So here we go again.
A 6 year old Caucasian boy with no reported past medical history was brought to the urgent care clinic for vague symptoms including loss of energy and loss of appetite. His father admitted this was not much to go on, but he just felt something is off. He also said the child may be paler than normal. No other issues were reported. The father denied fever, cold or flu symptoms, ear pain, constipation, diarrhea, nausea, vomiting, abnormal bleeding or bruising, cough, shortness of breath. This has been going on for 1-2 days. The father stated child took no medications. The child himself was alert, active and playful on exam, with no signs of anemia, fatigue or drowsiness. He was small for his age (height ~3rd percentile out of 100), but everything was otherwise unremarkable. Vital signs included a BP of 65/36, pulse of 112, respiratory (breathing) rate of 20, blood oxygen level of 98% on room air. Given the one significant abnormality from above, I asked the father if his son had any medical issue or took any medications or supplements of any kind for any reason whatsoever. The father then reluctantly stated that his son was taking growth hormone shots for his small stature.
AT THIS POINT I WAS 100% SURE OF THE DIAGNOSIS.
Ok, I just threw five dollars worth of medical garbledegook at you with that diagnosis. Let’s take a breath and step back.
One old cliche in medicine goes like this: When you hear hooves, think horses, not zebras. That is, think of the most ordinary causes of such-and-such before you start thinking about the exotic stuff. If someone comes in with a headache, for instance, first think of normal tension headaches or migraines before you start thinking of brain tumors. It’s a good rule for 99% of urgent care cases.
At the same time, though, perhaps the most important job of the urgent care doc is to spot the rare zebra hiding among the horses. After all, if you hear enough coughs, sooner or later you’ll find the one caused by lung cancer. If that weren’t bad enough, sometimes the hooves aren’t horses or even zebras at all. Sometimes they are from a goddamn unicorn. This was such a case. Let’s get into why.
When a parent brings in a child for extremely vague symptoms, stating that there just seems to be something off or that they are worried but can’t put their finger on why, there seems to be only two possibilities in my experience. One, is that there is nothing wrong. The other, is that there is something extremely wrong. I have never seen anything in the middle.
This child was one of my first as a non-resident, and did not leave me much to go on. I was lucky in that I had staff that took the child’s blood pressure – it is common in many clinics and even many ERs not to take a 6 year old’s BP unless they are really forced to. This was the only abnormality in his presentation (65/36 is low even for a 6 year old), and if I did not have those numbers, I might have blown the father off. But given the weirdly low BP, I started to wonder if there was something else going on – cardiac, perhaps. Or neurologic. Or in this case, endocrine.
Another complicating factor was the father’s embarrassment that his child was receiving growth hormone injections. No father wants his son to be tiny, and the fact that he did not mention this absolutely crucial fact on initial presentation meant that it was something he did not like talking about. It was the key to the case, and here is why.
The “master switch” of a large number of your body’s hormones is the pituitary gland, located by the front of your brain. It either triggers other glands to secrete many of the hormones that your body uses, or else it makes the hormones directly. If the pituitary is not producing enough of one hormone, such as growth hormone, it stands to reason that it might not make enough of another. In this case, ACTH, the necessary stimulant to trigger adrenal release of cortisol, a necessary stress-related glucocorticoid needed to maintain blood pressure among other things. The pituitary is also involved in a number of sex hormones, but these obviously would not be much of an issue with a 6-year-old; pituitary failure can also lead to thyroid issues, but these can take weeks or even months to manifest, rather than the acute and potentially life-threatening presentation of insufficient cortisol (known as an Addisonian crisis in its more severe form).
Thus, we get that long and painful-to-read diagnosis from above. But if you break it down to its component parts, it does make logical sense. “Adrenal insufficency” just means lack of cortisol, which is just as necessary to your body as thyroid hormone or insulin. “Panhypopituitarism” can be broken down into the terms “pan-” (meaning all, or global; think pandemic); “hypo-” (meaning low; think hypothermia); and “pituitarism” (which obviously means the pituitary gland). Many of those scarily long medical words can be broken down into digestible parts like this, as many of them are based off of prefixes and suffixes which are more easily understood.
Anyway, to call this a rare diagnosis is an understatement. There is very little chance I will see a case like this again in my career. And it happened in just my first couple months at the urgent care.
I got in touch with his pediatric endocrinologist (incidentally, if your kid has a specialist like this for any reason, that would be a highly important part of his medical history). She demanded that I immediately start an IV of hydrocortisone to replace his missing natural cortisol. After I explained this was slightly beyond what an urgent care would stock, she started to hyperventilate a bit and demanded that I ship him off to the ER, which I did by ambulance. I did offer to give him an injection of Decadron but this did not meet with her standards.
I followed up with the father later, who stated that the child recovered rapidly on the hospital’s hydrocortisone and was released after an overnight stay on oral therapy. I never heard back from them, as is typical with urgent care, but given the child’s chronic pituitary issues, this will likely be a lifelong problem. It is a good thing that these days we have the medication to correct hormonal imbalances, including the thyroid hormone and testosterone deficiencies he is likely facing now.