I think I might be XXY

[Captain Talker]

I recently learned about Klinefelter syndrome, or XXY. When I read the Wikipedia article I was shocked to see how well it described me. I seem to match almost all the major symptoms: late sexual development and smaller genitals, gynecomastia, poor coordination, low upper body strength, learning disabilities relating to language when I was younger, etc. However some other symptoms don't match; for instance I'm pretty hairy and grow a decent beard, although I didn't have much hair at all until I was 16-17.

The thing that really makes me consider it though, is when I was 17 I saw a new family physician. After my examination and a discussion regarding my sexual history, he ordered a blood test for reasons that were not disclosed to me. A week later after the results came in he had a conversation with my parents behind closed doors. Then he had a conversation with me and told me that I had abnormally low levels of testosterone, and said that I could ask to take testosterone shots. However he described it in a very negative light, listing only a couple of positive effects, and some two dozen negative side effects. Coupled with my depression at the time making me unmotivated and afraid of change, I said that I didn't want the shots. There was no mention of XXY or Klinefelter, but I can't help but wonder if that information might have been withheld, for reasons of "normal psychosocial development".

Finding out about this condition has really mixed me up emotionally. I've struggled with gender identity before, and wondered if I might be trans, but when it comes down to it I just don't really feel like a woman. But I also have trouble relating to most men. Being XXY would make a lot of things I've gone through, both physically and mentally, make sense. But I don't want to convince myself of something that may not be the case.

I'd like to know where I can go to get karyotype testing, to find out for sure. I'm having financial troubles at the moment, and I'm worried that my insurance might not cover it. I don't know where to start really. Can anyone offer any guidance?

[Dena]

Any doctor should be able to get the test done as they only need a few drops of blood. I had the test run about 40 years ago because I thought I might be intersex but the results came back normal. Another thread talks about a more modern and costly test that didn't exist when mine was run but I am not sure it's worth it as I am happy now and I don't really need to know any more than that to know I was transsexual. The surgery cured me so it makes little difference if I am XXY, XXXY or just ordinary XY.

[Serenation]

You don't have to have all the symptoms. Some things certainly not right if you got offered testosterone. I don't think the tests would be covered by insurance, aren't in my country. Just getting your hormones tested would be a good start if you can't afford the dna test.

Can't get your childhood test results?

[buttertly]

Are you taller than both parents? By a lot?

And really skinny with a girly face.

[HughE]

Do you have some or all of the characteristics in this list?
* long, slender arms and legs
* a leg length that's significantly greater than the height of your upper body (the two should be about equal in men)
* an armspan 3cm or more greater than your height.
* sparse or very fine body hair
* a female "escutcheon" or pubic hair pattern (like an upside down triangle and confined to the pubic region)
* difficulty building upper body muscle
* feminine facial features and a generally feminine appearance (soft chubby features rather than hard muscular ones; gracile bone structure etc).
* gynecomastica
* other things such as female digit ratio (index finger equal to or longer than ring finger); absence of acne as a teenager; long, luxuriant eyelashes and comparatively small, high arched feet (in my case anyway).

These are all symptoms of hypogonadism (chronic below normal male testosterone production), and Klinefelters is the commonest genetic cause of it. If you have the bodily characteristics in that list, and haven't yet started HRT, you can gain a fair idea of whether it's due to klinefelters just from your blood work.

Scenario A. Your testosterone is low, but your LH and FSH are at or near the top of the range. This indicates primary hypogonadism, meaning that your testicles are physically unable to produce enough testosterone despite your brain telling them to do so. You probably have klinefelters.

Scenario B. Your testosterone is low, and your LH and FSH are low or low-normal too. This indicates secondary hypogonadism, which means your testicles are OK, but something has happened to your hypothalamus and/or pituitary (the brain regions that control hormones), so that they aren't producing enough of the signal that tell your testicles to do their thing. This rules out Klinefelter's as the explanation. There are certain rare genetic conditions (such as Kallman's syndrome) that can cause secondary hypogonadism, but IMHO if this is you, then by far the most likely explanation is that your mother was given pharmaceutical hormones (such as DES or progestins) while she was pregnant with you. These substances are manmade versions of the female hormones estradiol and progesterone. They cross the placenta, and appear to be able induce female brain development in biologically male fetuses (which manifests itself later in life as gender dysphoria, and often through the brain poorly controlling testosterone levels too).

There's a long thread about one of these drugs, an artificial estrogen called DES, here:
https://www.susans.org/forums/index.php/topic,84224.0.html

[Deborah]

What would it indicate if::

* My mother did use DES.  She told me.

* legs and arms both long.  Not excessively so but my legs are about 3 in longer than upper body.

* Sparse body hair.

* Pubic hair normal.

* muscle, I could build it but seemingly not as easily or quickly as others.  In hindsight, that was strange because my testosterone pre-HRT was at the top end of normal, 250 higher than my age average.

* Feminine facial features, yes . But not so much with the rest of the body.

* no, gynomastia.

* I have eyelashes my mother's friends used to comment on.

So some symptoms are there but my testosterone was high.  Maybe it's just a  mystery.




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[Captain Talker]

* long, slender arms and legs - Yes
* a leg length that's significantly greater than the height of your upper body - Is this measured to the hip or to the crotch?
* an armspan 3cm or more greater than your height. - Yes, 4-5cm
* sparse or very fine body hair - No, I'm very hairy
* a female "escutcheon" or pubic hair pattern - Difficult to tell, going to say no
* difficulty building upper body muscle - Yes
* feminine facial features and a generally feminine appearance - Somewhat, which is the main reason I grew a beard
* gynecomastia - Yes
* other things such as female digit ratio - Ring finger is about 0.5cm longer
* absence of acne as a teenager - No
* long, luxuriant eyelashes - Yes
* comparatively small, high arched feet - No


The frustrating thing is that it's very hit-or-miss.

Thanks for your comments so far!

[brianna1016]

Wow. Yes to all of these except gynecomastia. Interesting

[Lady Smith]

I had gynecomastia on one side only and one side of my body had a more femme shape than the other, - so I haven't a clue what was going on with my genetics 

[Captain Talker]

I think it's pretty likely I have hypogonadism of some sort. But I don't know if it's due to XXY or some other factor. I think that DES is unlikely, as I was born in 1991, long after widespread use of DES in pregnant women stopped.

I'll see if I can get bloodwork done next time I'm at the doc, and I'll ask about karyotyping.

[HughE]

I think it's pretty likely I have hypogonadism of some sort. But I don't know if it's due to XXY or some other factor. I think that DES is unlikely, as I was born in 1991, long after widespread use of DES in pregnant women stopped.

The point I've been trying to make is that, in principle, any treatment during pregnancy involving hormones or other medicines that have testosterone-suppressing properties, could have similar effects on brain masculinization. There's plenty of potential candidates. Aside from estrogens, two other entire classes of hormones that are on occasion still used during pregnancy can suppress T production: progestins and corticosteroids. Nonhormonal medicines could be doing it too, for instance opiates and anticonvulsants are both known to lower T levels in adult men.

The really important lesson from DES is that large numbers of people can end up trans as a result of exposure to a medicine given during pregnancy, and it can carry on for years without anyone realising what's happening. That makes it much more likely that other drugs are doing the same thing.

Part of the problem with DES (and even more so with the treatments that replaced it), is that most or all of the hormone exposure takes place after the end of the first trimester, by which time differentiation of the genitals has finished. This means that, when the baby is born, there's often little or no physical evidence of anything having gone wrong. It's not until years or even decades later that problems such as gender dysphoria and hormonal irregularities start to emerge, so there's no obvious connection. I guess the level of shame that's associated with intersex conditions and anything perceived as mental illness also means that families and even those affected try to hide what's happened, which probably reduces the reporting of adverse effects quite a lot.

[cheryl reeves]

i have a high iq,devloped a small b sized breasts when i was 14,stopped taking shirt off around the same time and started to wear baggie shirts sometimes with a over shirt,i forced myself to grow facial hair,but kept the long hair,not much body hair elsewhere,i devloped weird never was checked for any inner sex condition though besides i stayed away from the dr unless i had to because i couldnt hide problem from parents any longer and was forced to go. nowadays i have to go every 6 mo or social security might begin to wonder if i lied to em. i stand 6 ft have a arm span of around that,never developed upper body even though i could pick up almost 400 lbs,that got alot of bullies off guard for they found i was meaner then they thought they were..played with girls and boys til becoming a loner at the age of 17 when i started to feel weird around my male friends sorta like being a 3rd wheel,girls distanced themselves from me,in high school my fav classes were history and home ec.,with the help of a betty crocker cookbook and some imagination i became a pretty good cook,just never got a chance to do it professionally,well i did cook for a roomate who wanted to impress his girlfriend,they said it was the best lasgna they ever ate..reading other postings from others who also are going through this makes me feel less alone..

[HughE]

* muscle, I could build it but seemingly not as easily or quickly as others.  In hindsight, that was strange because my testosterone pre-HRT was at the top end of normal, 250 higher than my age average.
... So some symptoms are there but my testosterone was high.  Maybe it's just a  mystery.

I have, to a greater or lesser degree, all the symptoms in that list. I don't know what my testosterone level was when I was younger, but one thing I do remember very clearly is that, immediately prior to becoming sick with the symptoms of acute hypogonadism in 2007, I had a couple of weeks where my sex drive was very high, before it vanished almost literally overnight. As time went on, I developed other symptoms too, such as a much smaller ejaculate volume, testicular shrinkage, depression, weight gain, and a feeling of great weariness, like my spirit had died and that I was just marking time until my body caught up (these are all symptoms of acute hypogonadism, I think made even worse in my case by years of repressing the female part of who I am).

Anyway, having thought back about how my life used to be, I think I've always had poorly controlled hormone levels, with a pattern of my testosterone levels surging and then crashing going on for most of my adult life. I used to have massive mood swings when I was younger, which at the time I thought were manic depression, but which largely disappeared once I hit 30. Perhaps they were actually the result of extreme ups and downs in my T levels, which became less frequent and less extreme after I hit 30. There seems to have been some kind of change in my hormones around that time, almost like a second puberty. Throughout my teens and 20s I was very androgynous looking, but I started to become a lot more male-looking in my 30s, and began to gain weight too (prior to that I used to eat like a horse without putting on any weight).

Perhaps something similar is/was going on with you, and your blood just happened to have been drawn while you were experiencing a testosterone surge?

Another thing to bear in mind is that both estradiol and SHBG (sex hormone binding globulin) tend to nullify the effects of testosterone, and if those are sufficiently elevated, you can have a total T that looks spectacular, and yet still be experiencing symptoms of low T. I've not had my estradiol measured, but in both sets of blood work I've had done, my SHBG came back about double what I've been told the ideal level for males is.

[Deborah]

?

Another thing to bear in mind is that both estradiol and SHBG (sex hormone binding globulin) tend to nullify the effects of testosterone, and if those are sufficiently elevated, you can have a total T that looks spectacular, and yet still be experiencing symptoms of low T. I've not had my estradiol measured, but in both sets of blood work I've had done, my SHBG came back about double what I've been told the ideal level for males is.

That's interesting.  When my testosterone tested at 826 my estradiol was at 43.4 which is above the normal male level.  It's like my body was fighting itself.


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