Woman by Natalie Angier

Author:Natalie Angier [Angier, Natalie]
Language: eng
Format: epub, pdf
Publisher: Houghton Mifflin Harcourt

The man was twenty-eight years old and six foot nine and sick of being asked if he played basketball. He didn't. He couldn't. His knees were too knocked, his feet were too splayed, and his gait was too awkward. What he could and did do was keep growing. He'd grown an inch since he was twenty-six. He wore a size 19 shoe, six sizes bigger than the biggest shoe you can find in an ordinary men's footwear department. And as the man grew, his gait worsened, which is why he finally consulted a doctor. The doctor referred him to an endocrinologist, who determined that the young man had bones that were both too young and too old for him. Too young, because the ends of them hadn't fused together, as they usually do in late adolescence; too old, because the bone shafts were full of holes. He had a serious case of osteoporosis. He had other problems as well, including insulin resistance like that seen in a diabetic. His blood estrogen levels were elevated, but he wasn't feminized, the way men are when they have a disease that results in excess estrogen production; he didn't have gynecomastia, and his voice wasn't high. He looked like a very tall, knock-kneed, but indisputably masculine fellow.

Eventually he ended up in the office of Dr. Eric P. Smith of the University of Cincinnati College of Medicine, who saw in the patient's symptoms evidence of what medicine had thought was impossible: the man was deaf to estrogen. Smith knew about experiments with mice at Rockefeller University. The researchers had created genetically engineered mice that lacked estrogen receptors. They were so-called ERKO mice—their Estrogen Receptor genes had been Knocked Out, or deactivated. The biologists had worried that such a manipulation would prove fatal—that without the ability to respond to estrogen, the ERKO mice would die in utero. But no, they lived, they were born, they seemed just about normal. Smith decided to check his patient's DNA to see whether his estrogen receptor genes were mutated as well. Had nature done to this man what the Rockefeller researchers had done to their mice? Nature had. Both copies of the tall man's estrogen receptor gene were defective. The genes couldn't direct the synthesis of estrogen receptor protein. The man had aromatase, so he made estrogen, plenty of it. But he couldn't make estrogen receptors. All that estrogen was going to waste, falling on cellular ears that could not hear.

From the first recorded case in history of an absence of estrogen receptors, Smith and his colleagues concluded several things, which they reported in the New England Journal of Medicine: that estrogen is essential to the maturation and preservation of bones not only in women, as had been known, but also in men; that estrogen metabolism affects glucose metabolism and therefore the risk of diabetes; and that, contrary to dogma, estrogen is not essential to fetal survival. Fetal mice don't need it, and fetal humans don't need it. Estrogen, we overrated you.

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