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.

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!

Nov 142013
 
Amalia of Oldenburg, Queen Consort of Greece (1836-1862) had MRKHS

Amalia of Oldenburg, Queen Consort of Greece (1836-1862) had MRKHS

Summary: A study of people with Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Küster-Hauser Syndrome finds that lack of (sexual) self-confidence significantly affects sexual functioning.

I haven’t covered intersex issues much here on Open Minded Health, but they’re something I’ve been wanting to cover. So I jumped at the chance to review this article. Also a disclaimer: I haven’t had nearly as much contact with intersex communities as I have other communities. If I phrase something in an offensive way, it’s not intended so and I’d love to hear from you to alter my language.

Since I haven’t covered much intersex material here before, I want to take a quick moment here at the beginning to give some background. The term “intersex” is roughly synonymous with the diagnosis of “disorder of sex development”, but the term “intersex” is preferred (or so I understand) by people who are intersex. Intersex is a broad term, referring to any body which has an “unusual” biological sex, either found at birth or often at puberty. This could be chromosomal (e.g., XO or XXY chromosomes), or it could be a result of different hormones (e.g., androgen insensitivity), or just “ambiguous” genitals. “Ambiguous” genitals are genitals that are “in between” or can’t be distinguished as male or female.

Intersex people who have ambiguous, or otherwise unusual, genitals may have surgery done as infants or children to “correct” their genitals to either “male” or (more commonly) “female”. This is a highly controversial thing to do. Intersex adults, who had such surgeries, are now speaking out against the practice, citing lack of informed consent, mangled surgical results, and painful, impaired or nonexistent sexual ability.

Background

The research paper I’m going to talk about today covers people with two intersex conditions: Complete Androgen Insensitivity Syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS). Before I jump into the paper I want to define these diagnoses. I just want to note – since most people with CAIS and MRKHS do identify as women and the gender identity of participants in this study was not reported, for simplicity’s sake I’m going to use female pronouns here. This is not to erase people with CAIS or MRKHS who do not identify as women! It’s a linguistic short cut.

Complete Androgen Insensitivity Syndrome is when a fetus is XY (classically “male” chromosomes), but can’t process their testosterone. Their body makes testosterone, it just can’t use it — the receptors are a little quirky. As a result, the fetus develops along the default pathway – the female path. The baby develops labia and a clitoris. Her vagina may not develop fully, however. The baby has testes, not ovaries, but these are inside. Because she has testes, neither a uterus nor a cervix develop. People with CAIS are what’s called “phenotypically” female – there is nothing about their appearance which tells you they have CAIS. At puberty, a person with CAIS will not menstruate but she does develop breasts and an adult shape though potentially not pubic hair.

Mayer-Rokitansky-Küster-Hauser Syndrome happens in XX individuals, and it’s when the Müllerian system doesn’t develop. That means that while she has ovaries and external genitals, she doesn’t develop a uterus. Sometimes people with MRKHS also don’t develop the deepest part of their vagina, or a vagina at all. For women with either CAIS or MRKHS who did not develop a vagina, or did not develop a vagina fully, there are both surgical and nonsurgical options.

Because both CAIS and MRKHS affect the genitals and sex hormones of  those with the condition, and since some people with CAIS or MRKHS have genital surgery, it’s worth asking about their sexual health. That’s exactly what was done in this paper.

Participants, Methods

This was a German study, part of a larger project called “Androgens, Quality of Life and Femininity in People with Complete Androgen Insensitivity (CAIS), Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) and Polycystic Ovary Syndrome (PCOS)”. This was a cross-sectional survey study – the researchers identified potential participants and had them fill out a survey once.

60 adult women diagnosed with with CAIS (11) or MRKHS (49) were included in this analysis. Diagnosis was confirmed either by examination of medical records or through self-report of symptoms. Age varied between the women with CAIS (median = 39) and MRKHS (median = 22), and as might be expected so did the years of education. Half of the women with CAIS were in a relationship whereas roughly 3/4 of women with MRKHS were in a relationship. The vast majority of these relationships were opposite-sex relationships. A little over 1/3 of the women with CAIS had treatment to create a neovagina or deepen the vagina (dilation). Nearly all of the women with MRKHS (46/49) had such treatments, sometimes more than once. Control data was used from a previous study.

All of the women with CAIS had had their testes removed. This is a fairly standard treatment because of fears the testes could develop cancer. Most of the participants with CAIS were on hormone therapy as a result. Some participants with MRKHS (11) also used vaginal estrogen creams.

There was no overall difference between women with CAIS and women with MRKHS for satisfaction in vaginal depth. However when you look closer and compare participants who had vaginal treatments vs no treatment, it becomes clear that women with MRKHS who did not receive treatment were not satisfied.

Participants were asked to fill out the following questionnaires:

  • Female Sexual Function Index
  • Feelings of Inadequacy in Social and Sexual Situations Scale
  • Rosenberg Self-Esteem Scale
  • Brief Symptom Inventory, Depression scale only
  • Questions on sexual problems/dysfunctions, based on the DSM-IV-TR
  • Open-ended questions on the reasons for the participant’s sexual difficulties

Results, Conclusions, Discussion

There was no difference between people with CAIS, MRKHS and controls for the number of sexual problems. However, participants with CAIS were statistically less likely to be satisfied with their sex life than participants with MRKHS. Participants with CAIS were also far more likely to report difficulty initiating sex and fear of sexual problems. However when it came to other aspects of sexuality, such as orgasm frequency, pain during intercourse, or difficulties with arousal there was no difference between women with CAIS or MRKHS and the controls.

Scores on the Female Sexual Function Index suggest that women with CAIS/MRKHS has less sexual functioning than controls. Feelings of inadequacy in sexual situations was also higher in participants with CAIS or MRKHS. Self esteem was highest in women with MRKHS and lowest with women with CAIS when compared with controls. 22% of women with MRKHS and 54% of women with CAIS indicated no sexual contact in the past 4 weeks.

When it came to the open-ended questions, several themes emerged. Women with CAIS were concerned about interactions with their partners and not being “good enough” for their partner. Women with MRKHS also had concerns relating to their partners, but they also reported “difficulty of letting go during sexual activity”, fear of pain or injury, and physical difficulties relating to their vaginas.

Taken together, all these results fit together like puzzle pieces. From this study it appears that most of the sexual difficulties of women with CAIS are psychological, not necessarily physiological. The authors point out previous studies where women with CAIS reported that the impression of having an “abnormal” vagina was damaging to their self esteem. In addition, previous studies showed only good sexual functioning in women with CAIS, and the only factors in this study which showed as different from control were psychological. Women with MRKHS appeared to have more of a physical basis for sexual difficulties – .7% (6) of the sample had physical difficulties. But the psychological component is there too.

The authors comment “Although CAIS is barely perceptible to the naked eye, knowing about the XY-karyotype can severely affect the individual’s self-esteem and lead to even more pronounced insecurity in sexual contexts”. Absolutely, and I think that basic idea is applicable to most if not all intersex people and somewhat to transgender people too. If there’s something different about your sexual functioning, of course you’re going to be nervous and insecure…especially when that something is so heavily stigmatized!

Limitations include the usual ones. There are significant differences between the samples (age and education primarily), which could be associated with different opportunities for positive sexual exploration. The data is primarily self-report, which is always subject to bias and may be inaccurate. The sample sizes are relatively small, which potentially affects which differences could be statistically detected. As always, these results may or may not be generalizable. For example – American people with CAIS or MRKHS may have different psychosocial pressures than German people do. Same thing with the fact that the sample was largely heterosexual. Regardless, I don’t spot any areas of significant concern which lead me to doubt the validity of the results in this study. We just need it replicated and confirmed/not confirmed.

In their conclusion Fliegner et al make the argument for an interdisciplinary (i.e., including psychotherapy, sex therapy and other forms of psychosocial support) approach to treating people with CAIS or MRKHS. Sounds like a wonderful idea!

This paper was published in the Journal of Sexual Medicine. The abstract is publicly available.