Courtesy the Westphal family
Parents Jenny and Roland Westphal of Fond du Lac, Wis., pose with their daughters, Emma, Chloe and Olivia last year. All three girls have congenital adrenal hyperplasia, or CAH, a genetic condition that affects their sexual organs. Jenny Westphal was given a controversial drug during her second pregnancy.
By Brian Alexander, NBC News Contributor
When Jenny and Roland Westphal?s first child was born, doctors initially couldn?t say whether they had a daughter or a son.
The new baby had congenital adrenal hyperplasia, or CAH, a genetic condition that results in such ambiguous genitals, it took doctors close examination to confirm she was a girl. Now 6, Emma Westphal has had at least four operations to reconstruct her sexual organs.
So when Jenny Westphal, 26, of Fond du Lac, Wis., became pregnant with her second child, her obstetrician and an endocrinologist insisted she begin taking a drug called dexamethasone right away.
They told her that the powerful steroid could stave off the ambiguous genitalia likely to occur in a second daughter. Westphal didn?t question their advice.
?There were no forms, no discussions of side effects,? Westphal said. ?I had never heard of it, but the endocrinologist said I had to be on it and then the ob-gyn said ?Yes, go on it,? so I did.?
What Westphal didn?t know is that giving dexamethasone to pregnant women has long been regarded as highly experimental, and very controversial. And it's not even clear how well it works.
A new paper by Alice Dreger, a researcher and medical humanities and bioethics professor at Northwestern University's Feinberg School of Medicine, targets that controversy and exposes what she regards as the questionable ethics that have allowed a generation of pregnant woman to serve as virtual guinea pigs for fetal engineering.
The paper, published in the journal Bioethical Inquiry, indicts Dr. Maria I. New, the most prodigious promoter of prenatal dexamethasone for CAH. It also criticizes the institutions where New has worked and the federal government, for ?de facto experimentation on fetuses and pregnant women, largely outside of prospective long-term trials and without adequate informed consent.?
Dreger charges that the government failed to collect and publish evidence about use of dexamethasone and that public funds were used for research to ?prevent benign behavioral sex variations, including tomboyism and lesbianism.??????
At issue is the treatment for CAH, an adrenal disorder that causes an overproduction of male hormones. CAH can occur in several forms, but ?classic" CAH affects roughly 1 in 16,000 births in the United States. It occurs when two parents each carries a certain genetic mutation. Typically, they?re unaware they?re carriers until a child is born with the disorder.
The condition affects both boys and girls. In boys, it can result in larger penises, short stature and, later in life, cardiovascular and blood pressure problems.
In girls, ?like Westpahl's daughter, the male hormones can cause ambiguous genitals. That may sound like mainly a cosmetic issue, but girls with CAH can have frequent urinary tract infections. They may have be unable to have sexual intercourse, or they may find it extremely painful. Even if they are fertile, they may not be able to bear children.
In addition, the male hormones evident in CAH have an effect on brain organization. A girl with CAH may be a tomboy, for instance, displaying male-typical behavior as she grows up.Women with CAH are more likely than women without it to identify themselves as lesbians.
Because the drug treatment targets such brain effects, Dreger and her colleagues accuse New of engaging in a kind of eugenics campaign against lesbians.
Within hours of the article?s release, Twitter was bristling. Susan Rensing, a women?s studies professor at the University of Wisconsin Oshkosh wanted to know why the?National Institutes of Health??is funding research to prevent lesbians from existing.?
While such rhetoric is inflammatory, New has denied any such motivation and the record appears to support her defense. However, what?s not resolved is whether women and their babies have been subjected to unnecessary medical risks in the quest to treat CAH during the past 25 years.
Doctors have been experimenting with dexamethasone in pregnant women since 1984, when a team of French physicians reported that the drug either prevented masculinized genitalia or reduced the severity.
New, the scientist behind the current furor, was then at Weill Cornell Medical College in New York. She began overseeing a program to treat women at risk of carrying CAH babies as early as 1986. The number of women given dexamethasone since then is in dispute, but there may be thousands.
Experience there and elsewhere has shown that about 75 percent of the time, if begun very early in pregnancy, the treatment works to prevent or lessen masculinization of a girl?s genitals. It does nothing to alleviate the other health effects of CAH. Affected people still require treatment.
There are additional drawbacks. For one, since the treatment must begin so early, doctors can?t know if the fetus is male or female, affected by CAH or not affected. As a result, seven out of eight fetuses will be given a drug they don?t need.
And there are hints the drug regimen can be dangerous. Fetuses are exquisitely sensitive to hormonal environment. Long-term studies of treatment effects on brain organization and behavior are extremely limited -- one of Dreger?s complaints -- but there are clues from both human and animal data that both unaffected fetuses that received unnecessary treatment, and?affected ones that did, could experience cognitive deficits later in life, and that males -- who never need the pre-natal drug -- might become feminized.
Even setting aside the issue of lesbianism, experts consulted by NBC News agreed that Dreger does raise valid concerns about the use of prenatal dexamethasone.
?The best we can say is that this is an area where the potential dangers are not agreed upon among investigators,? said Kim Wallen, a professor of psychology and behavioral neuroendocrinology at Emory University. ?At a minimum it seems an extreme use of off-label drug treatment in an area where controlled experiments are critical to human health.?
Dreger used Freedom of Information Act requests to document that New?s patient consent forms haven?t been clear and that supervision by institutional review boards -- set up to keep an eye on?research involving people -- has been cursory, at best. For example, Dreger said, her digging showed that ?up to 2,144 cases of ?diagnosis and treatment,?? occurred outside of long-term trials, though professional bodies have mostly agreed that should not happen.
Officials at Mount Sinai Medical Center officials denied the allegations on New's behalf. They noted that New?s work was examined in a 2010 investigation by the U.S. Department of Health and Human Services Office for Human Research Protections.
New did not respond to NBC News requests for comment. In a statement, Mount Sinai officials said that HHS ?found complaints against her to be unfounded, and that there was no evidence that Dr. New violated HHS regulations for the protection of human research subjects.? They also found that her research had been conducted according to the rules of ethical oversight at Weill Cornell Medical College and Mount Sinai School of Medicine.?
Dreger noted, however, that the federal Food and Drug Administration has never approved prenatal use of dexamethasone. The agency said that doctors can prescribe the drug off-label to pregnant women in order to prevent genital abnormalities, and that such a use does not constitute a ?clinical investigation.?
Because it?s not a clinical investigation, it doesn?t require? approval by an institutional review board. In other words, New wasn?t prescribing the drug; women?s doctors, like Jenny Westphal?s, were. New has only been studying the results of such administration, studies for which she has approval.
That?s at the heart of Dreger?s objections.
?Clinicians do not do big literature searches,? Dreger told NBC News. ?They say ?What should I do?? and if you have experts? -- like New -- ?saying it?s safe and effective, the clinicians reasonably trust the experts.?
Six years after doctors advised her to take dexamethasone, Jenny Westphal believes she took a risk she didn't understand. And, in her case, that risk appeared to have no benefit. Her second daughter, Chloe, now 5, was born with severely masculinized genitalia and will also require surgery.
Today, Westphal wishes somebody had told her about the controversy.
?I could have known more about it if doctors had warned me there are risks, and that not all patients take it,? she said. ?If you could tell me for sure it worked and had no side effects? I would say go for it.?
But given what she?s learned, she refused it when pregnant with her third daughter, Olivia. That child is also affected by CAH.
Brian Alexander (www.BrianRAlexander.com) is co-author, with Larry Young PhD., of "The Chemistry Between Us: Love, Sex and the Science of Attraction," (www.TheChemistryBetweenUs.com) to be published Sept. 13.
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