Category Archives: Congenital Adrenal Hyperplasia

Resourcefulness in Saving Babies’ Lives

In rural places where sophisticated technology, medicine are scarce if not available, how do physicians like me deal with a baby with a life threatening medical condition — congenital adrenal hyperplasia?

In my place of practice, with about 250 thousand population as of the latest, there is 1 government tertiary (pediatric residency training) hospital and 3 private hospitals (but one pediatric residency training hospital) that could possibly admit cases such as CAH. We do not have pediatric endocrinologist, and the nearest one is in Manila. There are 3 adult endocrinologists though.

At time that we see babies with the above condition, our training as neonatologist is our first armamentarium especially when our babies are in crisis/es, then a proper communication with our pediatric endocrinologists in Manila for further evaluation and management. It would be best if our patients have all the resources to have all necessary tests done, the medications bought. Unfortunately, not all Filipinos are in the same social stratum.

A baby who is already a month old came to my office for second opinion. Baby has ambiguous genitalia,  small for age and showed wrinkling of the skin (sign of failure to thrive), with a serum electrolyte test result (done weeks ago) and a confirmatory result for congenital adrenal hyperplasia. Mother wanted to know what are her options, and if this condition can be reversed. (It is so hard to tell a very definitive answer for these type of questions as sometimes, patients tend to misquote you when they go to another doctor if they are unsatisfied with your answers, or answer them satisfactorily but those weren’t the answers they were wanting to hear.)

One of the problem of congenital adrenal hyperplasia, aside from low circulating cortisol in the body system, is the loss of sodium. (They usually go together). If the sodium goes below critical level, it can trigger seizures that cannot be controlled by anti-epileptic drugs, until the sodium deficit has been corrected. This was my immediate concern. So I had to check first the sodium level of the baby and true enough, it was very low, near the critical level for seizures.

So what will a “probinsiyano” or rural physician do in this scenario? The best and ideal approach was to admit the baby and do necessary correction of the sodium deficit. But the mother refuses. Even if I strongly disagree with the mother bringing the baby home, I cannot force her. Thus, I had to be resourceful and creative on how to treat baby at home.

With regards the sodium deficit, this is usually computed (based on a formula that we, especially neonatologists should bear in mind). Next, derive the maintenance dose of sodium in 24 hours, which is often between 2 to 4 mEqs/kg/day. (If you are dealing with a baby who has deficit, then better use the maximum, which is 4mEqs/kg). Sodium correction however should not be done rapidly, it should be done in 48 hours, at a steady rate (and hence the requisite for a hospital admission).

I was able to compute baby’s sodium deficit and maintenance. Baby is on formula feeding to begin with. I asked the mother what is the average milk consumption for a day and that is where I based my computation. I was able to derive how much sodium is provided by the milk to the baby and it is just the same as the maintenance requirement. So now, my problem is how to deliver/administer the deficit.

There are sodium tablets that could be divided into papertabs and then you can incorporate that to the milk intake of the baby. (Of course, the taste of the milk will be altered — and that might again cause refusal of baby to feed, but then there’s no other way that I can administer the medication as mother refuses baby’s hospitalization). Unfortunately, there are no sodium tablets available locally. So the next alternative for me is to use the ampules or vials of NaCl solution available in the pharmacy (2.5mEqs/mL). With my computation, I got how many mL of the solution is needed per day, divide it into number of feedings per day. After 48 hours, I asked the mother to have the serum electrolyte repeated. Lo and behold, it went normal… So am I done with the baby’s problem? No… because the salt-losing part of the disorder is permanent, unless corrected by medications… which they cant afford yet as of the moment.

I had to maintain the baby on the available steroid and continue the sodium supplementation until the day when parents are able to save for the expenses baby will incur. A month has passed by already, and the baby’s sodium level has been maintained within acceptable level, and baby has been gaining weight as well. Mom checks baby’s sodium on a weekly basis… for now.. I really wish they will be able to raise funds for this…

(Disclaimer: this method of correcting sodium deficit has not been documented by a randomized controlled trial. But for now, it is the only available option I had for this patient. I credit my mentor Dr. Emilio A. Hernandez for teaching me this technique while I was under his tutelage as a neonatology fellow).


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Case of a “Mistaken Identity”


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Once upon a time… a baby “boy” was brought to my office because of intermittent fever. He was almost 2 months old that time, but weighed too light for “his” age. I was worried about “his” condition (as babies who are in their early infancy, once febrile should be worked up for any infection). More so, the baby looked frail and too dry.

Another problem mentioned by the grandmother to me was the genitalia which looked odd. You cannot outrightly say the baby is a boy or girl. It was a case of ambiguous genitalia. Yet in “his” birth certificate, he was assigned “male” gender.

On doing my history, the mother gave birth at a lying-in clinic, and the baby was discharged with the mother the following day. Baby was signed out as “male.” After a week, the baby was admitted at a hospital because of a febrile condition. “He” was treated in the hospital for a week and for unknown reason, the attending pediatrician did not ascertain if newborn metabolic screening was done at the place of birth. What she just said was to do ultrasound to find out the genitalia of the baby, but not in an urgent manner. (Lying-in clinics are not mandatory newborn screening facilities, especially if they are not PhilHealth accredited; but newborn metabolic screening testing is a requisite for a birth institution to be PhilHealth accredited).

Baby was discharged after a week, apparently improved, but still was not thriving well. Two days before they came to my clinic, fever recurred. And since a cousin of the baby is my patient, the mother of my patient (who is an elder sister of this baby’s mother) referred me to her.

I admitted the baby and worked “him” up. I obtained blood sample and sent it to Manila immediately for newborn metabolic screening and gender determination. Another fraction of the blood was sent to the laboratory for electrolyte determination. Lo and behold the sodium in her system was below normal, at the level of provoking seizures (I’m glad “he” did not seize at all before the result came in). I did the necessary correction with my rudimentary ways. Ideally, when sodium chloride is required, the tablet should be used. But since it is not available, what did I do, based on the computations, I used the sodium chloride solution on ampules, divided it into fractions, and incorporated it into the baby’s feeding (this is a method taught by my mentor during my fellowship). It makes the milk tastes saltier but we can’t do otherwise locally.

I’m glad the baby responded with my treatment. Two days into her hospitalization, I got a call that the baby was indeed a case of congenital adrenal hyperplasia. They will soon let me know the gender of the baby after the chromosomal analysis (to determination baby’s gender, also known as karyotyping).

I discharged the baby improved after a week of hospitalization, with maintenance of sodium chloride incorporated to her milk intake and prednisone, pending her referral to an endocrinologist to Manila afterwards. She was already starting to gain weight. On follow-up, they brought along the result of the karyotyping, which then showed that baby is FEMALE.

This was shocking because baby was already named with a male name. Good thing she wasn’t baptized yet, so that remedy of things would still be possible. However, paperworks with the NSO would be tedious to accomplish.

Baby is now on lifetime maintenance with corticosteroids, mineralocorticoids. As a downside, she can’t be given live vaccines. And if she gets infected by these viruses, it might be disastrous for her as her immune system is being suppressed by these steroids.

Matters needed to be remembered here:

1. Newborn metabolic screening can detect congenital adrenal hyperplasia. Had it been done immediately within birth, the urgent metabolic and electrolyte problem of baby could have been addressed immediately as well.

2. When a baby has ambiguous genitalia, it is not urgent that we assign sex of the baby. Label baby as “BABY” and don’t affix any gender/sex until the result of the Karyotyping comes in. This is what I got from my mentors to avoid any gender confusion.

3. Life can still be normal for these kids. Genital reconstruction may be done later on as kids are growing. They need to avoid viral infections though.


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