Adrenal Crisis. By the time the child has made it to his or her school years, parents have learned EVERYTHING about CAH and know exactly how their child responds to CAH. They know all the tips-and-tricks that are unique to their child’s body’s response to CAH. Listen to them. Learn from them.
Second, get every possible contact number you can. You want to be able to wake up someone and hear that relief-giving “hello” on the line when you feel the need to communicate with the family.
Make sure you have at least a three-day supply of oral medications at highest stress dose levels.
I do not know a school nurse that does not have access to Tylenol or other antipyretics (reduces fever). And get a doctor’s order / parameter as to what antipyretic to give and what symptoms to give it for. Many districts need verbal parental permission to give OTCs and even OTCs that permission was given during registration. Having that doctor’s order for even “Give Acetaminophen XXXmg PRN for fever over XXX.X degrees every X hours” will be beneficial to ensure you know what to do, why to do it, and when to do it. We know how many times we call mamma or daddy and get no answer. We need that doctor’s order for that PRN dose to avoid having to wait.
Have a few electrolyte drinks on hand like Gatorade, NOOMA, Pedialyte or the like. Having a doctor’s order is a plus but permission from a parent should be A-OK. If mamma or daddy brings the electrolyte drinks, I usually take that as understood permission (as I do when the parent brings in an OTC).
If it’s early in the school year or the child is transferring into your care from another school (no yearbook photograph taken), ask the parent if you can take a photograph of the child and be sure to add a photograph to your emergency “system.” You know, the system you use to ensure the teacher, office staff and all the need-to-know knows this child and can identify them and the symptoms that will result in triggering the “Uh Oh! Something ain’t right here!” mode.
I had mentioned earlier that an adrenal crisis is like anaphylaxis or a seizure. Well, kinda. There’s likely a little more time to “think.” So the use of clean technique can be observed and privacy maintained. Unlike identifying the symptoms of anaphylactic shock and using an EpiPen to the thigh and injecting the medication even through clothing, giving a Solu-Cortef injection can be done in private (for the most part — use your nursing judgement in the situation you find yourself in). So, have an emergency kit with Solu-Cortef at the ready. Make sure you know how to give it and have physician’s parameters as to when to give it. Your kit should include:
2 or 3 doses of Solu-Cortef (“Two is one, one is none, and three’s for me!” – Nurse Kevin)
- Syringes with needles (check for that needle)
- Alcohol wipes
- How-To Information for the layperson on a field trip
- Emergency Contact List
QUESTION: Does the child have anything that will identify him/her as one who suffers from Adrenal Insufficiency like a bracelet? (AMAZON LINK)
Does the Child Need a 504?
In a word: Maybe. Does the child need a plan of care? In a word: Absolutely. I would focus my plan of care on adrenal insufficiency and adrenal crisis. Consider reviewing Addison’s disease for goals and interventions. Later, I will likely do an article on Addison’s disease. But, an adrenal crisis is an adrenal crisis despite the cause or ailment.
The go-to resource for those suffering from congenital adrenal hyperplasia is the CARES Foundation.
You’re Gonna Need a Care Plan and an Action Plan
If a child with a known diagnosis of CAH is found with one or more of these symptoms, you will need to implement the directions of your action plan:
- Severe pain in the low back, abdomen, or legs
- Vomiting and diarrhea
- Low blood pressure
- Loss of consciousness (that’s NEVER good)
- Cold clammy skin
- Fast heart rate
- Fast breathing
- Pale face
- Signs of dehydration
- Dark circles under eyes
- Severe fatigue
- Salt craving
- Symptoms of shock
The two questions you should ask before the adrenal crisis are:
- Do you have a doctor’s orders for the specific stress dose instructions?
- Do you have a doctor’s order for giving Solu-Cortef (and do you have at least a dose on hand)?
With directions on your action plan and the medication on hand you will be awesome like Captain Picard and get to shout, “Make it so!”
Here are a few nursing diagnoses that may get your started with your care planning:
High risk for fluid volume deficit related to Electrolyte and acid-base imbalances secondary to increase in sodium and water excretion with potassium retention.
Risk for Imbalanced Nutrition: Less Than Body Requirements related to vomiting, diarrhea, loss of appetite and decreased oral intake tolerance
Risk for Decreased Cardiac Output related to dehydration secondary to low corticosteroid production
Risk for Unstable Blood glucose related to to low corticosteroid production
Risk for Impaired Urinary elimination related to dehydration secondary to dysregulation of sodium and potassium levels due to low or lacking aldosterone levels.
Risk for Disproportionate Growth related to an imbalance in the production of male-like hormones (Androgens)
Risk for Ineffective Self Health management related to lack of understanding of activities that may result in symptoms of an adrenal crisis
Risk for acute Confusion related to hypovolemia and secondary reduction in tissue perfusion.
Risk for Impaired Social Interaction secondary to activity restrictions that may result in excessive sweating like those during PE, recess, and warmer weather.
There’s more that could be used, but this may get your nursing brain juices flowing.
This was an especially difficult article to write. I NEEDED someone to make sure that the information I pass along to thousands of other Awesome School Nurses have the correct information pertaining to some of these really tricky illnesses, conditions, syndromes and other conditions the School Nurse may find herself. I reached out to the CARES Foundation for help and their Medical Director graciously agreed to review this information and both provide a technical edit as well as provide validity to this information.
THANK YOU Karen Lin Su, M.D.
CARES Foundation, Inc.
(Congenital Adrenal hyperplasia Research, Education and Support
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