It's time to recognize biological complexity in sex

I’m going to address some tough subjects today. And I’m going to use anatomically correct language. If that’s too much I understand if this post isn’t for everyone. But I hope you give it a try. I really feel like this is an important thing. I've written about it before but it's time to be a little more pointed and direct. 

So to set the first expectation, let's look at our civics and specifically our branches of government and their roles. A legislature defines the language of the statute and the laws themselves. Executives enact and enforce the laws. Courts answer specific questions and cases about the law in relation to other laws and precedent. That’s the system. Federally and at the state level. 

I bring this up because in our state houses of legislation things are happening. We need to look at what's being brought forward on the floor and what's informing the rationale behind in. 

Looking here at home the Washington state GOP adopted a platform with this position:

"We believe laws and regulations which pertain to males and females should be based on genetics and biology rather than one’s individual state of mind. Biological males should not be allowed to compete in sports as females. We oppose providing minors with any gender-transitioning drugs, surgeries, or procedures. 

We oppose special legal privileges or protection based on sexual orientation or gender identity."

Now I'm going to be as generous as possible and believe this is specifically directed at teen gender transitioning and the current discussion regarding transgender athletes. I believe that there can be discussion over what athletes should compete in which league and category. I believed there can be a good faith discussion about youth transition and gender affirming care. I personally support a person’s right to transition. But I can understand some good faith arguments to the contrary. Disagree vehemently, but understand. 

The problem I see is that the way this position is written will effect intersex individuals and their specific healthcare. Any pursued legislation needs to address that complexity. A complexity I'm going to break down a little bit now. This will be a longer post so thanks for hanging with me. 

So for the Washington GOP, I have a couple questions we need to address. 

How are we defining sex? Biologically and genetically; what does that mean? Karyotype? Genotype? Phenotype? Some amalgamative definition of them all?

Ok let's break down the terms we use on the medical/science side of things that add a little complexity to the discussion. Recognizing that as our knowledge grows the need to adjust our laws follow.

So those three words I'm going to discuss first are karyotype, genotype, and phenotype. When people say genetically or biologically they typically think of karyotype and genotype. Karyotype refers to a person's actual chromosomes. Genotype refers to a person's genetic makeup, often in reference to specific genes for specific traits. A person's phenotype is in reference to their observable characteristics. 

Most people think of biological sex as XY being male and XX being female with corresponding genders. The genotype and karyotype corresponding with sex and the phenotype corresponding with gender. That's fair. But there are exceptions to every rule. 

First not all have an XY or XX set of chromosomes. Some have just an X. Some have XXX. Some have XXY. Some have a mosaic of XY and XX chromosomes. 

That's just the genotypes. The karyotyping. 

 Now it may shock some people but phenotype and genotype don't always match well. There are factors that can cause discrepancies between what the genes tell the body to do and what the body does. What we see and even something as extreme as the presentation of one's genitals may not matching their chromosomes. For example there are XX men and XY women. Meaning a person born XY with a vagina and a person born with XX and having a penis. Then some ambiguity in between. Should they present as their sex genetically or as their phenotype? Sex and gender just don't always match. 

These discrepancies are all in an umbrella known as intersex or disorders of sexual development (DSDs). Some researchers put the entire intersex community at about 2% of the population. I'm not here to dispute them but to highlight the specific complexity of a few specific situations. I'm not an expert in the field and don't feel comfortable highlighting all of them. But I do have experience with a few conditions that I have done further research on. 

First we need to talk about the fact that most people do not do extensive genetic testing. It's too expensive and only indicated when medically necessary. Most of these conditions are therefore considered under reported. I was going to go through and look at rates but my stats skills aren't up to the task. Instead let's look at these conditions on how they present in the day to day. 

First condition. XXY karyotype. Also known as Klinefelter syndrome. Most people would still consider many of these patients male. But they have some ambiguous traits. Like gynecomastia. Enlarged breast tissue. Often small testes. Often infertile. Often very tall. 

Now for many people it's just a man with genetic challenges. It doesn't require much thought. 

What about someone with androgen insensitivity syndrome (AIS). Broken down into mild AIS (MAIS), partial AIS (PAIS), and complete (CAIS). A person with CAIS is a person with a XY karyotype and no outward male characteristics. Not even a penis, usually presents with a vaginal opening. How does that happen? 

As we develop in utero we all start out with the same characteristics. Depending on what hormones we're exposed to and what receptors and genes we have, we develop. For a person with CAIS they are exposed to androgens (male hormones) but lack the ability to respond to them. Meaning they will develop female genitalia outwardly and typically have undescended testes. As they grown there is a complete lack of body hair due to the lack of response to the androgens. Many do not get diagnosed until puberty due to the lack of a period. 

This one is trickier. If you go by genitalia you can declare someone a woman. If you go by chromosome they're not. And if it's not CAIS but MAIS or PAIS there can be more ambiguity.

Final one for now. XX male syndrome. This one is what it sounds like. Genetic anomalies result in a XX individual responding to androgens and having male sexual characteristics. Most commonly a penis, undifferentiated gonads or genitals, and testes. Often to continue proper puberty later in life male hormone (testosterone) therapy is often prescribed.  

And there are other conditions as well. 

It's complicated. And we need to address it as that.

I'm here because this matters to me. And not enough people discuss it. 

I have trans friends. I have known intersex people personally. I've addressed the needs of both groups of people as a healthcare and mental health provider in various roles. 

This matters. How we handle this moment will have lasting ramifications.

Laws have to be specific. And how we write these laws matters for the care we can render as healthcare providers, as mental health providers. It matters for not only what sports these individuals can participate in. But also the bathroom they are legally allowed to access. 

Let's take a hypothetical CAIS XY individual. They are 16 years old. Have undescended testes. A rudimentary vaginal opening. No body hair. And they just got taken to doctor for a lack of a period. Physical exam notes that genitals are atypical, so further testing is required. Up until this moment everyone has thought that this person was an XX female. But in a day or testing will confirm they are XY and will not respond to androgen hormonal treatment. What do we do? If it's just biological or genetic, does that mean we force them to live as a boy? Or do we continue to support them as a woman? Providing dilation therapy, possible plastic surgery, and the choice to leave or remove the testes (weighing hormone regulation vs cancer risks). If we can only confirm a birth gender, what's possible? 

That may be extreme but that's my point. The hard cases of law are on the margins and courts are becoming increasingly textualist. We have to have exceptions and carve outs. Or else we're failing people. 

See historically we haven't always got this right. And it's insanely complicated. Let's let doctors and patients discuss how to move forward. Let's give people the privacy to live a life that's much more challenging at times than our own. 

So if you're going to say sex and gender as biologically and genetically indicated, what do you mean?

I'd like to hear. Let's talk about it. Seriously send me a message. Respond to a post. I'm here to have a conversation. 

But at the least ask yourself this. 

Are we going to make it so that any karyotype with a Y chromosome is male? How will confirm for certain? Will we start karyotyping all babies? What about XY patients that are phenotypically female? What about a XX patient with a penis? 

These aren't easy questions. They shouldn't be. So let's get it right. 

It's not time for hyperbole or to kick the can down the road. It's time to address it now.  

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