Tag Archives: Intersex / DSD

All fetuses start out having both male and female parts and thus are initially bipotential, or “intersex” meaning between sexes. The process of sexual differentiation occurs in the first trimester and involves many steps. Any misstep can result in atypical sexual differentiation with varying degrees of masculinization and/or feminization. These processes effect both the genitalia and the mind. Since 2006 the medical term for these conditions is “Disorder of Sex Development (DSD)” however it remains controversial and offensive to many affected adults who prefer the former term, “intersex”. Posts in this category relate to this community.

Dr Cary Gabriel Costello: Intersex Fertility

January 21, 2012 James Pate, MD, FACOG Leave a comment

Cary Gabriel Costello 2011 — Dr Cary Gabriel Costello

Dr Costello writes in his blog entry, Intersex Fertility, that “My daughter was not of woman born. That is a concept that has fascinated people through the ages. My daughter’s gestation was perfectly ‘natural,’ I should point out–but I carried her, and I was never of the female sex; I am a so-called ‘true hermaphrodite.’ I was assigned female at birth, and was living as such when I gave birth to her, but I never identified as a woman, and am now legally male.”

He continues, “I’m glad that I was able to become a parent, but believing that this should have ‘cured’ me of my distress with my assignment is magical thinking along the lines of believing that procreating will ‘cure’ a lesbian or gay man and make them heterosexual. Gender identity, sexual orientation, and procreative status are independent characteristics. Lesbians and trans men and intersex individuals aren’t mystically “converted” by pregnancies. Gay men and trans women and intersex individuals who inseminate someone aren’t thereby made straight or cis or dyadically-male-sexed.”

He concludes: “Most of us who do reap the rewards of fertility do this in private, with no medical journal articles trumpeting a star in the east. In fact, some medical ‘corrections’ of our physical differences render us infertile, and I don’t see why that’s treated as unimportant when doctors are so very willing to write articles about their ‘cases’ who do prove fertile. And the magical thinking behind the idea that doctors can validate a sex assignment through the intersex person contributing the ‘correct’ component, egg or sperm, to a conception just boggles my mind. It’s time for some more sophisticated thinking about intersex fertility.”

I couldn’t agree more. Ready more about Dr Costello, his experiences and his scholarly opinions regarding intersex and trans issues on his blogs:

The Genocide of Intersex People

December 31, 2011 James Pate, MD, FACOG 3 Comments

American Grotesque posted The Genocide of Intersex People on 11/28/11. I recently came across it while catching up on twitter and facebook during my holiday break (a true luxury for a resident!). In this post the author discusses the damage perpetuated by the myth of binary gender, its social construction and legal ramification. The author places hir-self in the place of “patients” whose bodies defy the myth and without consent are reconstructed to appear to confirm it. Yet in spite of appearances they remain outside of the binary and their shame and scars and are shrouded in secrecy and silence. Is this moral? Is this fair? Is this just?

“Our lives begin to end the day we become silent about things that matter. [And] In the end, we will remember not the words of our enemies, but the silence of our friends.” ―Martin Luther King Jr

Am I intersexed?

December 25, 2011 James Pate, MD, FACOG 2 Comments

Dear Dr Pate,

I was born with a DSD. Is penoscrotal hypospadias with severe chordee an intersex condition? Am I intersexed?

Dear J,

Your questions are more difficult to answer than one would think. The term “intersex” has changed in meaning over time, more so among doctors than perhaps many who consider themselves to be intersex. From a medical point of view, your condition would not necessarily have been considered an intersex disorder in the past. However, an international consensus reclassified disorders with either abnormal sex chromosomes (ie XO, XXY) or atypical genitalia under the umbrella term “disorders of sex development” (DSD) in 2006. Given that hypospadias is a condition where development of male external genitalia is halted prematurely, this is indeed a DSD. The term “intersex” however is no longer considered to be a contemporary medical word and has been replaced by DSD.

Adults who consider themselves to be intersex generally have a history of ambiguous genitalia, may or may not have been subjected to “normalizing” genital surgeries in infancy and/or childhood, but do not feel that they fit neatly into the binary boxes of male or female. They usually feel that if surgery occurred that it was undesired and destructive. Their gender identity may be the same as their sex of rearing, opposite, a combination, or something else. Adults who identify as intersex are generally offended by the new medical nomenclature “DSD”; they do not feel that their sex is disordered but rather a natural occurrence within the human spectrum. They are also quick to point out that they are not transgender or transsexual and do not feel that they are a part of those communities. Unlike the trans communities, they feel that their gender identities match(ed) their bodies, though they may not match their surgically altered bodies nor the sex of rearing that was chosen for them. The intersex community is still rather small given the shame, embarrassment and mistreatment individuals were subjected to while growing up as well as the continued ignorance of society regarding their existence.

People that continue to be born with chromosome abnormalities and/or varying degrees of genital ambiguity may feel that they are either truly male or truly female with a DSD medical condition, not intersexed. On the other hand, if their gender identity is the opposite of their sex of rearing then they may consider themselves to be trans. Others feel more comfortable with an intersex identity. Thus the matter of what is considered an intersex condition and who considers themselves to be intersex remains quite murky.

There are intersex groups that exist online and occasionally meet in person. If you are interested in chatting with others like you I would recommend checking out Organisation Intersex International (OII). They are “devoted to systemic change to end the fear, shame, secrecy and stigma experienced by children and adults through the practice of non-consensual normalisation treatments for people born with atypical anatomy, and the arbitrary assignment of a particular gender without an informed consultation with the individual concerned.”

Hope this helps and good luck to you. Happy holidays!

Sincerely,

James Pate, MD
https://jamespatemd.com/

More evidence against DEX for prenatal treatment of CAH

October 21, 2011 James Pate, MD, FACOG 1 Comment

Related post – Prenatal steroids to prevent boyish baby girls (5/19/11)

On 10/19/11 Science Translational Medicine published the research of Dr Emily Tam, MD, assistant clinical professor of child neurology at UCSF, et al demonstrating Preterm Cerebellar Growth Impairment After Postnatal Exposure to Glucocorticoids. Per study abstract:

“As survival rates of preterm newborns improve as a result of better medical management, these children increasingly show impaired cognition. These adverse cognitive outcomes are associated with decreases in the volume of the cerebellum. Because animals exhibit reduced preterm cerebellar growth after perinatal exposure to glucocorticoids, we sought to determine whether glucocorticoid exposure and other modifiable factors increased the risk for these adverse outcomes in human neonates.”

MRI studies were performed on 172 premature infants exposed to steroids before birth in order to evaluate resultant structural abnormalities of the brain. Betamethasone (the drug of choice to minimize the risk of neonatal respiratory distress syndrome in premature infants) was not associated with measurable differences from controls. However, both dexamethasone (DEX) and hydrocortisone were associated with an 8-10% decrease in the size of the cerebellum, the part of the brain responsible for motor control, balance and cognitive function. The association between cerebellar hypoplasia and impaired motor and cognitive function is well established.

So what does this have to do with congenital adrenal hyperplasia (CAH)? As discussed in my earlier post, Prenatal steroids to prevent boyish baby girls, DEX is a controversial treatment offered to women at risk of having a female fetus with CAH with the only aim being to avert masculinization of her genitalia (enlargement of the clitoris, fusion of the labia and elongation of the urethra). This treatment unnecessarily exposes 7 out of 8 fetuses to high levels of DEX (60 times higher than a normal physiologic level) and many of those female fetuses with CAH aren’t even at risk.

This article provides further evidence that DEX is dangerous, shrinks brains in addition to clitorises and may result in lifelong deficits in motor and cognitive capabilities. Other known risks for babies are:

Decreased birth weight
More shyness, social anxiety and emotionality
Less sociability
Poorer working memory (ie reading comprehension) and self-perceived scholastic competence
Less masculine males with more neutral gendered behaviors

DEX treatment is NOT the standard of care, it is experimental and controversial and mounting evidence continues to demonstrate that its risks outweigh its benefits.

“Physicians should not sell themselves short in imagining that they cannot — with their words as much as with their knives and drugs — influence parents to accept their children’s bodies and the possibility that their children could lead rewarding lives with those bodies.”
– Dr Elizabeth Reis, PhD

Medical misogyny

July 3, 2011 James Pate, MD, FACOG 1 Comment

Girls can wear jeans
And cut their hair short
Wear shirts and boots
‘Cause it’s OK to be a boy
But for a boy to look like a girl is degrading
‘Cause you think that being a girl is degrading
– Madonna, “What It feels Like For A Girl”

I am a bit of a news junkie and because of my habit I am repeatedly angered by the ongoing abuse of women around the world: rape for “correction” or as a “weapon of war”, mutilation and honor killings are but a few examples. However a couple of topics in recent weeks have actually made my jaw drop, not because the harm sustained by the affected women was any greater but because of the misuse of medicine and surgical skill to further misogynistic schemes. In India, the selective abortion of female fetuses is nothing new but in select locations and for the right price parents can find physicians who will surgically change their little girls into boys. In the US, the rights of the fetus seem to be surpassing women’s rights given that women have become prisoners within hospitals, undergone surgery without their consent and have even been charged with murder over fetal well-being. These cases demonstrate the pervasiveness of misogyny and the degradation of medicine by its collaborators.

Girls to men

Baby boys naturally outnumber baby girls by around 6%; in other words, for every 100 girls born there are 106 boys that accompany them. Perhaps this is a good thing given that nearly everywhere people seem to prefer boys over girls. Clara Kim, Time NewsFeed, reports “Contrary to the stereotypical notion, girl bias or boy obsession isn’t limited just to Asia. A Gallup poll shows that such a mindset is prevalent in the U.S., too and has been for at least 70 years. The poll asked 1,020 American adults, if they could have only one child, which gender they would prefer. Forty percent of the participants said a boy, while 28% answered a girl. This is not much different from the first poll results in 1941, which were 38% and 24%.” But while Americans are for the most part content to raise whichever gender comes their way, other cultures take a more active role in increasing the rate of male births.

S V Subramanian, a Professor at Harvard School of Public Heath, published in 2009 that “according to the most recent census, for every 1000 males, there were only 933 females, and the corresponding ratio for ages 0–6 years was 927 girls for every 1000 boys. The disproportionate distribution of sexes, at least in more recent years, has been surmised to be driven largely through the use of medical technologies by physicians and prospective parents to determine the sex of fetuses followed by selective abortion of female fetuses. This explanation was initially suggested in the 1980s, and has gained considerable acceptance since then. Some 10 million female fetuses are estimated to have been aborted over the last two decades in India.” By these numbers it appears that there are around 8% more boys than girls among the youngest generation of India and that 2 of every 100 pregnant women with female fetuses choose to abort based on fetal sex alone.

And now there is another way to ensure male offspring. Amrita Kadam of Hindustan Times, India reports that “Girls are being ‘converted’ into boys in Indore – by the hundreds every year – at ages where they cannot give their consent for this life-changing operation. This shocking, unprecedented trend, catering to the fetish for a son, is unfolding at conservative Indore’s well-known clinics and hospitals on children who are 1-5 years old. The process being used to ‘produce’ a male child from a female is known as genitoplasty. Each surgery costs Rs 1.5 lakh [~$3400 US dollars]. Moreover, these children are pumped with hormonal treatment as part of the sex change procedure that may be irreversible. The low cost of surgery and the relatively easy and unobtrusive way of getting it done in this city attracts parents from Delhi and Mumbai to get their child surgically ‘corrected’.”

Dean Nelson of The Telegraph, UK reports that “Indian doctors have been accused of conducting sex change operations on young girls whose parents want sons to improve the family’s income prospects.” It’s not just a preference for boys that is driving the femicide, it is also money. “People don’t want to share their property or invest in girls’ education or pay dowries.” Regardless of parental motivation there remains the doctors’ compliance and lives destroyed by it.

Contrary to Dr John Money’s debunked theory that gender identity is flexible to the whims of social upbringing, medical observation as well as experimentation have proven that gender identity is not malleable. David Reimer was one of Dr Money’s greatest success stories until the truth about his life became known. David’s story began with a botched circumcision that destroyed his infant penis followed by his parents decision to follow Dr Money’s advice to surgically reassign his sex and to raise him as a girl. Unfortunately, David never accepted his forced female gender role and began living as a male at the age of 15. He continued to suffer years of severe depression, financial instability, a dissolving marriage and eventually committed suicide in 2005. His tragic story is catalogued in the bestseller biography: “As Nature Made Him: The Boy Who Was Raised as a Girl” by John Colapinto.

Similarly in Palestine, teenage girls with an intersex/DSD condition that masculinizes them at puberty may be forced to change their clothes and present themselves as boys but their core identities do not change. “‘Only my appearance, my haircut and clothing, makes me look like a boy,’ Ahmed says, gesturing with his hands across his face. ‘Inside, I am like a female. I am a girl.'”

Modification of body parts by physicians without medical indication and without the consent of the person receiving it is tragic and should be criminalized. This is especially true of the sex organs given that at best, surgery permanently alters cosmetic appearance, sensitivity and sexual function. At worst, surgery can result in horrific disfiguration and/or death. Given these risks I strongly believe that non-medically indicated genital surgeries, including circumcision, should be banned for all minors.

Fetal incubator

As if unemployment, home foreclosures and ongoing wars in Iraq and Afghanistan weren’t enough to keep our legislators occupied, the Republican War on Women continues to escalate. According to the Associated Press as reported by MSNBC:

“In 1987, a Washington, D.C., judge ordered a woman who was dying of cancer to have a C-section, which she had refused, to save her fetus. The baby died within two hours of delivery and the mother died two days later. An appeals court later ruled the judge should not have ordered the C-section.

“In 2003, prosecutors in Salt Lake City charged an acknowledged cocaine addict who had a history of mental health problems with murder when she refused to have a C-section for two weeks before finally agreeing to the procedure. One of her twins died in the womb during the delay. Through a plea deal, the charge was later reduced to child endangerment.

“In 2004, a hospital in Wilkes-Barre, Pennsylvania, obtained a court order to force a woman to have a C-section because her seventh baby was oversized, but the order was too late. The mother, whose first six children each weighed nearly 12 pounds (5 1/2 kilograms) at birth, went to another hospital and delivered a nearly 12-pound girl naturally.

“Also in 2004, a judge in Rochester, New York, ordered a homeless woman not to get pregnant again without court approval after she lost custody of several neglected children.”

In 2009, Wikipedia records that “Samantha Burton, a mother of two, was twenty-five weeks pregnant in March of 2009 when she experienced a premature rupture of membranes and displayed signs of premature labor. At the urging of her obstetrician, she sought care at Tallahassee Memorial Hospital. She found not to be in labor, but ordered to remain on bed rest. Her obstetrician, Dr. Jana Bures-Forsthoefel, refused to allow her to leave the hospital to garner a second opinion and then obtained a court order from the Circuit Court of Leon County which required Burton to undergo “any and all medical treatments” that her physician, acting in the interests of the fetus, deemed necessary. The Court held the hearing by telephone with Burton being required to argue her case from her hospital bed without the assistance of an attorney or independent medical opinion. Three days into her court-ordered confinement, Burton underwent an emergency C-section, at which time the fetus was found to be dead.”

In 2010, a law was enacted in Utah that criminalizes unacceptable forms of miscarriage. According to David Usborne of The Independent, UK, “While the main thrust of the law is to enable prosecutors in the majority-Mormon state to pursue women who seek illegal, unsupervised forms of abortion, it includes a provision that could trigger murder charges against women found guilty of an “intentional, knowing or reckless act” that leads to a miscarriage. Some say this could include drinking one glass of wine too many, walking on an icy pavement or skiing.” The 17-year-old whose case ignited the discussion that led to the law is currently defending herself before the Utah Supreme Court.

In 2011, NARAL Pro-Choice America reports that “We are tracking 470 anti-choice bills in 2011 — nearly three times as many as last year.”

And finally, according to MoveOn’s Top 10 Shocking Attacks from the GOP’s War on Women:

Republicans not only want to reduce women’s access to abortion care, they’re actually trying to redefine rape. After a major backlash, they promised to stop. But they haven’t yet. Shocker.
A state legislator in Georgia wants to change the legal term for victims of rape, stalking, and domestic violence to “accuser.” But victims of other less gendered crimes, like burglary, would remain “victims.”
In South Dakota, Republicans proposed a bill that could make it legal to murder a doctor who provides abortion care. (Yep, for real.)
Republicans want to cut nearly a billion dollars of food and other aid to low-income pregnant women, mothers, babies, and kids.
In Congress, Republicans have a bill that would let hospitals allow a woman to die rather than perform an abortion necessary to save her life.
Maryland Republicans ended all county money for a low-income kids’ preschool program. Why? No need, they said. Women should really be home with the kids, not out working.
And at the federal level, Republicans want to cut that same program, Head Start, by $1 billion. That means over 200,000 kids could lose their spots in preschool.
Two-thirds of the elderly poor are women, and Republicans are taking aim at them too. A spending bill would cut funding for employment services, meals, and housing for senior citizens.
Congress just voted for a Republican amendment to cut all federal funding from Planned Parenthood health centers, one of the most trusted providers of basic health care and family planning in our country.
And if that wasn’t enough, Republicans are pushing to eliminate all funds for the only federal family planning program. (For humans. But Republican Dan Burton has a bill to provide contraception for wild horses. You can’t make this stuff up).

Summary

The abuse of women is atrocious in any form but utterly unacceptable within the medical community. It is incomprehensible that physicians would tinker with the genitalia and sex of rearing of innocent little girls given the scientific evidence we already have regarding gender identity formation and durability. It is also unacceptable for physicians to debase women to the level of fetal incubators. End genital mutilation and no wire hangers, ever!

Twin Cities Pride Festival this Weekend!

June 20, 2011 James Pate, MD, FACOG Leave a comment

PRIDE FESTIVAL
Sat & Sun, June 25 & 26, 2011

Festival admission is free. Beer Garden admission is $5 per day and Pride in Concert Headline Show tickets are $10 in advance or $15 at the gate . Minneapolis’ Loring Park will host the 39th annual Pride Festival.

Saturday 10 a.m. – 10 p.m.
Sunday 10 a.m. – 6 p.m.
Pride In Concert Saturday 5:30 p.m.

PRIDE PARADE
Sunday, June 26, 2011 — Ashley Rukes GLBT Pride Parade
Pre-Parade Show at 9am

The 2011 Ashley Rukes GLBT Pride Parade will be held on Sunday, June 26, beginning at 11am along Hennepin Avenue in Downtown Minneapolis. According to public estimates, the Parade again drew over 125,000 spectators last year, making it one of the largest parades in the Upper Midwest, and the largest in all of Minneapolis according to Mayor R.T. Rybak.

Are you a trans or intersex U.S. veteran?

June 17, 2011 James Pate, MD, FACOG Leave a comment

Autumn Sandeen, a U.S. Navy veteran and self-reported "strong, confident transgender woman"

Uncle Sam just got a whole lot more sensitive.

RE: VHA DIRECTIVE 2011-024

POLICY: It is VHA policy that medically necessary care is provided to enrolled or otherwise eligible intersex and transgender Veterans, including hormonal therapy, mental health care, preoperative evaluation, and medically necessary post-operative and long-term care following sex reassignment surgery. Sex reassignment surgery cannot be performed or funded by VHA or VA.

ACTION:

Each Veterans Integrated Service Network (VISN) Director must ensure that necessary and appropriate health care is provided to all enrolled or otherwise eligible Veterans based on the Veteran’s self-identified gender, regardless of sex or sex reassignment status.

Each Medical Center Director and Chief of Staff are responsible for ensuring that:

Transgender patients and intersex individuals are provided all care included in VA’s medical benefits package, including, but not limited to:

Hormonal therapy
Mental health care
Preoperative evaluation
Medically necessary post-operative and long-term care following sex reassignment surgery

Patients will be addressed and referred to based on their self-identified gender. Room assignments and access to any facilities for which gender is normally a consideration (e.g., restrooms) will give preference to the self-identified gender, irrespective of appearance and/or surgical history, in a manner that respects the privacy needs of transgender and non-transgender patients alike. Where there are questions or concerns related to room assignments, an ethics consultation may be requested.

The documented sex in the Computerized Patient Record System (CPRS) should be consistent with the patient’s self-identified gender. In order to modify administrative data (e.g., name and sex) in CPRS, patients must provide official documentation as per current VHA policies on Identity Authentication for Health Care Services and Data Quality Requirements for Identity Management and Master Patient Index Functions.

Sex reassignment surgery will not be provided or funded.

Non-surgical, supportive care for complications of sex-reassignment surgery will be provided.

While care is delivered to the Veteran based upon that Veteran’s self-identified gender, there may be health issues associated with some transgender patients that necessitate appropriate sex specific screenings and/or treatments. For example, a MTF transsexual patient over the age of 50 may require breast cancer and prostate cancer screening. A FTM transsexual patient may require screening for breast and cervical cancer.

A diagnosis of GID, or other gender dysphoria diagnoses, is not a pre-condition for receiving care consistent with the Veteran’s self-identified gender.

All other health services are provided to transgender Veterans without discrimination in a manner consistent with care and management of all Veteran patients.

All staff, including medical and administrative staff, are required to treat as confidential any information about a patient’s transgender status or any treatment related to a patient’s gender transition, unless the patient has given permission to share this information.

Mandated diversity awareness is maintained and a zero-tolerance standard for harassment of any kind.

Prenatal steroids to prevent boyish baby girls

May 19, 2011 James Pate, MD, FACOG 2 Comments

Related post – More evidence against DEXA for prenatal treatment of CAH (10/21/11)

Fetal Sex Development

All fetuses are initially intersex (sexually bipotential) and have both male and female parts. 6-7 weeks after conception, fetuses begin to produce the sex hormones that bring about the process of sexual differentiation. There are many steps involved in this process and often only one misstep is needed to deviate development from the norm. An excellent animated and interactive atlas of child anatomy and physiology that visually depicts the process of typical and atypical sex development is available from the Hospital for Sick Children in Toronto, Ontario, Canada.

Intersex / disorder of sex development (DSD)

The medical nomenclature of atypical sex development has undergone several shifts due in part to increased understanding of its cause. For many years it was referred to as “hermaphroditism”, named after the androgenous Hermaphroditus of Greek mythology. Later “intersex” became the vogue given its literal definition of “between sexes”. As of 2005 the accepted medical term is “disorder of sex development” (DSD) however that is not to say that everyone is happy about the change. Many adults with this condition prefer the term “intersex” and feel degraded by the new terminology. “Hermaphrodite” is even more offensive. Younger people may prefer the new term. In my attempt to be medically accurate and considerate I will refer to these conditions as “intersex/DSD”.

Congenital adrenal hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a genetic disorder of cortisol deficiency that can result in an intersex/DSD condition in affected females. Prevalence is 1 in 14,500 live births. Cortisol is one of our major stress hormones and it is requires 5 different enzymes to be synthesized in our bodies. If one of these enzymes is defective then cortisol deficiency develops. When cortisol levels are too low, the body ramps up production of precursor chemicals to try to make up the difference. Unfortunately having excess substrate does not produce the desired effect of increasing cortisol production. Instead the excess chemicals spill over into other pathways that results in overproduction of testosterone and other androgens. When this happens in female fetuses it causes masculinization of both genitalia and the mind. Physical features of CAH in girls include enlargement of the clitoris, fusion of the labia and elongation of the urethra. In severe cases incorrect sex assignment may occur and difficult reconstructive surgery may be attempted. Boys are not so affected and are not abnormally masculinized.

Androgens like testosterone cause sexually dimorphic structural changes in the fetal brain. For example, these hormones permanently inhibit the growth of certain areas of the left hemisphere and facilitates the growth of the same areas in the right hemisphere in the developing fetus. The human bed nucleus of the stria terminalis (BSTc) is smaller and has fewer neurons in men compared to women. CAH affected females demonstrate more male-typical performance in spatial orientation, visualization, targeting, personality and cognitive abilities. There are behavioral shifts as well including preference for male playmates and toys; decreased interest in infants, marriage, motherhood and “feminine” appearance; and male-typical interests, peer associations, career and leisure time preferences. CAH affected women are more likely to report use of physical aggression in conflict situations, 1/3 self-identify as lesbian, bisexual or queer and 3-5% indicate a desire to live as males.

Prenatal treatment

While the results of masculinization described are not medical problems per se, they can be disturbing for family members and affect the quality of life of affected females. In 1965 Dr Jeffcoate was the first to diagnose CAH prenatally by way of amniocentesis. Attempts to treat affected fetuses with cortisol derivatives (cortisone, hydrocortisone) were initially unsuccessful because a placental enzyme that protects the fetus is highly effective at metabolizing them. However Dr Maguelone of Forest, France discovered that dexamethasone (DEX), another cortisol analog, was effective in the prenatal treatment of CAH-affected female fetuses and wrote about it in 1978. In 1986 Dr Maria New, a professor at Mount Sinai School of Medicine in New York, introduced his technique to the US and as of 2010 has subsequently treated over 600 pregnant women at risk for the birth of a CAH-affected child.

Controversy

In 2010 Dr Alice Dreger, a professor at Feinberg School of Medicine in Illinois, orchestrated a “Letter of Concern from Bioethicists” to report suspected violations of the ethics of human subjects research in the off-label use of prenatal DEX by Dr New. The letter was submitted to the FDA Office of Pediatric Therapeutics, the DHHS Office for Human Research Protections and 3 universities where Dr New has appointments. These accusations were also published in Time magazine and online at fetaldex.org. Her accusations are as follows:

Experimentation on pregnant women and their unborn children without informed consent. Dr New and colleagues routinely state that treatment is safe and fail to inform patients that treatment is highly controversial within the medical community.
Endangerment of women & their children

Known adverse effects in women include

Increased appetite
Rapid and excessive weight gain
Increased stretch marks
Increased edema
Insomnia
Mood fluctuations
High blood pressure

Known adverse effects in children include

Decreased birth weight
More shyness, social anxiety and emotionality
Less sociability
Poorer working memory (ie reading comprehension) and self-perceived scholastic competence
Less masculine males with more neutral gendered behaviors

Because treatment must begin before prenatal diagnosis can be made, 7 out of 8 fetuses are unnecessarily exposed to the risks of DEX
To date there has been poor follow-up of DEX-exposed children thus increasing the chances that adverse effects will continue to go unnoticed

Questionable experimental objectives. While masculinization of female genitalia may increase infection risk and/or preclude coitus (heterosexual vaginal intercourse) in some cases,

Not all girls with CAH have masculinized genitalia and only a fraction of those that do will need surgery
Surgical reconstruction of ambiguous genitalia is for the most part “cosmetic” & not “medically necessary”
Ambiguous genitalia do not cause physiological problems nor do they increase psychosocial risk
Surgery has its own risks including decreased sexual sensation and function, suboptimal cosmetic results and psychological trauma to little girls who may need repeat procedures and/or physical therapy
Evidence exists that people with ambiguous genitalia do just as well as those who are surgically “corrected”
Strong evidence of heterosexist bias and agenda exists. Homosexuality and gender nonconformity are not medical problems, not easily measured and not a subject of published studies. However statements made to the contrary include:

Dr Maria New: “The overall objective is to fill the gap of knowledge about the long-term consequences of early-prenatal DEX treatment on childhood development on the one hand, and the success of DEX in suppressing behavioral masculinization in the sub-sample of girls with definitive congenital adrenal hyperplasia on the other.”
Dr Maria New: “The spectrum of behavioral effects ranges from mild or marked tomboyish behavior of childhood to increased adolescent/adult bisexuality and lesbianism; through full male identification with request for sex reassignment surgery and legal gender change in adolescence or adulthood… Preventive prenatal [DEX] exposure is expected to improve this situation.”
Dr Maria New: “The challenge here is […] to see what could be done to restore this baby to the normal female appearance which would be compatible with her parents presenting her as a girl, with her eventually becoming somebody’s wife, and having normal sexual development, and becoming a mother.”
Ms Amber Vos: “This therapy helps affected girls to avoid the psychological stress of ambiguous genitalia and the risks of reconstructive surgery, increases the likelihood of heterosexual behavior, and likely helps to preserve fertility.”

The rebuttal

Dr Maria New: “All of my studies have been conducted under IRB approval. I have also received permission from the FDA to administer [DEX] prenatally.”
Dr Laurence McCullough: “At this low dose, DEX does not have teratogenic potential, and furthermore, because the therapy does not begin until just before the ninth week of gestation, organogenesis of the major organs has been completed.”
Dr Laurence McCullough: “The short-term outcome of preventing genital ambiguity in the affected female is 100% effective, provided that the pregnant woman is compliant and the [DEX] is administered properly.”
Dr Laurence McCullough: “To date more than 800 fetuses have been diagnosed by genetic analysis of fetal tissue worldwide, so that in many countries, including the United States, prenatal diagnosis and treatment has become the standard of care.”
Dr Maria New: “The surgical treatment of genital ambiguity has not been studied as well as prenatal treatment with DEX for CAH.”
Dr Maria New: “I have no interest in preventing lesbianism or homosexuality nor have I ever proposed it.”

Standard of care

In 2010 The Endocrine Society Clinical Guidelines Subcommittee Task Force published the following opinions & recommendations concerning the prenatal treatment of CAH:

Treatment is directed toward reducing need for surgery rather than toward preserving life or intellectual capacity
Treatment remains controversial
Treatment should continue to be regarded as experimental
“Therefore, in validating earlier expert opinion, this Task Force placed a higher value on preventing unnecessary prenatal exposure of mother and fetus to [DEX] and avoiding potential harms associated with this exposure and a relatively lower value on minimizing the emotional toll of ambiguous genitalia on parents and patients.”

Summary

In closing, I would like to echo the words of Dr Elizabeth Reis, PhD:

References

Auyeung B. Baron-Cohen S. Ashwin E. Knickmeyer R. Taylor K. Hackett G. Fetal testosterone and autistic traits. British Journal of Psychology. 100(Pt 1):1-22, 2009 Feb.
David M. Forest MG. Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. Journal of Pediatrics. 105(5):799-803, 1984 Nov.
Dreger A. welcome to fetaldex.org. Available at http://www.fetaldex.org/. Retrieved 4/11/11.
Elton C. A prenatal treatment raises questions of medical ethics. TIME. Available at http://www.time.com/time/health/article/0,8599,1996453,00.html. Retrieved 4/12/11.
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Testosterone and autism

January 3, 2011 James Pate, MD, FACOG 8 Comments

Dear Dr Pate,

My name is M, a cisgender gay man, and I am married to Y, a transgender gay man. Y has currently stopped his testosterone shots after 3 years, and we are planning a pregnancy in the near future.

I came across your name in your blog, and in several posts made by transman who are in a similar position to me and my partner. I was hoping you could assist us with our major questions, since we live in Israel, and most MD’s, OBGYN’s and other medical personnel here do not have any experience with transman fertility and pregnancy.

Since Y’s period has returned very quickly (after only one month without testosterone), our major concern at this time is on the prospect of having a healthy baby after 3 years of high-dosage testosterone treatment (250mg every 2/3 weeks). We have come across several stories of transman who got pregnant after using testosterone for some time, and there seems to be a high percentage of autistic children born that way (3/4 out of 8 stories we found, with the rest all under 3 years old – so we assume no conclusive diagnosis could be reached). In addition, we could not find any information about the effects testosterone usage has on the ova, and the chances it could cause mutations or other problems (since Y did not have a period for almost 3 years).

Do you have any information regarding these issues that we bring to our doctors for consultation? Any assistance would be appreciated, since we are currently considering giving up on the pregnancy because of that…

Thank you very much for your help 🙂

Dear M,

Thank you for your excellent questions. Congratulations also on your plans to become fathers. Being a father changes you for the better and I am so grateful to be one myself.

I have identified the the following questions from your letter:

What is the prospect of having a healthy baby after 3 years of high-dosage testosterone treatment?
Is there an increased risk of having an autistic child as a result of prior testosterone use?
What are the effects of testosterone on the ova (egg cells in the ovaries)? Can it cause mutations or other negative problems?

Your question about the relationship between testosterone and autism is complicated in that the diagnostic criteria has changed over time, its cause is unknown and there is no published data on transmen who father children much less those who father autistic children. That said, I have scoured the literature and will do my best to answer your questions to the limits of current scientific findings. I will do this in two ways. In “Short & Sweet” I will answer your questions as succinctly as possible and “Nitty Gritty” will probably give you more info than you care to know. All references will follow below. Thanks again for writing and good luck to you as you plan to enlarge your family.

Sincerely,

James Pate, MD
https://jamespatemd.com/

SHORT & SWEET

1. What is the prospect of having a healthy baby after 3 years of high-dosage testosterone treatment?

The most important determinants in whether or not you will have a healthy baby are the age of the ovaries, genetic predispositions, drug exposures and healthy living.

DNA is packaged into chromosomes of which humans have 46, 23 from each parent. Each chromosome has thousands of genes which form the blueprint for making and sustaining life. Unlike sperm, eggs have a long shelf life and do not get replaced when they run out. Babies with ovaries already have all the eggs their body will ever have. As they age their eggs age too and the risk for chromosomal errors continues to climb. The most common chromosome error is Down Syndrome and is a result of having an extra chromosome #21. While the risk for having a child with Down Syndrome is only 1 in 1667 for a 20 year-old, this risk rises to 1 in 385 for a 35 year-old and 1 in 106 for a 40 year-old.

We all have 2 copies of our genes. Many of us carry mutant copies that are compensated by having paired normal genes that can do all the work necessary. Individuals with 2 mutant genes will have disease, such as Tay-Sachs, cystic fibrosis or sickle cell anemia. These disorders are called recessive because you must have 2 bad genes for disease to be present. Some genes are so essential that you need to have 2 working copies to prevent disease. These disorders are called dominant because you only need 1 bad gene to have the disease. Examples of this are Huntington Disease and neurofibromatosis. The best way to find out if you have an increased risk of having a child with a genetic disease is to see a genetic counselor who will help you to review your family tree and calculate your unique risk.

Drugs including alcohol, nicotine, street drugs and pharmaceutical drugs can all impact the health of a developing baby. As much of the fetal organ formation occurs within the first 3 months of pregnancy, it is very important to stop smoking, drinking and using recreational drugs prior to becoming pregnant. You should also start taking a prenatal vitamin with extra folate (aka folic acid) and review your medications with your doctor.

Both testosterone and estrogen are present in all humans in varying amounts. They are very similar structurally and can be readily converted from one to the other by a single enzyme, aromatase. Depending on which type of testosterone you are using, it can take as long as 6 weeks for your body to get rid of it. The major risk to a pregnancy with elevated levels of androgens like testosterone is the masculinization of a baby’s female external genitalia and brain with potential social, sexual and gender identity consequences. The effect on males appears to be blunted as male fetuses are able to compensate and maintain their total testosterone exposure within normal limits. In conclusion, testosterone should be discontinued at least 6 weeks prior to pregnancy in order to prevent its negative effects on a potentially female fetus.

2. Is there an increased risk of having an autistic child as a result of prior testosterone use?

The cause of autism remains unknown and there is no evidence to suggest that prior testosterone use increases your risk for having a child with autism. However, there have been some interesting findings that may implicate continuous exposure of elevated testosterone levels as a factor in its development.

First of all, let’s review some facts about autism. Autism is a clinical diagnosis given to a child after evaluation by a physician if s/he meets criteria however there is no blood or genetic test to confirm or refute a diagnosis. The definition of autism has changed over time and is now felt to be a part of spectrum. Current thinking is to place the typical female brain on one end of the spectrum, the typical male brain in the middle, Asperger syndrome next and autism on the other end. Thus autism can be thought of as an “extreme male brain” disorder. Evidence to support this includes the fact that autism effects 4 boys to every girl and Asperger syndrome is 8 to 1. Additionally women with congenital adrenal hyperplasia, who were exposed to elevated prenatal levels of androgens, have increased autistic traits. However, high levels of prenatal testosterone alone does NOT invariably result in autism.

3. What are the effects of testosterone on the ova (egg cells in the ovaries)? Can it cause mutations or other negative problems?

Testosterone is not known to cause mutations in egg cells. High levels of circulating androgens have been associated with polycystic ovarian syndrome (PCOS), infertility and cancers of the breast, ovary and uterus.

NITTY GRITTY

Autism spectrum disorders (ASD)

Prevalence is 1 in 100 to 200 people.
The typical female has a strong desire to empathize (to identify and respond appropriately to another person’s emotions and thoughts).
The typical male has a strong desire to systemize (to analyze and construct rule-based systems).
Individuals with ASD have a stronger desire to systemize than to empathize.

Autism

Impaired communication.
Impaired reciprocal social interaction and formation of social relationships.
Repetitive stereotyped patterns of behaviors and unusually narrow interests.
Diagnosis is difficult to make before 18 months of age and is usually made after age 3.
Sex ratio of 4:1 (male to female).
Worldwide prevalence is 4 to 58.7 per 10,000.
Between 6-10% of children with autism have a medical condition that may have led to autism. Medical conditions associated with autism are epilepsy, fragile X syndrome, tuberous sclerosis, cerebral palsy, phenylketonuria, neurofibromatosis, Down syndrome, congenital rubella and hearing and visual impairments.
Compared to the general population, women with autism have higher rates of PCOS, male-pattern body hair growth, bisexuality or asexuality, delayed onset of menses, irregular and painful menses, severe acne, tomboyism, gender identity disorder, transsexualism and family history of cancers of the breast, ovary, uterus and prostate.

Asperger syndrome

Introduced as a diagnosis in 1992.
Has normal IQ and does not have delayed language development.
Sex ratio of 9:1 (male to female).

Prenatal testosterone

Gestational week 6: the Sry gene on the Y chromosome initiates testicular differentiation of the fetal gonad.
Gestational week 8: Leydig cells of the testis are capable of testosterone synthesis.
Testosterone surges occur between weeks 8-24 of gestation (males 249 ng/dL and females 29 ng/dL) and between 0-6 months after birth (males 200 ng/dL) suggesting that these are the critical periods of hormonal influence. Testosterone surges again for males during puberty with levels 200-300 ng/dL.

In the brain

Affects the anatomy of the brain including the hypothalamus, limbic system and neocortex.
Permanently inhibits the growth of certain areas of the left hemisphere and facilitates the growth of the same areas in the right hemisphere in the developing fetus.
The human bed nucleus of the stria terminalis (BSTc) is sexually dimorphic in size and neuron number (larger in women than men). MTF individuals have BSTc comparable to cis-gendered females while FTMs compare with cis-gendered males.

2D:4D finger ratio

Defined as the length of the 2nd digit (the pointer finger) divided by the length of the 4th digit (the ring finger). Measurements can be made from photocopies of the palm measuring from the proximal crease of the base of the finger to the fingertip.
It was recognized as sexually dimorphic (lower in men than in women) as early as the year 1888 and is purported to be a maker for prenatal androgen exposure.
Development of the bones of the hand are governed by the Hox/Homeobox genes which respond to androgens like testosterone. This process begins as early as the 9th week of gestation and becomes more marked with time. Relative finger growth may not be complete until adolescence.
Increased androgen exposure results in elongation of the 4th digit relative to the 2nd digit and thus a lower 2D:4D ratio.
Children with Asperger syndrome and autism have lower 2D:4D ratios than average, so thus families with lower 2D:4D ratios may have an increased risk for children with autism. However, high levels of prenatal testosterone does NOT invariably result in autism.

Polycystic ovarian syndrome (PCOS)

Associated with irregular or absent menstrual cycles, male-pattern body hair growth and hair loss, insulin resistance, diabetes and hypertension.
Affects 5-10% of women and is the most common endocrine disorder among women of reproductive age.
Animal studies have shown that prenatal exposure of excess androgens results in PCOS, insulin resistance (pre-diabetes) and hypertension.
Testosterone levels in umbilical vein blood of female infants born to mothers with PCOS are raised to male levels. Thus PCOS pregnancies have a hyperandrogenic in-utero environment.
FTM individuals have rates of PCOS twice as high as the general population.
Women with autism have higher rates of PCOS than the average population.

Congenital adrenal hyperplasia (CAH)

A genetic disorder that causes excess adrenal androgen production and results in varying degrees of virilization of external genitalia.
Incidence is 1 in 14,500 live births.

In general, girls exposed to high levels of prenatal androgens show

Male-typical childhood play including preference for boys’ toys.
Traits of autism including low measures of empathy and need for intimacy.
Male-typical interests as adolescents.
Little interest in infants, marriage, motherhood, “feminine” appearance.
Masculinization of performance in spatial orientation, visualization, targeting, personality and cognitive abilities.
1/3 are lesbian, bisexual or queer.
3-5% indicate a desire to live as males.

In general, CAH males

Resemble other males with respect to play patterns and interests.
Have normal prenatal androgen levels by inhibition of androgen production from the testes.

Complete androgen insensitivity syndrome (CAIS)

X-linked disorder (only affects genetic males).
Lack functional androgen receptors.
Genetic males are phenotypically female.
Share the same sex-typed behaviors, gender identity and sexual orientation as genetic women.
Prevalence is 1 in 20,000 to 1 in 60,000 live genetic male births.

Genetic males with congenital ambiguous genitalia

May be surgically assigned to female sex at birth.
Have more male-typical play patterns and interests than control girls.
Girls with prenatal exposure to synthetic sex hormones
More likely to exhibit male-typical childhood play, behavior and interests.
More likely to report use of physical aggression in conflict situations.

Discrimination against LGBTQI parenting

There is no evidence to suggest that LGBTQI individuals are inherently incompetent to parent nor is there evidence of harm to offspring.
In 2006 the American Society for Reproductive Medicine (ASRM) issued an ethics advisory that urged its members to not discriminate against patients by sexual orientation.
In 2008 the California Supreme Court found that a fertility clinic had violated the state’s anti-discrimination law by refusing to inseminate a lesbian patient.
The American Medical Association (AMA) rejects health insurance discrimination based on gender identity and recommends that insurers cover the treatment of Gender Identity Disorder (GID).

What to expect from your providers

Proper noun and pronoun usage (ie “dad” not “mom”, “what are your plans for feeding the baby?” not “will you breastfeed?”).
A review of privacy issues and/or creation of a formal policies when warranted
No information provided over the phone.
Written medical records kept in the patient’s room.
Aliases for patient and baby if requested.
The public relations dept should be the media’s only contact.
Security officer to prevent unauthorized entry or to provide escort services.
Additional staffing if needed.
Transfer family to another unit if desired.
Lactation support for either parent if desired.

Possible future reproductive technologies for LGBTQI individuals

Male pregnancy could theoretically occur if the embryo implants on the intestine as this has indeed occurred in a few women.
Researchers have transplanted vagina-uterus-ovary units in rats however there has not been a successful similar transplant in humans.

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