A Crisis of Identity
One hundred and three. The number leapt out at me from the little slip of paper. An incandescent flash of comprehension flooded my brain.
It was fourteen years ago: I was standing beside the trauma bay bed, holding one of Jack’s tiny clenched fists in my hand as I gazed worriedly at his contorted face, his tongue thrusting rhythmically, eyes rolled insistently upward.
His spasming little body was submerged in a beehive of activity, medical personnel busily supplying critically needed oxygen, readying resuscitation equipment, and delivering intravenous medications and fluids.
Paramedics had crashed through the doors ten minutes earlier, wheeling Jack on a stretcher. It had been a sleepy Monday morning in the ED to that point, the mundane chit-chat of nursing staff disturbed only by the raspy breathing and occasional seal-bark cough of a young boy with croup. After dosing the young lad with dexamethasone and settling a misty mask of epinephrine over his face to ease his breathing, I sat in the doctors’ cubicle with my resident, killing time by quizzing her on the case we had just seen.
The relative peace stood in stark contrast to the chaos of a day earlier. Influenza had invaded our city in full infectious glory; it seemed on Sunday afternoon that every coughing child in Calgary had found a nook in our waiting room from whence to spray virus-packed streamers of snot.
It had been a little nutty; hence a little “quiet time” this morning was welcome. I slouched in my chair, somnolent almost, listening to Joanne clumsily regurgitate what she knew about croup.
The shrill ring of the red patch phone shattered my reverie. An ambulance was minutes away, siren wailing, speeding toward the hospital with three-week-old Jack, his body gripped by convulsions.
After discovering him twitching uncontrollably in his crib, his mother had called 911 in a panic. Paramedics were at her house within minutes, applying an oxygen mask to Jack’s face and slipping an intravenous line into one of his miniature veins.
A drop of blood on a test-strip revealed his blood sugar to be critically low. One of the medics immediately pushed a dose of concentrated dextrose through the IV, expecting the seizures to stop. But his spasms persisted, his breathing irregular, his limbs stiffening and relaxing, stiffening and relaxing.
As they loaded Jack into the ambulance the medics administered an intravenous dose of lorazepam, a powerful drug that reliably terminates convulsions. But to no avail - his seizures continued. As the ambulance raced toward the children’s hospital the medics called ahead on the patch phone.
“Give him another dose of lorazepam,” I advised, “and we’ll see you when you get here.”
Minutes later they blew into the trauma room, Jack still convulsing. I took stock: Newborn baby. Unrelenting seizures. Low blood sugar - but no response to a corrective bolus of dextrose. Nor to two doses of lorazepam.
“Eighty milliliters of saline and 200 milligrams of ceftriaxone – and check his glucose again!”, I ordered as my team swung expertly into action.
Fluids and antibiotics infused. Blood sugar re-measured: normal.
“Phenobarbital, 80 milligrams IV!”.
Phenobarbital delivered. No response.
“A blood gas, please! And give him 80 milligrams of fosphenytoin!”
Both phenobarbital and fosphentyoin are potent anticonvulsant medications, and I was growing concerned by the parade of anti-seizure drugs Jack was receiving. Each of these drugs alone, like the lorazepam delivered earlier, depresses the “drive” to breathe; cumulatively they can cause a patient to stop breathing entirely – and respiratory arrest can lead on to full cardiac arrest.
The situation was dire. The “blood gas” test I had ordered would assess the carbon dioxide level in Jack’s system and help me decide whether I needed to intubate him, “capturing” his airway by placing a plastic tube in his windpipe.
We began infusing the fosphenytoin while I waited for the respiratory technician to complete the test, assisting Jack’s breathing as best as we could with an oxygen mask device sealed over his grimacing face. His seizures continued, unfazed by the chemical onslaught.
The technician bustled into the room, blood gas results clutched in her hand.
“His CO2 is 68!” she announced, nodding to her partner at the head of the bed to ready the intubation equipment. The sky-high value was proof that we weren’t supporting his breathing adequately: intubation was indicated. She held the slip of paper up in front of me.
In addition to calculating the carbon dioxide level, the blood gas machine measures serum electrolyte concentrations. Listed on that paper, below the CO2 value, was a sodium level of 103. And profoundly depressed sodium levels, rarely seen, can cause intractable seizures – seizures resistant to all usual interventions.
“Give him fifteen milliliters of 4% normal saline!” I directed. “Hold off on intubation!”
A nurse quickly drew the hypertonic saline solution into a syringe and administered it to Jack.
Bingo. His seizures stopped. His body relaxed; his breathing resumed a regular cadence.
But why was his sodium so low?
I had an inkling as to the answer. I examined Jack carefully. The prolonged seizure and avalanche of drugs had left him extremely drowsy, but he was perfectly formed, physically unremarkable in every way. Except for one thing: while his penis and scrotum appeared normal, his scrotum was empty – no testicles to be found.
Additional testing confirmed my suspicion: Jack was a girl. An abdominal ultrasound revealed a uterus and two ovaries, and chromosome analysis displayed a 46, XX karyotype.
The newborn girl had a disorder of sexual development called congenital adrenal hyperplasia. A key enzyme needed to properly regulate sodium levels was missing, its absence also creating a production-line blockade in the manufacture of steroids – which led directly to the accumulation of enormous amounts of testosterone.
That excess male hormone had saturated the amniotic fluid enveloping my patient as she developed in her mother's uterus. Her external genitalia, heavily influenced by the testosterone bath, masculinized completely, the clitoris elongating and thickening to resemble a penis, the labia fusing to form a pigmented, wrinkled “scrotum”.
Jack’s parents were stunned, to put it mildly. But they recovered admirably, handling the situation with grace and humour. Birth announcements that 18 days earlier had celebrated the baby’s arrival with “It’s a boy! Please welcome Jack!” were hastily revised and redistributed: “Ha, ha, medical error: she’s actually a girl. Please welcome Jill!”.
And in due course, beginning when Jill was two years old, surgical wizardry revised her genitals, dividing the scrotum to restore a normal vagina and shrinking the clitoris to proper size and position.
Problem solved. Jill blossomed into a beautiful little girl, and she lived happily ever after.
Or did she?
To be continued.
*names and some details changed to protect privacy