At age 22, having suffered through the nasty gauntlet game thrown down by the American university system and landed in the promised land of medical school, the Phantom found himself at an institution in New York City which just happened to be a the center of a Brave New World of scientific inquiry, the New York Hospital, Cornell University Medical Center located on the chic upper East Side of Manhattan, overlooking the East River estuary, housed in sparkling white buildings fashioned after a papal palace, and home to a biochemistry laboratory run by a dyspeptic old guy who could run blood through his beakers and test tubes and analyzers and dissect out the hormones which get made from cholesterol and sent down the assembly line of human adrenal glands, ovaries and testicles and made into sex hormones, hormones which support blood pressure and a hormone essential to life, cortisol.
In one of those fortuitous constellations of history, a group of remarkable women happened to reside in the pediatric endocrinology department of this same institution and these female physicians were forced to confront the problem of babies who were delivered with "ambiguous genitalia" that is, the happy mother looks down between her legs as the obstetrician grasps the newborn and she asks, "Boy or girl?" and the unfortunate, baffled obstetrician sputters, "A healthy baby!"
The problem is the baby has equipment which is not clearly male or female.
These women carried the baby's blood down to the curmudgeon in his lab and asked him to analyze the baby's hormones. They did this because they knew that the shape and nature of a baby's external genitalia, that is whether it is a recognizable penis or clitoris, a scrotal sac with testes or labia all this is shaped and driven and formed by hormones and these kids clearly had deranged hormones.
These women, Dr. Breslow and Maria New and later, Julianne Imperato McGuinley, also knew that the hormone levels were in turn determined by chromosomes and by genes located in those chromosomes.
So they knew that there was a role for genes, for the enzymes produced by these genes, by the hormones produced by these enzymes and that all this resulted in anatomy.
They also learned that the hormonal environment in some way conditioned the brains of infants and children. They saw the most rare and exotic patients who had derangements in the hormone production assembly lines.
And they presented these cases to the medical students assembled in a sweaty classroom theater, along with the diagrams of the biochemical pathways.
For most of the 90 students of this class, the lectures were a snoozer, but for the Phantom it was instant karma. Dr. Breslow described the case of a fourteen year old girl, who had never been much interested in playing with dolls, who preferred running around with boys who turned out to be something more than a tomboy.
She had shown no signs of going into puberty and had been brought to the pediatric endocrine clinic and it turned out she lacked an enzyme, a form of 17 hydroxylase, and because of that, she had not been able to make enough testosterone in utero, when a sort of "first puberty" and thus her external genitalia did not form along male lines. When the second puberty at age 11 to 13 was supposed to happen, she could not make much estrogen either. She had XY sex chromosomes and she had an underdeveloped phallus which was thought to be a clitoris but was actually a rudimentary penis.
She had been able to make enough varieties of male hormones in utero to condition her brain to a certain male proclivity, but not enough to masculinize her primordial penis or scrotum and her testes had not descended.
So there you had it: testosterone had not played its role in fashioning anatomy, but it had played a role in the brain, in behavior, thus the "tomboy" behavior.
The Phantom asked what the doctor intended on doing and she said the child would continue to be raised as a girl, given estrogens, have her testes surgically removed. This caused enough stirring among the Phantom's male colleagues, who seemed to arouse themselves from their stupor and one objected, "But he's a boy!"
"Why do you say that?" asked Dr. Breslow.
"He's got testes, XY and a penis!"
It was then Dr. Breslow leaned over her podium and raised her little finger to the confrontational medical student, and she uttered the words the Phantom has never forgot: "If you have a penis the size of my distal digit, you are never going to function as a male. We can fashion a vagina, bring up her estrogen levels to normal and she can have a life. You want to sacrifice all that for a set of XY chromosomes?"
The Phantom was hooked. The confluence of biochemistry, brain, sexual organs, the beauty of it all was electrifying
He tried to be reasonable. Endocrinology was a field of low remuneration. It had nothing to offer but fascination.
But he had seen the dawning of a whole new understanding.
The same department later identified 5 alpha reductase deficiency.
They established a clinic for what is now called "complete androgen insensitivity syndrome" which the Phantom attended every chance he got.
There was a research ward for these patients, which the Phantom haunted.
The Phantom was not much welcomed by the women of the pediatric endocrine department, and he tried other specialties, but some years after he left the New York Hospital, he felt the gravitational pull back to the world of hormones.
It was the path less traveled, but some planets exert so much gravitational pull, they are inescapable. You simply go into orbit and enjoy the ride.
In one of those fortuitous constellations of history, a group of remarkable women happened to reside in the pediatric endocrinology department of this same institution and these female physicians were forced to confront the problem of babies who were delivered with "ambiguous genitalia" that is, the happy mother looks down between her legs as the obstetrician grasps the newborn and she asks, "Boy or girl?" and the unfortunate, baffled obstetrician sputters, "A healthy baby!"
The problem is the baby has equipment which is not clearly male or female.
These women carried the baby's blood down to the curmudgeon in his lab and asked him to analyze the baby's hormones. They did this because they knew that the shape and nature of a baby's external genitalia, that is whether it is a recognizable penis or clitoris, a scrotal sac with testes or labia all this is shaped and driven and formed by hormones and these kids clearly had deranged hormones.
These women, Dr. Breslow and Maria New and later, Julianne Imperato McGuinley, also knew that the hormone levels were in turn determined by chromosomes and by genes located in those chromosomes.
So they knew that there was a role for genes, for the enzymes produced by these genes, by the hormones produced by these enzymes and that all this resulted in anatomy.
They also learned that the hormonal environment in some way conditioned the brains of infants and children. They saw the most rare and exotic patients who had derangements in the hormone production assembly lines.
And they presented these cases to the medical students assembled in a sweaty classroom theater, along with the diagrams of the biochemical pathways.
For most of the 90 students of this class, the lectures were a snoozer, but for the Phantom it was instant karma. Dr. Breslow described the case of a fourteen year old girl, who had never been much interested in playing with dolls, who preferred running around with boys who turned out to be something more than a tomboy.
She had shown no signs of going into puberty and had been brought to the pediatric endocrine clinic and it turned out she lacked an enzyme, a form of 17 hydroxylase, and because of that, she had not been able to make enough testosterone in utero, when a sort of "first puberty" and thus her external genitalia did not form along male lines. When the second puberty at age 11 to 13 was supposed to happen, she could not make much estrogen either. She had XY sex chromosomes and she had an underdeveloped phallus which was thought to be a clitoris but was actually a rudimentary penis.
She had been able to make enough varieties of male hormones in utero to condition her brain to a certain male proclivity, but not enough to masculinize her primordial penis or scrotum and her testes had not descended.
So there you had it: testosterone had not played its role in fashioning anatomy, but it had played a role in the brain, in behavior, thus the "tomboy" behavior.
The Phantom asked what the doctor intended on doing and she said the child would continue to be raised as a girl, given estrogens, have her testes surgically removed. This caused enough stirring among the Phantom's male colleagues, who seemed to arouse themselves from their stupor and one objected, "But he's a boy!"
"Why do you say that?" asked Dr. Breslow.
"He's got testes, XY and a penis!"
It was then Dr. Breslow leaned over her podium and raised her little finger to the confrontational medical student, and she uttered the words the Phantom has never forgot: "If you have a penis the size of my distal digit, you are never going to function as a male. We can fashion a vagina, bring up her estrogen levels to normal and she can have a life. You want to sacrifice all that for a set of XY chromosomes?"
The Phantom was hooked. The confluence of biochemistry, brain, sexual organs, the beauty of it all was electrifying
He tried to be reasonable. Endocrinology was a field of low remuneration. It had nothing to offer but fascination.
But he had seen the dawning of a whole new understanding.
The same department later identified 5 alpha reductase deficiency.
They established a clinic for what is now called "complete androgen insensitivity syndrome" which the Phantom attended every chance he got.
There was a research ward for these patients, which the Phantom haunted.
The Phantom was not much welcomed by the women of the pediatric endocrine department, and he tried other specialties, but some years after he left the New York Hospital, he felt the gravitational pull back to the world of hormones.
It was the path less traveled, but some planets exert so much gravitational pull, they are inescapable. You simply go into orbit and enjoy the ride.
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