Podcasts: By The Chromodiversity Foundation

Photo by: Harry Cunningham

We think you will like this excellent podcast initiative by Elliot Polak, of My XXY – Chromodiversity Foundation that makes understanding research papers a great deal easier for those who yearn for information but fail to grasp the medical language they use. Elliot breaks it down into its raw form and goes to great lengths to ensure it is understood.

Air of Silence

High school photography teacher, Chris Somers, speaks with Phoebe Hart about their experience of XXY of being a child in high school, developing breasts and of the relentless teasing from peers that would eventually lead to Chris undergoing a double mastectomy, it being an experience they would later regret.

NHS in Disarray with Dispensing Hormones

Given the treatment of XXY individuals is (questionably) a sub speciality of Endocrinology it is envisaged that XXY’s regardless of how they identify their gender would be exposed to the same difficulties experienced by GD and Trans Individuals.

If you are an XXY individual we would love to hear of any difficulties you are experiencing with getting the care you believe you deserve, please comment below. Thanks.

Gender dysphoria can be difficult terrain for primary care doctors. Gender identity and gender dysphoria are not part of the GP curriculum. Patients face an average 18 month wait for specialist referral. And the NHS’s frontline doctors may bear the brunt of some patients’ distrust of a system that can’t cope with the current demand for services.

Specialist gender identity clinics (GICs) have seen referrals at least double over the five years to 2018, said James Palmer, medical director for specialised services at NHS England. As of 2019, about 7839 adults were waiting for a first appointment. Some 4000 young people are waiting for a specialist appointment.

Chris Preece, a GP in North Yorkshire, told The BMJ that the two year wait for patients to be seen by his local gender identity clinic puts pressure on GPs to provide bridging prescriptions for hormone treatment, even though they lack formal training in treating gender dysphoria.

General Medical Council guidance recommends that GPs consider prescribing hormone treatment to adult transgender patients who try to medicate themselves while awaiting specialist care. Preece says that waits can create “perverse incentives” for patients to buy hormones on the internet or elsewhere. Without training, and given the media controversies about trans care, Preece adds, many GPs “actively choose not to prescribe
[hormone treatments]—which protects us, but is unhelpful to the patient.”

Last year the Royal College of General Practitioners published a statement on caring for gender questioning and transgender patients. This says that long waits for patients to see a specialist are putting pressure on GPs to provide services beyond their remit and with limited access to specialist support if they do so. The college adds, “GPs should not be expected to fill the gaps in commissioned gender identity specialists and clinics.”

This month the Royal College of General Practitioners launched an e-learning course on gender variance this year.

A recent study by Anna Carlile, a sociologist at Goldsmiths University of London, investigated the experience of trans children and their parents in English healthcare. She told The BMJ that participants reported experiencing direct discrimination and being referred to by a previous name in GP surgeries and other clinical settings and believed that GPs “lack clinical and therapeutic knowledge,” particularly concerning the prescribing of drugs to delay puberty.

GPs are wary of prescribing without robust research into the outcomes and side effects of puberty blockers and cross sex hormones, and the co-occurrence of gender dysphoria and autism can complicate diagnosis and treatment. The UK has no nationally recognised training programme for gender identity healthcare, although there are apprenticeship training models in specialist clinics and guidelines from international professional bodies

Nearly two in five adult trans respondents to a large government survey reported dissatisfaction with NHS services related to their gender identity. Jane Fae of the charity Trans Media Watch, which campaigns for better media coverage of trans issues, says that many trans people now view GPs as “an obstruction to overcome.” Some trans groups, including Non
Binary London and Trans Forum UK, circulate lists of GPs they deem to be sympathetic or unsympathetic to requests for referrals to gender identity clinics or to prescribe treatments that patients have asked for.

Some areas in in the UK are showing signs of service reconfiguration. Cardiff’s new gender identity clinic has GPs on site. A model is being trialled in Manchester in which GPs work with gender identity clinics to improve their diagnostic skills. And the Royal College of Physicians intends to introduce a professional development programme for GPs about gender
identity this year.

NHS England, meanwhile, is considering a decentralised service for adults in which GPs can prescribe cross sex hormones without specialist involvement if they have sufficient expertise.

The royal college recommends that the GP curriculum should cover gender dysphoria and trans issues, that expanding specialist gender services be a priority, and that NHS IT systems be updated to record patients’ gender identity and trans status.

Preece would welcome such changes. “The hardest thing about being a GP is when you know that the service being offered to patients falls short of what you believe they need and deserve,” he says. “That chasm is at its greatest when dealing with patients with gender dysphoria.”

Continue reading……..

XXY Trailblazer Steps Up To The Podium

University of Central Florida associate lecturer Irene Pons  and her legal studies class are striving to help a Central Florida woman revise her birth certificate.

Why does Juleigh Mayfield need legal intervention in order to complete such an ordinary task?

Because her story isn’t so typical.

Neither Male or Female

Although Mayfield lived four decades of her life as a man, she was technically born intersex, meaning she possesses both male and female biological characteristics. Intersex is a naturally occurring variation, and while children are assigned a legal sex at birth, sometimes they later learn their gender does not match that selection.

According to InterACT Advocates for Intersex Youth, experts estimate that as many as 1.7 percent of people are born with intersex traits, which is about as common as being born with red hair.

At the age of 17, Mayfield was diagnosed 47, XXY with Klinefelter syndrome. 47, XXY is a genetic variation that results when a baby is born with an extra copy of the X chromosome. Klinefelter syndrome develops at puberty and has the potential to adversely affect genital growth, which can lead to a lower production of hormones.

For the next six years she took a high dosage of testosterone daily, but a prostate cancer scare forced Mayfield to stop the supplement.

At age 43, after experiencing a number of medical complications linked to her variation — including lupus, osteoporosis and a hysterectomy — doctors at the National Institute of Health advised her to take estrogen for a better quality of life.

“I said, ‘What if I go home and I don’t go on anything?’ Because I knew that the estrogen would  heighten all the feminine aspects of my life and cause a full transition,” Mayfield says. “And the doctor said, ‘We believe that if you go home and you do nothing, you’ll be dead in five years.’”

She chose the estrogen, the surgery and her life.

But with the decision to become female came a new set of issues.

Battle for a Birth Certificate

Her Alabama birth certificate list male and her former name, James Bradford Mayfield. In Alabama, a court order is needed to change the gender on a birth certificate, but there is no form or process available to obtain one. Without an updated birth certificate, Mayfield struggles with presenting legal documentation for things like loans, employment and updating her passport.

“It’s hard to understand that a piece of paper impacts so much of what we do,” Mayfield says.  “I travel a lot for advocacy, and I need to be able to say, ‘This is who I am.’ I don’t want to have to hide. Nobody should have to hide.”

A court order is needed to change the gender on a birth certificate, but there is no form or process available to obtain one.

So Pons, who maintains her certification as a lawyer, and her intercultural legal competence class offered to step in. Pons first met Mayfield in the 1990s when they both worked at Walt Disney World. She offered her services pro bono once she learned of Mayfield’s predicament.

First on the list was a legal name change. It was a simple process, and Pons was able to easily find a name change form on the court’s website.

A form for a gender change, however, didn’t seem to be available — anywhere. Pons’ class focuses on diversity and inclusion cases, and Mayfield’s case suddenly presented an opportunity to immerse the students in a real life example. Twenty one undergraduates found themselves with a very important new assignment: create a petition for a gender-marker change.

The team at The XXY Project offer our best wishes to Juleigh Amanda in achieving the recognition she so rightly deserves. God Speed!

Continue reading………

What We Would Like Doctors To Know About XXY

If you are a Doctor

And consider yourself an expert in all things XXY, then you will never learn anything about us. Adult XXY’s often have adversarial relationships with physicians. If you have a patient like that, don’t take it personally, it’s probably because the medical community has treated us so badly for the last several decades. When we meet a doctor for the first time, we might be wary. We are assessing you as a potential doctor as you are assessing us as a potential patient.

Don’t assume that by having gone to Medical School you are more educated than those of us who are XXY. When you went to medical school research surrounding XXY was smaller than a paragraph and most all of it was negative.

I need my doctor to keep an open mind. Their main oath is to do no harm thus I expect them to be interested in new studies on XXY and to educate themselves about the latest research both in hard data and testimonials of XXY people. This means if I say testosterone is making me ill or ask for a trial on estrogen, then please explain to me why or why not without judgement and based on my medical tests. Please respect that I know my body better than you and I am in tune with how I feel.

Remember I am a human being first and not a condition, disease, anomaly, freak or abnormality of nature. I am so much more than my chromosomes and my physical body parts. Care for my body, keep it healthy but don’t try to manipulate it or change it with hormones or surgery to how you think it should be without asking me first.

Avoid assumptions. Just because I may also have a phallus, don’t assume that the best solution is to cut off my breasts. Maybe my breasts are an intricate part of maintaining my inner sense of well-being.

I need my doctor to show me how to give a self-breast exam for breast cancer and teach me how often I should do this.

Take the time to explain to me the effects of virilising that testosterone will have on my body and allow me to decide if I want to incorporate body and facial hair, male pattern baldness, and a hyper sex drive into my being. When you are considering any treatment or procedure, be sure to also tell me what will happen if I choose to do nothing.

Just because I choose to identify as male and take testosterone does not mean I am no longer XXY or that my actual gender identity is any less multifaceted than before. Testosterone does not change my genes. Allow me to talk about how I experience the XXY quality of my being in an open, non-judgemental place of safety.

Allow me to talk about how I experience the XXY quality of my being in an open, non-judgemental place of safety.

XXY’s identify in all genders, inclusive of Male, Female, Non-Binary, to everything in between and beyond. The most important care you can afford an XXY individual is one that’s appropriate for them.

Talk to me, not at me and not just about me with my parents. I can understand things if they are explained to me, and I can make decisions about my own body. Be honest with me. When examining me, first ask for my permission so I know that you recognise it is my body and my choice.

Don’t speak in absolutes or tell me how I am going to turn out

Always remember that my needs come before the needs of my parents, my doctors, or society. If you are unsure about my needs, proceed with caution, especially in areas that cannot be undone, such as with a mastectomy.

Ask to see me without my parents always being in the room.

Allow me or my family to disagree about a particular treatment you wish to try. Be willing to be a part of a respectful negotiation process about any disagreements of treatment.

Celebrate my successes with me. Ask me about my hopes, dreams, and plans.

Don’t try to fix me with hormones or surgical intervention before I am old enough to understand.

Don’t fix my gender without helping me to understand who I am.

Don’t try to fix me with hormones or surgical intervention before I am old enough to understand. Wait until I am old enough to make my own decisions about my body and my identity.

Things I look for in a doctor

  • Curiosity.
  • An ability to actively listen.
  • Provides cooperative healthcare as in co-relationship, not a doctor “doing” something to me, but a doctor working with me to help me achieve my optimum health.

 

 

Acceptance

An excerpt from a project by Barbi Gracner, reposted here with the kind permission of the author, someone whom we consider will one day shine a bright light on the rich diversity that is an XXY life.

Since childhood, we all learn to wear different masks. They grow with our skin. And it’s hard for us to determine who we are on the other side of the mask. What is mine in me, besides the expectations of others? And fear arises. What happens if I take off a mask?

I helped others, but I couldn’t help myself

I took off one of my masks when I knew that I am intersex. I was scared. I hated my androgynous body. I hated the world, which denied me, erased my non-binary identity, saying that there is only male and female. I tried to find another mask. Instead, I found the void.

And I decided to find other intersex people because I thought it could help me find my face through their faces. But it was a hoax.
Yes, I found the intersex community. I became an intersex activist. I helped others, but I couldn’t help myself. I didn’t find my face; I was disappointed. And I realized that I was always looking for it in the wrong place.

Love the beauty in yourself, and you can see this beauty in the world around you

Under the mask, there is always your own face. It takes courage to admit it, accept and love. Love the beauty in yourself, and you can see this beauty in the world around you. It is difficult to help others if you don’t have love in yourself.

So, I just started my journey …

Thanks to everyone who is in my heart, despite the distance separating us.

New Mutations Appear in the Sperm and Eggs of Parents

Although long established how age can play a part in the creation of sex variants, researchers have always refrained from blaming either parent outright insisting instead on a 50/50 approach (it keeps marriages together). But now it seems there’s a third possibility, that of the fetus itself .

What if sex chromosome variants weren’t the anomalies doctors believed them out to be, and instead were essential elements of life? It certainly seems rational, even more so when we consider sex chromosome variants are not limited to humans alone but exist and thrive among all other life forms. It’s we humans who insist diversity is broken and do our utmost to eradicate it!

Humans receive half of their DNA from each of their parents. However, this inherited DNA is not identical to the corresponding half of the parents’ genetic material. Instead, both the egg and the sperm that combine to generate an embryo carry so-called ‘germline de novo’ mutations that are not present in the rest of the parents’ cells. Although these de novo mutations are an important source of genetic diversity, they can also cause disease.

Geneticists have a longstanding interest in how, when and at what rate germline de novo mutations arise. These questions are commonly addressed by analyzing the DNA of large cohorts of two-generation families. Now, Sasani et al. have used the genetic data of 33 families in Utah, United States, which all span three generations, to determine the rate at which de novo mutations appear.

The analysis revealed that, on average, each person has around 70 de novo mutations that were not present in their parent’s genetic code. Sasani et al. also found that sperm and egg cells from older parents typically contain more de novo mutations. However, this effect varied substantially across the Utah families. In some families, an increase of one year in the parents’ age resulted in over three extra de novo mutations in their children. In others, the number of new mutations barely increased at all.

In addition, Sasani et al. found that almost 10% of de novo mutations do not occur in the parents’ sperm or eggs, but happen in the embryo very soon after fertilization. These mutations can lead to ‘mosaicism’, resulting in a person having a mutation in some, but not all of their organs and tissues. In some cases, this could cause an unknown number of sperm and egg cells to carry a mutation that others do not. This makes it hard to predict how likely two or more siblings are to inherit the mutation.

This analysis reveals that parental age affects the number of de novo mutations in children, but this effect changes from family to family. This finding could point to genetic or environmental factors that alter the human mutation rate.

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New DNA ‘clock’ could help measure development in young children

Scientists have developed a molecular “clock” that could reshape how paediatricians measure and monitor childhood growth and potentially allow for an earlier diagnosis of life-altering development disorders.

The research, published this week in PNAS, (Full Study) describes how the addition of chemical tags to DNA over time can potentially be used to screen for developmental differences and health problems in children.

The study was led by researchers at BC Children’s Hospital, the University of British Columbia (UBC) and the University of California, Los Angeles. It is the first study to describe a method specifically designed for children, called the Paediatric-Buccal-Epigenetic (PedBE) clock, which measures chemical changes to determine the biological age of a child’s DNA.

Small chemical changes to DNA, known as epigenetic changes, alter how genes are expressed in certain tissues and cells. Some of these changes happen as a person ages and others may be in response to a person’s environment or life experiences.

Steve Horvath presents research on: Universal Epigenetic Aging Clock

In adults, these patterns of epigenetic changes are well established. They can be used to accurately predict a person’s age from a DNA sample or, if a person’s epigenetic age differs from their actual age, it can point differences in health, including age-related diseases and early mortality.

“We have a good idea how these DNA changes occur in adults, but until now we didn’t have a tool that was specific for children,” says Dr. Michael Kobor, senior author of study. “These DNA changes occur at very different rates in kids and so we adapted this technique for younger ages.”

“This powerful and easy-to-use tool could be used by clinicians to identify why some children aren’t meeting early milestones and potentially diagnose children with developmental disorders earlier in life, this would enable doctors and paediatricians to intervene sooner in a child’s life leading to better outcomes for kids.”

Dr. Lisa McEwen, first author on the study

Kobor is an investigator at BC Children’s Hospital and the Centre for Molecular Medicine and Therapeutics, a professor in the Department of Medical Genetics at the University of British Columbia, the Tier 1 Canada Research Chair in Social Epigenetics and the Sunny Hill BC Leadership Chair in Child Development.

The PedBE clock was developed using DNA methylation profiles from 1,032 healthy children whose ages ranged from a few weeks old to 20 years. The researchers found 94 different sites in the genome that, when tested together, could accurately predict a child’s age to within about four months. The team also found that children who spent longer in the womb showed an accelerated rate of DNA change by three months, demonstrating that this tool could be used to indicate an infant’s developmental stage. The analysis can be done cheaply and efficiently on cells collected from a cheek swab.

Continue reading…….

Sex-by-Sequencing Reveals the First Two Species of Marine Mammals with XXY Chromosomes

Anthony L. Einfeldt, Dara N. Orbach, and Laura J. Feyrer
Department of Biology, Dalhousie University, 1355 Oxford Street, Halifax, Nova Scotia B3H 4J1, Canada (ALE, DNO, LJF)

Clinicians refer to human XXY’s as XXY Males or more frequently ‘People with Klinefelter’s Syndrome (they say only males can have Klinefelter’s as it denotes a disease of the testes, though oddly KS is not always present among XXY’s) Yet for as long as they have known about XXY “Males” they have also known about XXY Females, those who are phenotypically female but have never publicly acknowledged their existence. Instead they refer to XXY Females as XY females (AIS girls) and talk of their Y chromosome as being a non active SRY. But for the life of them, they have not been able to explain XXY’s who are phenotypical and genotypical females and who, like XX females who are also P+G are capable of conceiving children of their own. As more women become involved in science we are beginning to see life and it’s diversity for what it truly is.

We identified three specimens representing two different cetacean species that had external female morphological traits, Y chromosome haplotypes, and ratios of ZFX:ZFY haplotypes that were above the 1:1 value expected for genetic males. These results provide the first evidence of XXY aneuploidy in cetaceans. Investigation of the reproductive tract of one specimen, a True’s beaked whale (Mesoplodon mirus), revealed an intersex phenotype; despite having external characteristics typically diagnostic for the female sex, a penis and testes were present. Our results suggest that intersex phenotypes may be associated with XXY aneuploidy, and that this phenomenon may be underestimated due to it not being detectable by qualitative assays for determining sex

These results provide the first evidence of XXY aneuploidy in cetaceans. Investigation of the reproductive tract of one specimen, a True’s beaked whale (Mesoplodon mirus), revealed an intersex phenotype; despite having external characteristics typically diagnostic for the female sex, a penis and testes were present. Our results suggest that intersex phenotypes may be associated with XXY aneuploidy, and that this phenomenon may be underestimated due to it not being detectable by qualitative assays for determining sex

When phenotypic information is available, discrepancies between molecular and morphological results for sex determination are typically attributed to human errors in field observations, sample labelling, or technical errors in molecular methods. This overlooks the possibility that apparently failed assays and mismatches between genotype and phenotype may be of biological importance

Genetic sex determination assays assume that individuals are either XY males or XX females, which can be false at the level of phenotype or genotype. At the phenotypic level, intersex individuals with gonads, sex hormones, or genitalia that do not conform to the definitions of male or female sex characteristics have been documented across a growing number of taxa, including fish, amphibians, reptiles, and mammals. In cetaceans, individuals with both male and female gonads or genital phenotypes have been identified in fin whales, and short-beaked common dolphins. There is little known about the developmental factors influencing these conditions, but phenotypic variations have previously been attributed to hormonal disturbance during early pregnancy and androgen expression failure.

At the genotypic level, individuals that are not strictly XX or XY have been genetically confirmed in many wild and domestic terrestrial mammals (e.g., horses, cats, dogs, tiger). Due in part to the difficulty of identifying and characterizing variations in sex chromosomes, the range of the diversity and effects on sexual phenotype are not well known. In humans, variation in copy number of sex-chromosome-linked genes can result from incomplete segregation (non-disjunction) during meiosis I, meiosis II, or post-zygotic mitosis, and the most common sex chromosome aneuploidy present in humans is the XXY genotype (Jacobs and Strong 1959. Individuals with this aneuploidy often exhibit male secondary sexual characteristics with some feminization, due to the presence of the testes-determining gene SRY. Mosaicism of multiple cell lines with different karyotypes occurs in ~15–20% of human XXY males, but is likely underestimated. In domesticated mammals, the majority of Y chromosome abnormalities are in mosaic form, with different cell types carrying different combinations of Y and X aneuploidies.

Establishment of non-invasive molecular methods to detect sex chromosome copy numbers would provide more sensitive, efficient, and
cost-effective means to understand the extent of sex chromosome anomalies in live animals and wild populations, reduce uncertainties regarding technical or human errors, and support investigations on the causes of atypical sexual development.

Two of the three anomalous individuals we detected were northern bottlenose whales. One individual was harvested during commercial whaling in 1971 in the Davis Strait, and had previously been identified as female based on melon form and genital phenotype characteristics by whalers. This individual had also been identified as female based on the absence of banding in a gel electrophoresis-based assay for the SRY gene as part of a study by Dalebout et al. (2006). However, electrophoresis-based sex assays are prone to Type II error, especially in old and highly degraded DNA, which may have led to incorrect sex genotyping when this individual was initially assayed. The second anomalous northern bottlenose whale was encountered during surveys in the Davis Strait in 2018. This individual was identified in the field as a juvenile female based on melon morphology.

The presence of a Y chromosome in both of these individuals is at odds with their externally female genotypes, and with most presence–absence-based sex assays would be attributed to observer or laboratory error. However, the high ZFX:ZFY ratios that we detected in both these individuals support an alternative hypothesis that these whales have XXY aneuploidy. This could explain the apparent mismatch between genotype and phenotype, as sex chromosome aneuploidies. Two of the three anomalous individuals we detected were northern bottlenose whales. One individual was harvested during commercial whaling in 1971 in the Davis Strait, and had previously been identified as female based on melon form and genital phenotype characteristics by whalers. This individual had also been identified as female based on the absence of banding in a gel electrophoresis-based assay for the SRY gene as part of a study by However, electrophoresis-based sex assays are prone to Type II error, especially in old and highly degraded DNA., which may have led to incorrect sex genotyping when this individual was initially assayed.

This could explain the apparent mismatch between genotype and phenotype, as sex chromosome aneuploidies in other mammals affect sexual development. Further testing of this hypothesis was not possible, as neither whale was available for morphological inspection, and direct observation of sex chromosomes requires fresh tissue undergoing meiosis.

The hypothesis that XXY aneuploidy is associated with an external female phenotype in beaked whales was supported by the third anomalous whale. This True’s beaked whale had external female characteristics, ZFX–ZFY and SRY genes, and a high ZFX:ZFY ratio. It stranded in the Magdalen Islands in 2017 and its reproductive tract was excised and preserved frozen. Despite having external traits that are typically sex-diagnostic for female cetaceans (two pronounced mammary slits and one long continuous urogenital slit), this individual had an intersex phenotype with internal traits typical of males (a penis, testes,and pelvic bones positioned at the crurae of the penis). While the phenomenon of mammary slits in male cetaceans has not to our knowledge been published in the scientific literature, we are aware of anecdotes of its occurrence in other cases. We suggest that it occurs infrequently, has not been well documented, and is worth considering whether other such individuals may be intersex.

The second anomalous northern bottlenose whale was encountered during surveys in the Davis Strait in 2018. This individual was identified in the field as a juvenile female based on melon morphology. The presence of a Y chromosome in both of these individuals is at odds with their externally female genotypes, and with most presence–absence-based sex assays would be attributed to observer or laboratory error. However, the high ZFX:ZFY ratios that we detected in both these individuals support an alternative hypothesis that these whales have XXY aneuploidy.

Continue reading……