Congenital Adrenal Hyperplasia
Pediatric EM can be quite difficult. We have discussed how it requires vigilance to see through the mountains of patients presenting with vomiting due to gastroenteritis to find the one kid with an inborn error of metabolism. Additionally, the super ill appearing neonate often induces VTach in us as well: Is it sepsis? Is it congenital heart disease? Well, since those two topics are fun to consider individually, let’s consider them together: Congenital Adrenal Hyperplasia (CAH)
Congenital Adrenal Hyperplasia (CAH)
- CAH refers to a group of disorders that each has an enzyme deficiency that is involved in the manufacturing of cortisol, aldosterone, or both.
- The timing of the presentations and the clinical findings are predicated upon the degree of cortisol and/or aldosterone deficiency.
- Can be so mild that it is clinically unapparent (occult).
- May present in adolescence /early adulthood (nonclassic adrenal hyperplasia).
- May be severe and present in infancy (classic adrenal hyperplasia).
- 21-hydroxylase deficiency is the most common form (~90%).
- Mild 21-hydroxylase deficiency may present with females having precocious puberty and accelerated growth (simple virilization) or hirsutism, oligomenorrhea, and infertility.
- While some females will be noted at birth to have ambiguous genitalia, males with severe 21-hydroxylase deficiency may go unnoticed because their genitalia will appear normal.
- Males with severe deficiency may present with failure to thrive, vomiting, and dehydration and have been known to be misdiagnosed as gastroenteritis or even pyloric stenosis.
BONUS MORSEL – if your pt that you are diagnosing pyloric stenosis in has hyperkalemia, reconsider the Dx and think of CAH! Pyloric stenosis would more likely have normal K or low K.
- Classic Salt Wasting Adrenal Hyperplasia – males with 21-hydroxylase deficiency can fly under the radar after birth (again, normal appearing genitalia) and then present in the first month of life with SHOCK.
- Shock that can be unresponsive to fluid boluses (because they need cortisol).
- Aldosterone deficiency leads to Hyponatremia and Hyperkalemia.
- Cortisol deficiency leads to poor cardiac function, general insensitivity to catecholamines, and increased secretion of antidiuretic hormone.
- Hypoglycemia is commonly seen as well (as it is in any sick child – recall they have small glycogen stores).
Treatment considerations for the child in Shock due to CAH.
Treat the hyponatremia
- Generally IV normal saline will be sufficient at first.
- Oral mineralocorticoid (ex. Florinef) will be started once they are rehydrated.
- Occasionally IV mineralocorticoid is necessary.
Treat the hypoglycemia
- This will likely need to be done expeditiously and needs to be watched closely as they IV fluids will tend to make them drop the glucose level again.
- After first IV Fluid bolus, include dextrose in remaining fluids.
Treat the hyperkalemia
- 12 lead ECG!
- It is rare that the hyperkalemia is severe enough to require therapy, but you never know.
- Insulin therapy may be required, but make sure to augment the dextrose in the fluids first.
- Ideally you will obtain a “bunch o’blood” prior to giving coritsol (or even the dextrose) as once it is given the diagnosis may be clouded… but do what you have to do first. Style points can be argued about later.
- Blood should be sent for coritsol, aldosterone, and 17-hydroxyprogesterone levels. Plus you might want to consider inborn errors of metabolism too (so serum ammonia acids, urine organic acids, ammonia levels, etc).
- Hydrocortisone 50-100mg / meter2 or 1-2 mg/kg IV initial dose followed by same dose divided every 6 hours.
So CAH is yet another condition that can have devastating consequences and yet present as a “simple” vomiting and dehydration picture. Remember that when you assessing the patient for SHOCK, consider:
Obstructive process (ex, huge PE, tamponade, pneumothorax)
Speiser PW, White PC. Congenital Adrenal Hyperplasia. NEJM: 2003: 349, pp. 776-788.
Hughes A. Management of congenital adrenal hyperplasia. Archives of Disease in Childhood; 1988: 63, pp>1399-1404.