Case of a “Mistaken Identity”

30 Oct


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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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