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Tag Archives: ambiguous genitalia

Case of a “Mistaken Identity”

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Photo courtesy: http://5minuteconsult.com/ViewImage/2027562

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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Beinte-Cinco: Quatro

For the past few days, I have been plagued by extremely premature babies for the first time, all 25 weeks gestational age, with different stories embracing each…

UNO…

Parents are well-to-do. They have a business, requiring husband to be out of town. Allegedly, the current pregnancy is not of the husband’s… Mother came in to the labor room, in active phase of labor, meaning, baby is already about to come out. Based on limited data gathered by my resident, mother is about 25 weeks pregnant, had been having diarrhea few hours prior to abdominal pain.

Baby was born, I immediately provided his needs – intubation, mechanical ventilator support, umbilical vascular catheterization. Despite full support, baby’s oxygenation status was never better. Chest x-ray showed collapsed lungs due to sequelae of prematurity. Husband is out of town, the mother’s companions are her employees, who cannot help me with legalities and decision-making.

Then the obstetrician revealed, (as she has the rapport with the mother), that the mother attempted to abort the baby by ingesting some abortifacient. About six hours from birth, the father arrived, but even if he wanted to be aggressive, the baby couldn’t respond anymore to treatment. They then signed a DO NOT RESUSCITATION order. Baby expired after about 12 hours from birth.

DOS…

Both parents are young and unemployed. Mother is 18 years old, father is 22. She came in too to the hospital because of abdominal pain. When at the emergency room, baby’s head was already presenting so she was rushed to the delivery room. I was called in after the baby was delivered so I rushed like an ambulance driver to the hospital. Baby’s urgent needs were provided and then I talked to the father about baby’s condition, what he needs. Unfortunately, even after he has called all possible resources, he wasn’t able to provide the medication baby badly needed.

Baby was only relying on the mechanical ventilatory support. However on the 30th hour of life, he started showing signs of deterioration. His mechanical ventilatory settings were unusually high that eventually led to rupture of both lungs (just as when I left the hospital). I had to rush back to possibly rescue baby. His x-ray revealed rupture of both lungs, with air escaping out but still within chest cavity, thus compressing both the lungs, and the heart. If this were not addressed, baby will die in a few minutes..

I called in a pediatric surgeon to insert tube to drain the air, while I only deed a rescue needle thoracentesis. Alas, after our attempts to rescue baby, he didn’t make it. He expired at about 38 hours from birth.

TRES…

I was informed that there is a pregnant mother, on her 28th week gestational age, for control of labor, but if she will deliver, I will attend to the baby. At least, the baby was older this time (and so I thought)… I instructed then the NICU staff to prepare equipment that baby will need upon delivery. Only two hours after the referral, the phone rang again, calling me now to the delivery room as the baby’s head was already almost out. At least this time, I was already able to have dinner.

I rushed to the hospital and in less than 10 minutes, baby came out. But baby wasn’t looking normal, he was deformed. His head and face were deformed, the abdomen was as large as the head (normally, for a preterm, the head is larger, abdomen and chest are almost the same in diameter), the feet are compressed, looking like club foot. When I was asked what the gender of baby was, I couldn’t commit whether baby is a boy or girl. It seemed like there are scrotal sacs, but empty (which is expected at this gestational age), there was a protrusion that is hard to discern if its penis or clitoris. (In cases where genitalia is ambiguous, we are not obliged to assign a gender until we were able to document it by chromosome (DNA) analysis, so as to avoid mistake in gender assignment). Baby’s skin were also showing red spots highly suggestive that baby has congenital infection, probably german measles or cytomegalovirus. The large abdomen suggests that liver or kidney is enlarged. Whether it is a tumor or a reaction to maternal infection during the course of pregnancy, I could not be certain. Physical assessment also revealed that baby is only 25 weeks, and not 28 weeks as thought of by the mother.

Upon birth also, heart beat was already less than normal, and he was already gasping (an ominous sign of arrest). I already knew that resuscitative efforts in this kind of situation will be otiose. So, I immediately called in the grandmother (as the husband is abroad) and explained how futile resuscitating baby is. We provided comfort care, had baby baptized, and waited for baby to expire.

In retrospect, I learned that at 5 months gestational age, baby’s ultrasound revealed that there was polyhydramnios (excessive amount of amniotic fluid). The placenta was large too, heavier than the baby, also substantiating my suspicion that mother had a lethal form of asymptomatic infection that grossly affected the baby.

After 58 minutes from birth, baby expired.

QUATRO…

It was a Sunday, it was supposed to be lazy day, rest day for me, but for some crazy reason, the world does not want me to fully enjoy my rest days, this day included. I was called in for emergency cesarean delivery at a hospital for the birth of yet again 25 weeks old baby. Baby had to be delivered as the hand is already coming out of the vagina.

Upon arrival at the hospital, the obstetrician and her assistant was already operating on the mother so I barely had time to prepare. Baby came out in few minutes and needed resuscitation as he was not spontaneously crying and breathing. We had to provide bag-mask ventilation but the equipment was dysfunctional. Also, many equipment that baby needs is not available in that hospital so I had to immediately transfer baby to a higher center. The baby is the 2nd child, the 1st child being 13 years old already and parents want the baby to live. What am I to do but to stress myself thus? (evil-grin) 

The ambulance and I rushed to the other hospital in convoy. Again, his needs were provided. This time, I or perhaps the baby was lucky because the father was able to provide that much needed surfactant. Also, the baby’s lungs are not that collapsed compared to the other ones I previously mentioned.

It seemed that the mother has uterine infection as the bag of waters broke one day before she had labor pains. Usually infections at this week of gestation is lethal/deadly to the premature baby.

The baby is currently stable at present, although still requiring mechanical ventilatory support.

 

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