Hello everyone,
I am Marina from the Netherlands 21 years old and living as a girl since I was 17 years old.
I was born as a boy but when puberty started I noticed I didn't developed as the other boys.
All these symptoms were before I started hormones! I started hormones when I was 19.
- Fat distribution: Belly and hips
- Almost no beard grow( only few hairs on the sides of my chin and if I epilate them they are gone for more than 3 weeks)
- High pitced voice
- Micropenis (4 cm)
- Very small testicles
- No sperm
- 1.69m
- Breast grown when I was 15 ( I was not fat and when I was 17 you could see them through a t-shirt)
- Female pubic hair pattern
- Not much body hair (almost no armpit hair)
- No adams apple
- Straight hairline (female hairline)
- Sorth of hole where normally vagina is and can push it in with half of my finger (Maybe this is nothing but just better if I write it down too)
I have seen 3 GP's (I moved 3 times) and one professor at the genderteam I get treatment as 'transsexual'. Two Gp's suspected XXY (I have all the symptoms but I'm not tall) One wanted to do karytype test in 2011 but I didn't dare it back then and now she stopped working there. And my new Gp says he can't do a karyotype test. The professor at the genderteam saw my genitals and was shocked and told me that is really strange because he said my hormones were all normal.. He just told me it is a little strange it is a possibility that it is an intersex condition but he didn't dare to diagnose because he didn't know much about it.. So he said I say '' delayed puberty''(which is quite weird because I was already 19 before I started HRT) and told me just accept you don't know what's wrong.
I have all symptoms of:
XXY Syndrome (beside I am not tall and don't have elevated LH <- that's what makes me so confused)
XX male ( beside I don't have elevated LH)
Mais(But not elevated testosterone levels)
Pais(but not elevated testosterone levels)
My hormones before HRT I was 19 years old:
LH: 2.2 E/L (Which makes me confused because they say people with hypogonadism/XXY/XX-male syndrome all have higher LH levels.
Prolactine: 0.36 E/L
Estradiol: 85 p/mol
Testosterone: 12 n/mol (Which I was told low-normal)
If al this is normal how is it possible I have all this symptoms? I'm really confused and becoming sad
Greetings Marina
QuoteTestosterone: 12 n/mol (Which I was told low-normal)
9.0914n/mol (262ng/dl) is the lower end of the normal range
and 55.2771n/mol (1593ng/dl) is the upper end of the normal range for males.
But that's only the total testosterone count which basically says nothing about the amount of biologically available testosterone (which is usually only 0.7-3.0% of the total testosterone count, depending on gender and other factors).
Relevant is only the free androgen index, which you can calculate yourself if you have data of your SHBG levels at that time ( http://en.wikipedia.org/wiki/Free_androgen_index ).
Normal ranges for the free androgen index are as follows:
sex | age | standard value |
Female | independent of age | <5.5% |
Male | 21-30 | 36-155% |
| 31-40 | 31-116% |
| 41-50 | 21-69% |
| 51-60 | 13-61% |
| 61-70 | 6-49% |
| >70 | 7-45% |
Values below <30%
can cause fatigue, erectile dysfunction and feminization depending on others factors (like estrogen levels and genetic predisposition).
Well... however the free androgen index is still a very error-prone way to measure the amount of free testosterone in the blood for men and is most of the time only calculated for females. Also the data what is FAI standard value can vary greatly depending on the source, so you shouldn't take the table above too seriously.
Hello, Thanks for your answer!
I don't know my SHBG this are the only things which were tested before I started hormones.
But because my hormones ''seem'' more or less normal and I don't have elevated LH (which is common in XXY,XX,MAIS,PAIS) is this ruled out or is there still a chance I have this? Is it still useful to test karyotype chromosomes and genes?
And maybe I didn't get your message clear but what else could it be?
Again thanks for ur answer ;)
I'm no expert in regards to chromosomes. Since i'm of a (48, XY) karyotype there was no personal need for me to inform myself about other karyotypes.
The karyotype test was in my case paid by my insurance and was part of the first blood test prior to the HRT.
If it doesn't hurt you financially i would consider doing it, since there's no real reason to discuss the possibility of you having XX/XXY in great length if it's easily testable.
Another possibility for the symptoms could be an genetic insensibility of your androgen receptors.
Thanks again railgun :)
Genetic insensibility of my androgen receptors, how is that ''disorder' called? It's not the same as AIS/PAIS/MAIS?
It is AIS (Androgen Insensitivity Syndrome). And C(omplete)AIS, M(ild)AIS, P(artial)AIS are subclasses from AIS.
Ok. Yes I always thought it have to be at least some form of MAIS but I red that they also often have elevated LH and also red they often have higher testosterone levels.
Or isn't this always the case? It has to be something like that otherwise I don't know it anymore..
There is a lot that you can explore about your genetic background and chromosomal structure, but how do you want to live the rest of your life. You're living as a woman. Is that who you are? Are you willing to go the the lengths necessary to fully realize your innermost self? Do you feel more ambiguous about your gender expression? There are some wonderful trans folks in Amsterdam to talk to, but the key I think is what do you need to live a fulfilled and happy life? How do you move towards that realization? And how is authenticity expressed in the innermost of your being?
In case of AIS the conversion from Testosterone to dihydrotestosterone (DHT) can be impaired due to mutation of the gen of the 5α-reductases-Enzyme (http://en.wikipedia.org/wiki/5-alpha-reductase_deficiency). This leads to higher testosterone levels and possibly slightly elevated estradiol levels (due to aromatase).
However this mutation is no requirement of AIS, there are bunch of other possible causes that can lead to AIS. Thus Testosterone levels can be well within any part part of the normal range.
The same goes for elevated LH levels: it can happen.
If you want to be sure, you can make a genetic test, but that can be very expensive.
JulieBlair, I live as a woman, I feel like a woman and I know I am a woman.. But it's very easy to say '' just live and forget you're woman now whats is the problem'' ?
Well I think I have the right to know what is/were going on .. I want to know why my body didnt do what normally happens during puberty... because thats the reason i was bullied and inbarressed... for years! I just want to know and then I can move forward.
Quote from: Railgun on December 03, 2014, 02:58:11 PM
If you want to be sure, you can make a genetic test, but that can be very expensive.
How is that test called? How can I ask for it?
Quote from: Marina1993 on December 03, 2014, 03:01:23 PM
JulieBlair, I live as a woman, I feel like a woman and I know I am a woman.. But it's very easy to say '' just live and forget you're woman now whats is the problem'' ?
Well I think I have the right to know what is/were going on .. I want to know why my body didnt do what normally happens during puberty... because thats the reason i was bullied and inbarressed... for years! I just want to know and then I can move forward.
Point taken, You have every right to understand your body at whatever level of physiology that is important to you. I apologize if you took my meaning to deny that.
Julie
Quote from: Marina1993 on December 03, 2014, 03:31:26 PM
How is that test called? How can I ask for it?
I'm not sure about the common name for that test in english. If i translate the german name it would be "moleculargenetic diagnostic". Usually your blood gets collected in a clinic (e.g. your endocrinilogist's) and then send to a bigger moleculargenetic laboratory. However your doctor has to make clear to the lab that he is looking for a molecurgenetic diagnostic of Androgen Insensitivity Syndrome, since a complete diagnostic would be far too expensive.
I did one for Thrombophilia, but this was again part of my pre-HRT procedure and paid by my insurance.
Quote from: JulieBlair on December 03, 2014, 03:33:26 PM
Point taken, You have every right to understand your body at whatever level of physiology that is important to you. I apologize if you took my meaning to deny that.
Julie
No need to apologize ;)
Quote from: Railgun on December 03, 2014, 03:49:10 PM
I'm not sure about the common name for that test in english. If i translate the german name it would be "moleculargenetic diagnostic". Usually your blood gets collected in a clinic (e.g. your endocrinilogist's) and then send to a bigger moleculargenetic laboratory. However your doctor has to make clear to the lab that he is looking for a molecurgenetic diagnostic of Androgen Insensitivity Syndrome, since a complete diagnostic would be far too expensive.
I did one for Thrombophilia, but this was again part of my pre-HRT procedure and paid by my insurance.
Ok. Thanks! In Holland if you have a problem many things insurance pay but I will see.
You said you have 48XY what does that mean?
That i have 23 autosome pairs and 1 sex chromosome pair (XY) = 48 chromosomes -> (48,XY)
Usually humans have 46 chromosomes, which suggests that i might have a Tetrasomy (four copies of one chromosome instead of two).
Since i have only one sex chromosome pair one of the autosomes has to be the one with the four copies, otherwise i would have (48,XXYY) or (48,XXXX).
Lukily i'm seemingly perfectly fine and have none of the known tetrasomy related illnesses.
Well... or it's a print error. I personally would prefer that one. xP
Interesting Railfun :)
I forgot to notice something... ALthough I almost didn't have a puberty I did have Acne.. Isn't that a little strange?
Not necessarily. Acne can have many causes and that you kind of didn't had a male puberty doesn't mean that your hormone levels were stable at that time.
Also you kind of worried me yesterday. I never really looked at my karyotype in detail before. When i received the results of the test i took a quick look, saw a XY an put them away (had hoped for an XX, XXY since i'm far from being a very masculine person ^^). It was just yesterday that i saw the chromosome count of 48 and since i'm not really eager to have some kind of unknown underyling disease due to that i called my endocrinologist today who took the test.
It was a mistake on their side. In their database i'm listed as a n ordinay (46,XY) karyotype. *phew* Relieving ;D
Oh yes that's relieving yes!
Do you know why you are not as masculine? You have an Intersex condition?
I asked a Karyotype test and some more help at my gp but he says he doesn't know how..
It's a shame I didn't dare to do the test when in 2011 another gp asked me..
How can I convince him that he can arrange something like this for me?
No... i don't know actually why. I actually had (i'm on HRT now) testosteron levels in the upper half of the normal range and an FAI of 67%. But until around 20 i never really developed a beard and it grew very slowly. I'm very tall (193cm currently) but thin with very small shoulders and chest for my height. I also never had visible muscle mass/bulk. I did modern Karate in the past and noticed that my strength increased a lot over the time, but it was never really visible. ^.^
My Face was also always pretty androgynous, but i had hormonal acne most of the time (DHT, i don't like you -.-).
I have no signs of male pattern baldness. My voice is in the upper normal male range and i have no problems with speaking in the highest pitch of the female (speaking) range (but that sounds weird, even for ciswomen xP).
Well... but i still have a lot of work to do in regards to modulation and sadly i have small hips, but hey, maybe some fat deposits will help (if i manage to develop some). xP
In regards to your problem: I don't know. I probably would just ask a different gp. You should maybe ask around if some nearby clinic has the equipment and experience to do the test for you.
Oh that is really strange! You're going to investigate the reason why further? Or did you accept you don't know why?
It is a little strange because it is not normal for a ''normal born man''. Sorry to ask maybe you don't want to answer..
You have also small testis and a small penis (micropenis)?(before hrt ofcourse).
I really don't know what it is and why.. but I'm sure it can't be just a variety of a man.. (Which some people want to tell me because they don't know anymore what to think of me because its so strange hihi)
Because of this and because I was bullied because of this because I didn't look like a normal boy it is very difficult for me to identify myself as a '' transsexual ''. Also the gp and a woman of an intersex movement here in Holland told me that I'm not developed fully as a man so the case ''transsexual'' can be discussed because its not only an physological problem for me but also a medical/physical problem. Sorry for my many words. Do you understand?
I checked the most obvious possible reasons and since they all evaluated to false it simply comes down to genetics, i guess.
So yes... i just accepted to know that i know nothing. :p
And no, i have no micropenis... quite the opposite actually. Material that will come in handy for SRS... °.^
As for the testicles... i don't know. They're normal... i guess? I have actually no clue what is small and what is big for testis. ???
As for the transsexual thing.... You were assigned as one gender at birth but identify as the other and this identification is strong enough that you seeked to fully transition.
In my view that completely fullfills the criteria for transsexuality. You don't have to fully develop as a man/women to be transsexual. And as for your "symptoms": I would just see them as a gift. ;)
I understand your point of view. Although many people with intersex conditions are assigned one gender and choose for the other.
Also I can't even fully do the ''full'' transition because of my micropenis they told me it's almost impossible to operate.
Happily I don't have problems the way it is now because its so small and as thin as a clitoris that I easily can fit in a bikini without seeing anything.
Also this
Janet Green, executive director for New Jersey-based support group Bodies Like Ours, explains that intersex refers to someone with atypical genitals, like an enlarged clitoris or a "micropenis." It can also refer to someone who has one ovary and one testicle, or someone whose chromosomes are, say, XXYX instead of XX or XY.
So because of my micropenis I can say I'm intersexed. But I don't believe it's that easy.
Anyways I don't mind you calling me a transgender and I am not claiming anything, but I just wanted to tell you my point of view.
And I understand you tell me to be happy about my ''symptoms'' and partially I am.. but it was also the reason that I was bullied for many years so that's easy to say.
Hey Marina.
I personally just found out I have PAIS.
Your symptoms, are just like mine. Well except I don't know what my hormone levels where before starting ERT.
My GP had the gene test done, and it came back with an unknown version, so I might have a thing or two different than atypical PAIS.
I thought I was XXY as well, because it fit but I still had a higher level of T, even on low dose Spiro.
I'm glad you where able to live as you see fit so young. I grew up in a Fundamentalist Church environment, so I had to wait out of fear and hate.
Quote from: Marina1993 on December 03, 2014, 03:31:26 PM
How is that test called? How can I ask for it?
The test here is called a karyotype test.. You can have it done by a endocrinologist which I absolutely suggest..
Actually they will need to order two tests. One is a karyotype test to see if your XY/XX/XXY etc.
The other is a gene test. They will test to see if you have any known or unknown mutations of you Andergen Receptor gene.
Like in my case, I'm XY, with an unknown mutation.
Quote from: Emily King on December 14, 2014, 12:08:14 AM
Actually they will need to order two tests. One is a karyotype test to see if your XY/XX/XXY etc.
The other is a gene test. They will test to see if you have any known or unknown mutations of you Andergen Receptor gene.
Like in my case, I'm XY, with an unknown mutation.
Emily is it possible we can have a chat? I really have to talk to someone with similar symptomes
My mutation was very obvious so I just had the karyotype test, hormone levels checked, and then a few ultrasounds and a pelvis MRI to be certain.
Depending on the karyotype, there are other tests that should be done.. That's why I suggest the karyotype test first.
Hey JoDavanee what were your symptoms?
Hi Marina!
Are you talking about symptoms before receiving my full diagnosis, or the diagnosis itself..?
I thought I red somewehere you are XXY? I meant the symptoms you had before you get any diagnosis :)
Hey people !
I did find something out.
Aren't my symptoms a form of '' Secondary Hypogonadism '' or '' idiopathic hypogonadotropic hypogonadism ''..
because with '' Primary Hypogonadism '' Your testosterone is Low to low-normal and your LH AND FSH are high-normal or elevated
And in Secondary Hypogonadism you have a Low to Low-normal testosterone and a low to low-normal LH an FSH.
Since I have all the symptoms and my LH is 2.2 the only possibility is '' Secondary Hypogonadism/IHH '' Isn't it?
That would rule out XXY/XX/PAIS/MAIS because they all have elevated or high-normal LH right?
It seems this is the only possible reason for my symptoms..
Can I get the diagnosis IHH from only showing the results of bloodtest before my HRT and my symptoms?
Hi Marina!
I'm 46XX/47XXY..
TBH self-diagnosing is a bit odd and difficult.. I absolutely wouldn't suggest it. :-\
I don't mean self diagnosing! I mean can a doctor Diagnose me with this with the info of my bloodtest and my symptoms/genitals?
Quote from: Marina1993 on January 03, 2015, 07:56:25 AM
Hey people !
I did find something out.
Aren't my symptoms a form of '' Secondary Hypogonadism '' or '' idiopathic hypogonadotropic hypogonadism ''..
because with '' Primary Hypogonadism '' Your testosterone is Low to low-normal and your LH AND FSH are high-normal or elevated
And in Secondary Hypogonadism you have a Low to Low-normal testosterone and a low to low-normal LH an FSH.
Since I have all the symptoms and my LH is 2.2 the only possibility is '' Secondary Hypogonadism/IHH '' Isn't it?
That would rule out XXY/XX/PAIS/MAIS because they all have elevated or high-normal LH right?
It seems this is the only possible reason for my symptoms..
Can I get the diagnosis IHH from only showing the results of bloodtest before my HRT and my symptoms?
Most probably you're going to be tested for other things for proper diagnosis. My current endo first ordered 43 tests and we found out lots of things...