May 152017
 

The term intersex is synonymous with differences/disorders of sexual development (DSD). We are taught in grade school that men have XY chromosomes and have a penis and testicles. Women are XX and have a vagina and uterus. And some go so far as to claim that those two sexes are the only human sexes. Well, they’re wrong. People with DSDs or who are intersex are those whose biological sex is different in some way.

Obviously, human embryology is complicated. But here’s a simplified summary. As embryos we’re all the same. Our gonads are the same blobs of tissue. The genital tubercle, a lump of tissue with a fancy name, can become either a penis or a clitoris. With testosterone and working testosterone receptors, the tubercle grows and becomes a penis. Likewise, the gonads become testicles. Without testosterone and working receptors, those structures become a clitoris and ovaries.

What are intersex medical conditions?
A roman fresco of Pan and Hermaphroditus, found in Pompeii. Hermaphroditus was the origin for the term "hermaphrodite", which is an old and no longer used medical term for intersex/DSD individuals

A roman fresco of Pan and Hermaphroditus, found in Pompeii. Hermaphroditus was the origin for the term “hermaphrodite”, which is an old and no longer used medical term for intersex/DSD individuals

Here are two examples of intersex/DSD medical conditions.

An individual can have XY chromosomes, have testosterone, but have testosterone receptors that don’t work. Without working receptors, their body develops along the “female” path. They have a vulva, vagina, and clitoris. They also have testicles inside. This is called Androgen Insensitivity Syndrome (AIS).

AIS can be “complete”, where the receptors don’t work at all. Or it can be “incomplete” where the receptors work a little, and the person has a more mixed biological picture. Individuals with AIS often present and think of themselves as female. They may not even know they have AIS until they don’t have periods or try to get pregnant.

On the other hand, an individual can have XX chromosomes and have hyper-active adrenal glands. The adrenal glands sit on top of the kidneys and produce a lot of different hormones. That includes some sex hormones. So hyperactive adrenal glands means more testosterone. More testosterone means that genital tubercle becomes a penis and the labia become a scrotum. So the individual has a penis and scrotum, but has ovaries hidden inside. This is called Congenital Adrenal Hyperplasia (CAH).

Like AIS, CAH can be more “complete” with a fully developed penis and scrotum. CAH can also be “incomplete” with a mixed picture. Individuals with CAH often identify as female. Some do identify as male. Some forms of CAH are potentially fatal, since the adrenals also make hormones that change how salt is handled by the body. Individuals with that form of CAH, called “salt wasting”, need to take steroids lifelong. Today, we test infants for CAH at birth.

Other forms of intersex exist. However those are the two discussed in the paper. If you’re not familiar or comfortable with intersex terminology, it’s probably a fair place to start.

So what about this week’s paper?

This week is a paper published by Beale et al. They examined long term health outcomes in intersex individuals. Their paper summarizes the published research.

We don’t have a lot of data on long term health outcomes in intersex individuals. Physicians used to advocate for early surgery for infants and a gender assignment. Physicians feared that children would be confused if they knew they were intersex. So they recommended that the person not be told they were intersex. Then intersex adults spoke up.

Surgery for infants is no longer standard. Effective treatment of intersex children really only started in the 1960’s. It didn’t become patient-centered until much later. So we don’t have many older intersex people to study or listen to. But we are starting to collect data. Let’s look at what we have.

Congenital Adrenal Hyperplasia

People with CAH need to be on steroids life-long. The steroids keep the adrenal glands quiet. Without steroids, the adrenals go back to producing lots of testosterone. The person may become masculinized. And for some patients, the adrenals may produce too much of the hormones that balance salts and water. That is life-threatening. Consistent visits with a health care provider throughout their lifetime is important.

But we also know that steroids have their risks. Osteoporosis is one risk. So far, individuals with CAH do not appear to be at higher risk for osteoporosis. The other known risks for people with CAH are obesity, high blood pressure, and abnormal lipids (including high cholesterol). So far we don’t yet know if there’s a clinical impact yet. That is, we don’t know if people with CAH are at higher risk for heart attacks or strokes. Studies will continue to follow people with CAH to find out.

Individuals with CAH are able to get pregnant as long as they have a uterus. They do need higher doses of steroids during their pregnancy. Additionally, they may need psychological support through their lifetime. But their quality of life is similar to that of people with other adrenal conditions.

Androgen Insensitivity Syndrome

AIS does not have a long term need for medications like CAH does. However, there are risks associated with having testicles inside the human abdomen. Testicles like to be kept cool. That’s why they migrate to the scrotum. Individuals with AIS are infertile because of the warmth of the abdomen. And testicles that stay in the abdomen have a risk of developing cancer. For that reason, we advise people with AIS to have their gonads surgically removed.

Some people with AIS may choose to keep their gonads until they go through puberty. The testosterone that’s produced by the testicles gets converted to estrogen in their bodies. So they can have puberty without taking hormones. Keeping the gonads that long is a risk, though. People with AIS need to talk with a knowledgeable physician about gonad removal.

For people with AIS who have had their gonads removed, starting hormone replacement therapy is crucial. Sex hormones are needed for healthy bones. If they have a uterus they should receive both estrogen and progesterone. The progesterone protects the uterus from developing cancer. If they don’t have a uterus, they can take just estrogen. Remember – their testosterone receptors don’t work, so giving testosterone won’t help. Individuals with AIS can become pregnant through egg/sperm donation if they have a uterus. Otherwise they will need to adopt or use a surrogate.

Just as with CAH, psychological support for people with AIS may be crucial. AIS can also be diagnosed later in life than CAH, so making sure the patient knows their diagnosis and is supported during that time is important.

Conclusion

As with LGBT health, we just don’t know a lot about the long term health of people with intersex conditions. Long term risks of cancers like breast cancer, cardiovascular disease, and other diseases/disorders are unknown. Stay tuned, and I’ll continue to cover studies as they’re published.

What can you do with this information?

First — if you are an intersex individual or have been diagnosed with a DSD, I recommend joining a study. We need data. Second — find a doctor who treats you well. Keep them in the loop. See them regularly. Ask them questions. If you need to change doctors, make sure you have all your records. Third — take care of yourself. Eat well. Exercise Take your medications. Avoid or reduce drug use. And remember to breathe and enjoy life.

Want to read the study for yourself? The abstract is publicly available.

Mar 142016
 
Baby shower items! by Ana Fuji

Baby shower items! by Ana Fuji

A recent review of fertility preservation in trans and intersex people was published in the new journal Transgender Health. It’s a topic only briefly addressed previously on Open Minded Health (in trans 101 for trans people). Using the review as inspiration then, this week I’ll cover options and factors to consider when it comes to having biological children.

The basic technique in fertility treatments is the harvesting of sperm or eggs. Those sperm or eggs can then be frozen for later use or used for fertility treatments such as in vitro fertilization. For this to work, ovaries or testes have to be producing those eggs and sperm. This means the person has to be past their natal puberty and produce enough viable eggs and sperm that they can be harvested.

For transgender adults, sperm/eggs are best harvested before any hormones are taken. Hormones do reduce fertility, although they are not considered reliable enough to be used as birth control. The amount of estrogens or testosterone needed to have an impact on fertility is currently unknown, but it seems to be different for everyone. So your safest bet is to store egg/sperm before beginning hormones if you can afford it and if having a biological child in the future is important to you. Surgical removal of ovaries/uterus/testes does, of course, make a person sterile and unable to have future biological children.

Trans men who still have a uterus can carry a child but need to be off testosterone to do so as testosterone is harmful to fetal growth. Transgender women cannot carry children with current medicine.

Flowchart

A flowchart for fertility possibilities for trans youth — click to enlarge

For transgender youth it’s more complex. If the youth hasn’t gone through their natal puberty (e.g., for someone assigned female at birth that would be a female puberty) enough to have fertile sperm/eggs, then they have no sperm/eggs to harvest. Going from pre-puberty to puberty blockers to gender-appropriate hormone therapy means that, with today’s technology, there is no future fertility for the youth. If the youth has been on puberty blockers only, the blockers can be removed and the youth allowed to go far enough into natal puberty so that sperm/eggs can be harvested, and then transition. However going through natal puberty is often traumatic for trans youth, and may not be worth it for the youth. There are experimental options currently being used for children with cancer — taking ovarian or testicular tissue from the child and freezing it for future use. However it’s very experimental and I don’t know of anyone doing it for trans youth at this time.

With trans youth there is the added concern of ethical decision making. Children and adolescents cannot give informed consent. That’s the job of the parents or legal guardians. But their desires may clash with that of the youth, possibly causing harm. Depending on the family the question of fertility may or may not be problematic.

For intersex people or people with differences of sexual development, the effect on fertility depends on the specifics of the medical condition. But there are some larger concepts we can talk about. First — being intersex does not automatically mean a person has no fertility. Many of the intersex medical conditions do result in lower fertility. The potential treatment depends on what’s actually causing the low fertility.

  • If the ovary/testis itself is considered “abnormal” (e.g., a mosaic ovary), the effect on fertility is often failure of the ovary/testis. In this case, there’s little that modern medicine can do. The person can try the experimental preservation technique of harvesting and freezing ovarian/testicular tissue, but that’s an experimental technique.
  • If the root cause is hormonal (e.g., congenital adrenal hyperplasia), then it’s possible that sperm/eggs can be harvested. Hormonal treatment may also help fertility.
  • If the root cause is a higher risk of ovarian/testicular cancer, fertility preservation depends on whether the person is pre- or post- puberty. Treatment for an ovary/testicle that has a high risk of becoming cancerous is removal of that ovary/testicle. So if the person has already gone through puberty and is about to have the organ removed, sperm/eggs can be harvested before. If they are pre-pubertal, they can try the experimental technique of freezing the tissue.

Genetic counseling may also be useful for intersex people, as some differences of sexual development conditions are genetic and can be passed down to biological children. Intersex people should receive fertility counseling from physicians knowledgeable in their particular condition at as young an age as possible to maximize their options.

Lastly — never forget that having biological children isn’t the only way to have children. Adoption, fostering, and co-parenting are all wonderful things and are not any less valid ways to have children than having a biological one. If the laws in your state allow, consider adopting, fostering, or co-parenting.

Oct 262015
 

The science of transgender is still in its infancy, but evidence so far points to it being biological. Differences in brain have been seen, and I’ve covered them before here on OMH. However, genetic evidence is also being published! This week, let’s take a look at CYP17. CYP17 is a gene that makes enzymes that are part of sex hormone synthesis. Mutations in CYP17 have been noted in some intersex conditions, such as adrenal hyperplasia.

Now, there’s a SNP that’s been noticed in CYP17. SNPs are “single nucleotide polymorphisms”, which takes some explaining. SNPs are very, very tiny mutations in genes — just one letter in the DNA alphabet changes! SNPs don’t usually change the protein that the gene makes very much.

So we have this gene — CYP17, that is involved in making sex hormones. And we have this tiny mutation, this SNP. Now let’s look at the science!

Specifically, let’s look at this one study that was published back in 2008. They looked at the CYP17 gene in 102 trans women, 49 trans men, 756 cis men, and 915 cis women. They compared the CYP17 of trans women to cis men, and trans men to cis women. Unlike many studies, this comparison makes sense. We’re talking about the DNA in the genes here, not something that’s changed by hormonal status.

They found multiple things:

  • There was no difference between trans women and cis men
  • Trans men were more likely to have a SNP in their CYP17 than cis women were.
  • Cis men, trans women, and trans men all had the SNP more frequently than cis women

What does that mean?

We don’t know yet. But it does appear that CYP17 is a gene that it might be worth looking deeper into to find potential causes for transgender.

Want to read the study for yourself? The abstract is publicly available.

Jun 192015
 
One symbol for DSD

One symbol for DSD

The medical care of people with differences of sexual development (DSD) has changed significantly over recent decades. A difference of sexual development, also called disorder of sexual development or intersex condition, is a medical condition where there is some difference in the sexual development of the baby. The gonads and genitals of a baby may develop in a way that is different from the stereotypically male and female gonads and genitals (“ambiguous genitalia”, for example). Or the baby may have chromosomes other than XX or XY. Or they may be physically female but be XY. There are a large number of conditions that are folded under the title of “Differences of sexual development.”

So how did children used to be treated with DSD? The policy was one of secrecy and surgery. In order not to “confuse” the child about whether they were a boy or a girl, corrective surgery was used at a very early age. Children were often not told that they had a DSD. They took medications without knowing why they took them, or had surgeries without knowing why.

This was standard treatment until intersex people themselves started to speak up. They spoke of being taught to feel shame about their genitals. They spoke of pain and discomfort with sexual activities because of the genital surgeries. They spoke of being assigned the wrong sex. They spoke of the psychological distress of never having been told they had a difference of sex development.

And slowly medicine listened. Today, surgery is not recommended unless the life of an infant is at risk. Open communication is encouraged, and organizations such as the Accord Alliance exist now to support people with differences of sex development.

All of this history brings us to today’s study. D’Alberton et al investigated the quality of life and psychological health of women with DSD in Italy. They compared women with DSD to women without DSD, and they also compared older women with DSD to younger women with DSD to look for effects of the change in the way they were medically treated.

Who did they survey? 43 adult women with DSD, all of whom were genetically XY. Most (79%) had complete androgen insensitivity syndrome. By “women”, the authors mean people who were identified as female at birth and who have female gender identities. They were compared to 43 women without medical conditions, recruited from medical and nursing fields.

What did they measure? They used standardized surveys to measure psychosocial adjustment, quality of life, and depression/anxiety symptoms. They also asked demographic questions and medical questions.

What did they find?

Women with DSD had higher levels of employment and education than women without DSD. Women with DSD were also less likely to have a partner or children and more likely to be living with a parent than women without DSD. Overall quality of life was good for women with DSD. However women with DSD had higher levels of psychological distress (depression, anxiety) than women without DSD.

Younger women with DSD had lower levels of psychological distress than older women with DSD. The younger women were also told their diagnosis at an earlier age than the older women (11.6 vs 15). This suggests that the change in management has indeed made a difference.

Many women with DSD had a surgery. 74% of women with DSD had a gonadectomy (removal of the gonads). Some had additional surgeries, such as vaginal reconstruction. All the women who had gonadectomy were on hormone replacement therapy. There appears to be little standardization of hormone replacement for women with DSD. All the women with DSD in this study reported that they were comfortable with their female gender identity.

What were the limitations of the study? Mostly small sample size. And the sample was a bit of a convenience sample — they were drawn from support groups. The comparison sample was not representative of the average population either, being mostly nurses and medical students. However the authors did make an effort to compare to data from the average population where possible.

What does all this mean?

Overall, women with differences of sex development are doing fairly well. There wasn’t a lot of suicidality or low education or extremely high levels of distress in this group. But it does seem like there’s still work to be done. The finding that women with differences of sex development had higher levels of psychological distress is concerning. The authors recommend that all people with DSD, and their families, be offered psychological support and counseling. It’s a good place to start.

Interested in reading the study for yourself? The abstract is publicly available!

Mar 162015
 

170px-Rod_of_Asclepius2.svgBeing a gender or sexual minority (GSM) is not only difficulty and tricky for patients — it can also be a challenge for medical providers. Medicine can be a particularly conservative field, depending on location and specialty. Lives are, after all, often at stake.

Despite recent advances it appears that some 40% of lesbian, gay and bisexual medical students are hiding their sexual minority status in medical school. Among transgender medical students, 70% were hiding their identity. All because of fear of discrimination.

That fear has been, and still is, warranted. From medical providers transitioning and losing their practices, to medical students losing their residency slots, to LGBT health student organizations fighting to exist, LGBT providers face similar discrimination as our patients.  Similar happens for other gender and sexual minority health care providers, though we lack statistics. At a meeting of kink-identified mental health care providers, one attendee noted a high level of vulnerability for the clinicians. Being “outed” could lose them their jobs or even trigger legal action.

To some extent, discretion among health care providers is warranted. Most people don’t want to know about their clinician’s (or coworker’s) personal lives. And most GSM providers don’t actually want to share those most intimate details. It’s where the line is that can be distressing — how much information is too much? Can I discuss my wife when other women clinicians are discussing their husbands? How exactly do you notify your fellow clinicians or patients about a change in gender pronouns or name? How can a clinician use information gained from intimate encounters to help patients, without revealing too much? It’s a balance we constantly seek. Sometimes mentors are there and can help. Other times we figure it out as we go along.

Yet we bring a lot to the table, as minorities. Like many racial and ethnic minorities, there are pressures and issues that affect GSM people more than the majorities. We bring that knowledge with us to the research we choose to perform, the communities we participate in, and each and every patient encounter.

We as clinicians and future clinicians need to have the support in order to be appropriately open about our gender and sexual minority status. Our patients and clients must know they can be safe and honest with us so they can receive the most complete and respectful care possible.

Some progress has been made already. There’s an association for LGBT medical professionals. There’s an association for kink psychological research. There’s an association for transgender health. All of which allow student members and provide mentoring. Many other organizations exist too. Some US medical schools are working with their students to provide a safe and welcoming environment where these issues can be explored. The American Association of Medical Colleges recently launched a program to enhance education surrounding LGBT and intersex health care. The American Medical Association also has an LGBT Advisory committee.

I’m proud to say that my medical school has been accepting and supportive of its gender and sexual minority patients, and that clinics in the area of my medical school are seeking to expand their care to be more inclusive of LGBT patients. Support exists for both those seeking medical care, and those seeking to provide that care. It’s only the beginning.