What we wish doctors knew about us

If you are a doctor and consider yourself an expert in all things XXY, then it’s best to leave now because 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 usually because the medical community has mistreated us for several decades. We might be wary when we meet a doctor for the first time. We assess you as a potential doctor as you consider us a likely patient.

Please don’t assume that you are more knowledgeable by going to Medical School than those of us who live it. When you went to medical school, research done and given to you about XXY was smaller than a paragraph, and most of it was negative.

I need my doctor to keep an open mind. Their primary oath is not to harm. I expect them to be interested in new studies and educate themselves about the latest research in complex data and testimonials of XXY people. If I say testosterone is making me ill or if I ask for a trial of estrogen, please explain the outcome without judgment and based on my medical tests. Please respect that I know my body and am in sync with how I feel.

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

Avoid assumptions. Just because I 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 the virilising effects testosterone will have on my body and allow me to decide if I want to incorporate body and facial hair, male pattern baldness, and hyper sex drive into my being. When you consider any treatment or procedure, be sure also to tell me what will happen if I choose to do nothing.

Just because I choose to identify my gender as male and take testosterone does not cancel out any in-betweenness I might display. Testosterone does not change my genetics. Let me talk about how I experience the Intersex quality of my being in an open, non-judgmental place of safety. The most important aspect of life for all XXYs is appropriate medical care. Forcing them to limit their gender expression to male-only can harm their well-being.

Talk to me, not at me and not just about me with my parents. I can understand things if explained to me, and I can make decisions about my own body. Be honest with me. Ask permission to examine me so I know that you recognise my body and choice. Don’t speak in absolutes or tell me how I will turn out. Always remember that my needs come before the needs of my parents, my doctors and society. If you are unsure about my needs, please proceed cautiously, especially in areas that cannot be undone, such as 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 regarding treatment. Celebrate my successes with me. Ask me about my hopes, dreams, and plans. 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.

Qualities We Look For In a Doctor

  • Curiosity.
  • An ability to actively listen.
  • Someone who 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 optimal health.

Interview: David Cooke on 47XXY

Had he been practising some forty years ago, pediatric endocrinologist David Cooke’s profile of patients who are 47XXY would have differed sharply from today’s view. Then, late-adolescent boys would have comprised most of Cooke’s patients. Now, with amniocentesis and prenatal karyotyping more routine, however, Cooke, as the pediatric endocrinologist with the Johns Hopkins Klinefelter Syndrome Center, also sees far younger boys—babies, even—whose extra X chromosome signals the variation.

“Before puberty, there’s little that cries out, oh, this is a child with Klinefelter syndrome,” Cooke says. Nothing commonly sets the boys apart. If slightly weaker muscles or cognitive or social delays surface, he adds, they tend toward the low-end-of-normal. In mid-puberty the syndrome’s phenotype gains strength—luteinizing and follicle stimulating hormones rise above normal; plasma testosterone drops. Still, few early-teen boys know they have Klinefelter. The characteristic mildly enlarged breasts, sparse chest hair or tallness can seem unremarkable. Mid-puberty, however, opens a brief and perhaps critical window of opportunity to address adult problems that can follow. What prompts the “perhaps” is research’s lag in nailing down best practices, says Cooke.

Here he comments on current issues in treating and studying Klinefelter syndrome:

Androgen replacement therapy (ART) typically starts when a peri-pubertal XXY boy shows low testosterone, yes? That seems clear-cut.

Not quite. First, you need to know: Is testosterone truly low or is a patient just not yet in puberty? Clearly, puberty’s a moving target: Some start around age 10 with a testosterone level at 100 ng/dl that reaches 500 ng/dl by age 13. Others hover at a level near zero until into their teens. A physical exam helps decide, but it’s more clear if you follow the LH level. If LH exceeds the normal level seen in an adult male, then you know the body expects more testosterone than it’s getting.

And the benefits of ART?

In XXY adults, the benefits of testosterone therapy overwhelmingly relate to sexual health—normal libido, erections. Therapy also increases energy, muscle mass and strength. That’s true as well in XXY adolescent boys. But it can be hard to know what effects to expect in treating them.

Do you mean there are no data to show ART can bring these things about? Or is it that some of these benefits occur, but it’s difficult to predict which ones for a particular patient?

Both. I am not aware of any controlled trials that have studied testosterone treatment in boys with Kleinfelter. We know the effects of testosterone, for example, in boys or men who make no hormone if their testes completely fail from another cause. But adolescents with Kleinfelter make some testosterone. We can’t predict the effect of increasing levels from slightly low to mid-normal for a given patient. In general, no one knows the best approach for sure in testosterone therapy—when, optimally, to begin it, how long to treat, what dosage is best or if better options exist.

Some clinicians talk about low-dose testosterone before puberty.

Without evidence, I don’t know what to make of that.

Until research comes through, what do you offer to boys with Klinefelter during puberty?

Two things. Once LH levels rise above normal, ART should be considered. For some boys, this will be needed for lagging sexual characteristics. For other boys, we discuss what might be expected with ART and decide whether such treatment is appropriate. The other issue we address is fertility preservation. The approach to infertility in individuals with Klinefelter now includes consideration of harvesting sperm for storage at the earliest signs of testicular failure, and before starting testosterone treatment. This approach is felt to lead to greater success.

What is the most appropriate clinical setting for patients with Klinefelter Syndrome?

Because patients with KF vary widely in symptoms and biology, not surprisingly a multidisciplinary clinic offers the best diagnostics and therapeutics for these patients. Here at the Johns Hopkins Klinefelter Syndrome Center, we see both adult men and children with this not-uncommon chromosome anomaly—the only such dual centre in this country. Our staff include experts in pediatric and adult internal medicine and endocrinology, urologists who address infertility, a neuropsychologist skilled in treating cognitive or mood problems, speech therapists, genetic counsellors, and surgeons who specialize in male breast reduction. You really do need this type of centre to provide best practices care for these patients.