Hi does any have any experience with mosaic dna. I've been told all my life by doctors and endo's that I have klinefelter's though my DNA tests done from blood cells show otherwise. I have like 95% of the klinefelters symptoms and was diagnosed with androgen deficiency in my late 20's when it had become quite obvious that I was not just a late bloomer. I was having real trouble trying to pass as male and being bullied and discriminated against constantly for not being normal in a rural town.
It was at that point I had my hormones balanced to female as that is the gender I always felt, I did not want the recommended testosterone shots.
so 12 years later Here I am, still wondering if I have brain tumours, mosaicism or some other explanation. I am finally getting an MRI done next week to see if tumours are present.
I'm not fully educated on whether there is a single good reason to know other than to stop me wondering, it will have no effect on the choices I made. On the bright side I'll officially know which sub section of the forum I'm meant to post in.
Serenation,
If your gene test came back normal, then it's probably not Klinefelters, but just a case of your doctor trying to fob you off with the first diagnosis he could come up with that remotely fit your symptoms. Many of us do have signs of hypogonadism and can physically look quite a lot like Klinefelters patients, even prior to starting any HRT.
Do you want to have children at some future date? If so, then I'd suggest going to a fertility doctor and find out whether you're actually suffering from secondary hypogonadism. If so, with the appropriate treatment it's very likely you can produce some viable sperm that can be frozen and stored for future use. Once you start on transgender HRT, even without an orchie it'll be much harder to do that.
As to what caused your condition, did your mother experience any problems during her pregnancy with you that resulted in her being given intramuscular injections? If so, then it's quite likely that your mother was given synthetic female hormones (estrogens and/or progestins), drugs which, based on my own experiences and what I've seen over the last 3 years of the effects of a drug called DES, can cause a range of intersex-related disorders including gender dysphoria and transsexuality.
If you're interested, here's some further reading:
https://www.susans.org/forums/index.php/topic,157142.0.html
https://www.susans.org/forums/index.php/topic,84224.0.html
https://www.susans.org/forums/index.php/topic,157295.0.html
https://www.susans.org/forums/index.php/topic,159978.0.html
Usually you only check two cells when testing for Klinefelter Syndrome because it's cheaper. They need to examine at least 20 cells to determine Mosaic Klinefelter. Is that the test you had?
http://www.genome.gov/19519068 (http://www.genome.gov/19519068)
How is Klinefelter syndrome diagnosed?
A chromosomal analysis (karyotype) is used to confirm the diagnosis. In this procedure, a small blood sample is drawn. White blood cells are then separated from the sample, mixed with tissue culture medium, incubated, and checked for chromosomal abnormalities, such as an extra X chromosome.
The chromosome analysis looks at a number of cells, usually at least 20, which allows for the diagnosis of genetic conditions in both the full and mosaic state. In some cases, low-level mosaicism may be missed. However, if mosaicism is suspected (based on hormone levels, sperm counts, or physical characteristics), additional cells can be analyzed from within the same blood draw.
Thanks HughE, it was suggested I had klinefelters from around 8 doctors including specialists that run Australasia's largest trans services. Not just a random GP. I transitioned 12 years ago, so even if there was a possibility of having children back then there certainly is not now.
My mother did not have any hormones while pregnant, though hormone imbalances runs in my family both sides. I'll spending some time now reading the links you provided thank you.
MileyOrnot thanks for posting I had 15 blood cells tested. This is where it gets confusing as there is contradictory information online. Your link says only blood cells need testing, others say you can have xy blood and xxy skin cells etc, there are people who have different dna in each eye.
"In other individuals, it is more difficult to diagnose mosaicism. For example, a blood test would not be able to diagnose mosaicism if the chromosome change is only located in the skin cells. In cases like this, additional testing may be needed to detect mosaicism. Usually, this would involve examination of other tissues of the body, such as the skin. A geneticist can help determine whether this type of additional testing is appropriate." - http://www.chromosome18.org/WhatisaChromosome18Abnormality/TheConditions/Mosaicism/tabid/490/Default.aspx (http://www.chromosome18.org/WhatisaChromosome18Abnormality/TheConditions/Mosaicism/tabid/490/Default.aspx)
Have you ever heard of androgen insensitivity syndrome?
It is a condition that hase multiple grades that vary from appearing completely female from birth but with 46XY chromosomes to completely male but with decreased fertility. For a number of grades there is genital ambiguity, but not all. Further grade 1 or 2, where you would probably fall, has very little known about it.
It is very hard to diagnose though. Common symptoms would be under masculization during puberty, infertility, average to slightly elevated testosterone, lh, and estradiol levels. Because of this it can be hard to diagnose. There is another specific genetic test to look for mutations to the ar gene that can be done, but studies have shown that between 27-70% of people with partial ais, the mid to lower grades, will not be detected by that test.
If it is this you may never know for sure. That's where I am. I have a similar story to yours, but I've only recently started hrt. I also had to actively work to be read as male. In fact, my body feminized during puberty to the point where I passed as female 100% without hormones. I've even had multiple doctors think I'm intersex in some way, but never give a confirmed diagnosis.
I understand wanting an answer to why your body isn't standard. It's not as a reason to justify being trans. It's because there is obviously something different about you but you don't know what it is. Its for peace of mind from being a mystery.
I guess I'm really posting to let you know, if you never get an answer your not alone in always having to wonder.
Edit: I guess because I'm feeling insecure that people will think I'm exaggerating, here is a pic: http://i.imgur.com/g5tJMld.jpg?1 (http://i.imgur.com/g5tJMld.jpg?1)
This is me basically without hrt, 1 week of estrogen. I don't pad because I grew breasts and developed that waist to hip curve during puberty. I also don't tuck because its to small to be noticed.
is there a certain doctor that tests for this? i was reading into it since i was hearing about it a lot and it could possible explain why i hit puberty so late though when i got my hormone panal back it showed a somewhat low but in the average range counts o.o
Thanks Alexis I have read some about the AIS the levels and some of them did certainly fit for me. I agree that it has nothing to do with me being trans. Nice to know someone else understands why I'm pursuing these tests.
I was around 5 when I started to question my gender so I consider this a separate issue to me being trans. It wasn't till I didnt get secondary sex characteristics that I knew there was something physically wrong with me. Some people still mistake me for a teenager girl and Im 40. Same story with me is that I struggled passing for male, HRT gave me boobs and made me my mental state much much better (yey for balanced hormones) but no major changes other than that.
Umiko you can read about Androgen defficiency here http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Androgen_deficiency (http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Androgen_deficiency) If your in the lower range of normal, I guess it's still normal, the minimum range for male testosterone is 250 from memory and the range for female is 15-75 from memory.
Being tested for klinefelter's itself is just a blood test or even mouth swab (?) that you GP can organise, depending on your country it may or may not be free (I paid around 300 dollars for dna tests)
i have really good insurance and my GP is in internal medicine so my test are usually paid for in full. can an endo do this test to? i see one this wednesday for further testing
Quote from: Umiko Liliana on May 09, 2014, 12:10:16 AM
i have really good insurance and my GP is in internal medicine so my test are usually paid for in full. can an endo do this test to? i see one this wednesday for further testing
Yes your endo is the perfect person to ask! that's who a GP would refer you to.
awesome. i'll ask for them to do the test and hopefully rule it out though
Quote from: Serenation on May 08, 2014, 09:34:14 PM
Thanks HughE, it was suggested I had klinefelters from around 8 doctors including specialists that run Australasia's largest trans services. Not just a random GP. I transitioned 12 years ago, so even if there was a possibility of having children back then there certainly is not now.
My mother did not have any hormones while pregnant, though hormone imbalances runs in my family both sides. I'll spending some time now reading the links you provided thank you.
MileyOrnot thanks for posting I had 15 blood cells tested. This is where it gets confusing as there is contradictory information online. Your link says only blood cells need testing, others say you can have xy blood and xxy skin cells etc, there are people who have different dna in each eye.
"In other individuals, it is more difficult to diagnose mosaicism. For example, a blood test would not be able to diagnose mosaicism if the chromosome change is only located in the skin cells. In cases like this, additional testing may be needed to detect mosaicism. Usually, this would involve examination of other tissues of the body, such as the skin. A geneticist can help determine whether this type of additional testing is appropriate." - http://www.chromosome18.org/WhatisaChromosome18Abnormality/TheConditions/Mosaicism/tabid/490/Default.aspx (http://www.chromosome18.org/WhatisaChromosome18Abnormality/TheConditions/Mosaicism/tabid/490/Default.aspx)
I don't see how they could make a definitive diagnosis of Klinefelter's if all your genetic testing came back negative for the condition. More likely all 8 doctors were just going along with the initial diagnosis because it meant less work for them, and because they didn't want to discredit their colleague. A lot of the time, doctors act more like a secret society whose first loyalty is to each other and to maintaining the good name of medicine!
They never officially diagnosed it, they just said stuff like I'm pretty sure you have klinefelters, you look like you have klinefelters, we think you have klinefelters, it was after I brought them the DNA test that they said ok you don't have klinefelters (the specialists in Australia were not familiar with the mosaic variant) and said well it can also be a benign tumour affecting the pituitary gland.
I'll check off as many boxes as I can. Not only for myself but to help with research if it's something uncommon.
Quote from: Serenation on May 09, 2014, 08:14:12 AM
They never officially diagnosed it, they just said stuff like I'm pretty sure you have klinefelters, you look like you have klinefelters, we think you have klinefelters, it was after I brought them the DNA test that they said ok you don't have klinefelters (the specialists in Australia were not familiar with the mosaic variant) ......
I had the same experience. My HRT doctor brought it up. (She handles many MtF patients.) She told me that with the mosaic variety, it can be difficult to detect because some parts of the body are XY and others are XXY and there is no way to know which part has which variant. She did said that it doesn't make any difference with HRT as she will be monitoring hormones and it anything, it helps and certainly doesn't hurt, so way spend the money on testing unless you just want to know.
Quote from: Sydney_NYC on May 10, 2014, 12:26:37 AM
...it can be difficult to detect because some parts of the body are XY and others are XXY and there is no way to know which part has which variant...
Well that's weird... how does it even work?
Quote from: Sydney_NYC on May 10, 2014, 12:26:37 AM
I had the same experience. My HRT doctor brought it up. (She handles many MtF patients.) She told me that with the mosaic variety, it can be difficult to detect because some parts of the body are XY and others are XXY and there is no way to know which part has which variant. She did said that it doesn't make any difference with HRT as she will be monitoring hormones and it anything, it helps and certainly doesn't hurt, so way spend the money on testing unless you just want to know.
Hi Sydney. Happy to know some Docs are versed in it. Yeah I'm still curious to know, but there will be a financial limit. it is more than likely something else that will show up in the MRI.
Ms Grace at is basic form it's errors on cell duplication, can read about it here.http://en.wikipedia.org/wiki/Mosaic_(genetics) (http://en.wikipedia.org/wiki/Mosaic_(genetics)) Interesting that someone has different colour eyes, now I'm thinking about puppies, I think different colour eyes is quite common in Alaskan Malamutes
Quote from: Serenation on May 10, 2014, 02:11:33 AM
Hi Sydney. Happy to know some Docs are versed in it. Yeah I'm still curious to know, but there will be a financial limit. it is more than likely something else that will show up in the MRI.
Ms Grace at is basic form it's errors on cell duplication, can read about it here.http://en.wikipedia.org/wiki/Mosaic_(genetics) (http://en.wikipedia.org/wiki/Mosaic_(genetics)) Interesting that someone has different colour eyes, now I'm thinking about puppies, I think different colour eyes is quite common in Alaskan Malamutes
That's exactly how mosaic works. It will not show up on and MRI unfortunately (unless they can see different shaped lungs or kidneys.) My wife's aunt was mosaic, she had different color eyes. For me, I have two different shaped feet. There have been variations to where some individuals have different color skin patches across their body. Sometimes it's just more evident than others. Side note: All calico cats are mosaic and female. If they appear male, they are intersexed.
Thats pretty interesting about the cats, and I hope your feet are not so different that it's difficult to buy shoes.
Some causes for Androgen Deficiency
Testes – medical problems that affect the testes can prevent sufficient testosterone production. Some of these conditions are present from birth (for example, Klinefelter's syndrome, a genetic disorder where there is an extra sex chromosome in the body's cells). Other conditions may occur at various stages of a boy's or a man's life, such as undescended testes, loss of testes due to trauma or 'twisting off' of the blood supply (torsion), complications following mumps, and the side effects of chemotherapy or radiotherapy.
Pituitary gland – the most common condition that affects the pituitary gland and leads to low testosterone levels is the presence of a benign tumour (adenoma). The tumour may interfere with the function of the pituitary gland, or it may produce a hormone that stops the production of the gonadotrophins, the hormones needed to signal the testes to produce testosterone.
Hypothalamus – particular conditions, such as tumours or congenital abnormalities, can prevent the hypothalamus from prompting the pituitary gland to release hormones. This will inhibit testosterone production by the testes. This is a rare cause of androgen deficiency.
The MRI is to check for the last two.
Quote from: Serenation on May 10, 2014, 06:19:57 PM
Thats pretty interesting about the cats, and I hope your feet are not so different that it's difficult to buy shoes.
Fortunately they are the same shoe size in length, but my left one is a little wider than the right one.
HI,
People with Klinefelter's Syndrome typically have most of their karyotype being 47, XXY and about 20% have higher order mosaicism such as 48,XXXY or 49, XXXXY. Typically, the higher order the mosaicism, the more the brain (e.g. speech) is affected. The key point to this post is the people with "most" of the karyotype being 47,XXY. There are other types of mosaics btw...
My favorite article on this, what I'm about to describe, was published in the Journal "Lancet", (p 494, 1965, Letters to the Editor, Lonsdale). While that article focused on a hermaphrodite I don't want to address that focus. I want to focus on the genetics explained in that article because that concept could have broad applicability to those identified with Klinefelter's and perhaps even some who have not been diagnosed with Klinefelter's.
In the article, the patient had the following karyotype: of 64 cells analyzed, 49 were 46,XX, 8 were 46,XY and 7 were 47,XXY. It was hypothesized that "this mosaicism could perhaps result from an initial XXY zygote with posteriorly a double mitotic loss of an X and a Y chromosome." This double mitotic loss would occur during embryogenesis. I have also seen this same explanation for other distributions in other journal articles and in one genetic textbook and I have seen several other papers on people with a similar profile in their karyotype (e.g. and more : Exp Mol Pathol. 1999 Sep;67(1):50-, although they did not include an explanation). I also noted more than one article that talked about the fact that the karyotype of different tissues could be different.
On the basis of my rather limited knowledge of genetics, I hypothesize that individuals identified as having Klinefelter's could in fact have organs that are predominantly 46,XX or 46,XY or 47,XXY and be a more or less typical female or male. However, they could something like 46,XY in the body and 46,XX in the brain.
When they tested me they took six 1" skin samples (two on upper back, two just below my breasts and two on my arms). They analysed a lot of blood cells. They ran DNA and Karyotype of all samples. Anyone can do the karyotype analysis, I have a list of labs that can do the mixed DNA analysis if that is needed as well. (Not all labs can do that).
Hugs,
Jen
Hugs thanks Jen that was very indepth, also makes it pretty clear it's highly possible that people who have it will never be diagnosed. All i know so far that I have 15 blood cells that are XY
I'll update this little journey of knowledge as I go, MRI scan in 3 days.
Quote from: Serenation on May 10, 2014, 11:34:25 PM
Hugs thanks Jen that was very indepth, also makes it pretty clear it's highly possible that people who have it will never be diagnosed. All i know so far that I have 15 blood cells that are XY
I'll update this little journey of knowledge as I go, MRI scan in 3 days.
Why are they doing an MRI? What do they expect to see?
Quote from: JLT1 on May 11, 2014, 12:04:30 AM
Why are they doing an MRI? What do they expect to see?
To check for these
Pituitary gland – the most common condition that affects the pituitary gland and leads to low testosterone levels is the presence of a benign tumour (adenoma). The tumour may interfere with the function of the pituitary gland, or it may produce a hormone that stops the production of the gonadotrophins, the hormones needed to signal the testes to produce testosterone.
Hypothalamus – particular conditions, such as tumours or congenital abnormalities, can prevent the hypothalamus from prompting the pituitary gland to release hormones. This will inhibit testosterone production by the testes. This is a rare cause of androgen deficiency.
If they are present I'll have my answer and know that It's not mosaicism.
Of course I maybe be missing something obvious. I'm going off what the specialists in Australia have told me would cause my Androgen Deficiency. (klinefelter's was also one of the reasons they said could cause it.)
Quote from: Sydney_NYC on May 10, 2014, 12:26:37 AM
I had the same experience. My HRT doctor brought it up. (She handles many MtF patients.) She told me that with the mosaic variety, it can be difficult to detect because some parts of the body are XY and others are XXY and there is no way to know which part has which variant. She did said that it doesn't make any difference with HRT as she will be monitoring hormones and it anything, it helps and certainly doesn't hurt, so way spend the money on testing unless you just want to know.
The reason people with an XXY karyotype often end up with reduced masculinisation and below normal male testosterone production is that it causes primary hypogonadism, i.e. it causes the testicles to remain small and underdeveloped. The result is that they aren't able to churn out the full quota of testosterone (either during your prenatal development or later in life), despite your brain sending them the signals to do so. When we're talking about XY/XXY mosaicism this is a very important point, because it means that unless the XXY cell line is the one your testicles happen to have been built out of, then you won't develop primary hypogonadism and you'll have normal male development. If the doctors suspect that you didn't fully masculinise because you're an XY/XXY mosaic, then if they can't find any XXY cells in a blood sample, all they need to do is look at some of your testicular tissue. The XXY cells have to be there, otherwise, XY/XXY mosaicism can't be the cause of your condition.
The other thing is that ordinary XXY is only about 1 in 500 live births, so XY/XXY mosaicism that doesn't show up in a blood test must be a lot rarer even than that. In other words, unless there were gene test results to back up what she was saying, your doctor was just making up a plausible sounding story to keep you quiet!
Mosaicism (or chimerism) is an interesting topic though, since it's one of the things that proves a person's sex is entirely determined by hormones, not by genes. There is an even more extreme situation than XY/XXY that can arise with mosaicism, where you get a person built out of a mixture of XX (female) and XY (male) cells. Usually these people don't show any signs of an intersex condition, they just end up being whichever sex the cell line that produced the gonads (the embryonic organs that go on to form the testicles or ovaries) happened to be.
http://en.wikipedia.org/wiki/Tetragametic_chimerism#Tetragametic_chimerism
"Most chimeras composed of both male and female cells probably do not have an intersex condition, as might be expected if the two cell populations were evenly blended throughout the body. Often, most or all of the cells of a single cell type will be composed of a single cell line, i.e. the blood may be composed prominently of one cell line, and the internal organs of the other cell line. Genitalia produce the hormones responsible for other sex characteristics. If the sex organs are homogeneous, the individual will not be expected to exhibit any intersex traits."
Thought I'd post to this, it's been awhile. my MRI showed no tumours, but I did find out I have brain damage, so that was a bit of a shock. I finally got into a geneticist 18 months after referral and talked with them a bit on the phone, then they abruptly cancelled appointment when a senior member look at my file, said to my gp a diagnosis of klinefelters was not relevant for transsexuals.
After that my SRS was getting close so I stopped pursuing a diagnosis for time being. I seen my endocrinologist a few weeks after SRS and asked about it again. He said in Australia they will only check for mosaic in the blood and that I will never know why I had an androgen deficiency and klinefelter symptoms.
Now I just have to accept never knowing.
From what you've said about the gene testing you had (15 cells all coming back normal), it's unlikely that you are Klinefelters mosaic. It's much more likely that something happened partway through your prenatal development that disrupted your testosterone production (e.g. an exposure to hormones or drugs with testosterone blocking properties). I think this is likely to be quite a widespread problem, and could well be the underlying cause of most cases of ->-bleeped-<-. Aside from the large number of "DES babes" on this and other transgender sites, yesterday I was chatting online to someone who is nonbinary and was prenatally exposed to phenobarbital. Although phenobarbital isn't a hormone, it interferes with testosterone metabolism and is known to lower testosterone levels in adult men.
Basically, it's been known for a long time that a lot of hormones and other drugs have gender bending properties and can interfere with normal male brain development, but admitting as much would open an enormous can of worms for the medical industry, and so everyone pretends the problem isn't there.
Visually, I look a lot like someone with Klinefelters, however in my case it's definitely secondary hypogonadism, which rules out Klinefelters.
(https://www.susans.org/proxy.php?request=http%3A%2F%2Fi79.photobucket.com%2Falbums%2Fj150%2Fmightyhugh%2FPicturemedleyb_zps50a29fd1.jpg%3F1436961914026%26amp%3B1436961914806%26amp%3B1436961928885&hash=e76bafa47434ce9bd2a8a11b17e96f43856c9a50)
This is a montage of pictures of me aged 12, where I was trying to show how I'd already developed signs of eunuchoidism by that age - long, slender arms and legs, legs that are significantly longer than the height of my upper body, feminine facial features and a generally feminine appearance, female digit ratio etc. In the 3rd picture you can see how my brother has a completely different build from me, much heavier boned and more muscular. Also, although we're almost exactly the same height overall, my legs are noticeably longer than his and my upper body noticeably shorter.
Thanks for all the information HughE, you do look a feminine child. My mother recalls no medications while she was pregnant and my 2 year older brother had none of the issues.It is likely what you say, something disrupted testosterone production. Which is pretty much whay my endo says.
Are T, LH and FT blood test results enough to determine secondary hypogonadism?
Interesting topic. I thought I might of had something like this because I seemed to have many of the symptoms. Like the fact that my arms are about 3 inches out of proportion to my height. I also had a language delay and dyslexia. No facial hair despite nearly being twenty.
But I had a blood test to see if I had low testosterone, but no nothing. The average range is about 9-29 and I got 19: so I got a sound average.
I suppose that proves that I am physically male and provides at least some evidence that I am just nuts. I only have weak evidence to suggest that I am anything more.
Quote from: highlight on July 15, 2015, 12:30:23 PM
Interesting topic. I thought I might of had something like this because I seemed to have many of the symptoms. Like the fact that my arms are about 3 inches out of proportion to my height. I also had a language delay and dyslexia. No facial hair despite nearly being twenty.
But I had a blood test to see if I had low testosterone, but no nothing. The average range is about 9-29 and I got 19: so I got a sound average.
I suppose that proves that I am physically male and provides at least some evidence that I am just nuts. I only have weak evidence to suggest that I am anything more.
Some races have less hair than others and you are also pretty young. MAIS can cause undermasculation without low testosterone though I am not well versed in that is treated and since this is a transgender site I assume you don't want to be treated.
Also after doing some research on testosterone levels last night the average range covers all ages, you can be in range but still slightly low for your age.
Quote from: Serenation on July 15, 2015, 11:28:18 AM
Thanks for all the information HughE, you do look a feminine child.
Yep, I think so too! It shows that there's been something wrong with my hormones all my life. From the blood work I've had done and the fact that my T production has picked up quite well in response to fertility meds, it's definitely secondary hypogonadism (meaning that my testicles, androgen receptors etc are all fine, but my brain regions controlling hormones, the hypothalamus and pituitary, aren't generating a sufficient amount of the signal that tells my testicles to produce testosterone). This, alongside problems with gender identity, appears to be a really common thing among people I've chatted to with a known or suspected history of DES exposure.
My body structure, especially at that age, was much more like the female members of my family than the male ones. I think this is because there was no testosterone present during the critical period when my hypothalamus was developing, so it ended up developing as female instead of male, and has ever since been trying to control my hormones as if I were a woman with ovaries rather than a man with testicles. At the time those pictures were taken it was doing quite a good job, hence I looked more like a girl than a boy in them. However, as I got older, the fact that my "ovaries" produce mainly testosterone rather than estradiol started to show, and I developed facial hair and other signs of masculinization (although much more slowly and to a lesser extent than my brothers).
I never had any blood work done until quite recently, however from what I can remember of when I was a teenager and young adult, it seemed like my testosterone would surge up to a high level for a week or so and then crash, and I'd have massive mood swings and changes in my energy level and sex drive as a result. This continued into my adult life, except the high T periods seem to have become gradually less and less frequent and the quiescent periods longer and longer, until I had one last hurrah shortly after my 43rd birthday, and then my T levels plummeted and never came back, and I started developing symptoms of acute hypogonadism - depression, lethargy, brain fog, ED, loss of sex drive, testicular shrinkage, muscle wasting, back pain, neck pain, problems with balance and coordination, tinnitus, vertigo attacks and acephalgic migraines (those last ones aren't listed in the medical literature as symptoms of hypogonadism, however they've all cleared up since I started taking fertility meds and hormones, so I guess that's what was causing them!).
One other thing is that I was born with a hydrocele, which developed into an inguinal hernia when I was a child. I've found a paper saying that this is one of a number of conditions, all associated with the process of testicular descent, that are caused by abnormally low androgens during prenatal development. With a hydrocele the testicle does finish its descent normally, however the channel it descends through fails to close up properly afterwards, allowing fluid to leak through from the abdomen and blow up the scrotum like a balloon. In my case, a loop of intestine eventually forced its way through the gap too, creating an inguinal hernia.
As far as I can determine, mine was a normal pregnancy of a male child during the first and third trimester, but something appears to have gone catastrophically wrong with my T production during the second trimester. My life experiences and the physical and hormonal abnormalities I've had are very similar to what seems to commonly happen with DES, however I don't identify as a woman (more as a mixture of male and female instead), and it seems like I've had a lot less female brain development than is typically the case with DES. That's why I think the period of low T was limited to the second trimester, and my T production was back to normal in the third trimester (unlike with DES, when it would more usually have been low in both). Also, there was absolutely no medical reason for my mother to be given DES: no history of miscarriage, nor (according to my Dad) any medical problems during the pregnancy that would have warranted its use. My mother suffered quite badly from depression, and the conclusion I eventually reached is that she probably had a bad day, decided she couldn't handle another baby so soon after the first, and took an overdose of something (probably birth control pills) in an attempt to end the pregnancy. I'm unlikely to ever know for sure if that's what happened though.
QuoteMy mother recalls no medications while she was pregnant and my 2 year older brother had none of the issues.It is likely what you say, something disrupted testosterone production. Which is pretty much whay my endo says.
Just because your mother doesn't remember being given anything, doesn't necessarily mean she wasn't. Studies have shown that women tend to vastly underestimate the amount of medication they were given during their pregnancies. Basically they tend to forget about all the bad things that happened and only remember the joyful moments (which I guess is nature's way of ensuring the survival of the species, because if they remembered all the bad stuff, they'd probably never want to go through it again!).
With DES at least, some doctors did the right thing and contacted their patients afterwards to let them know that they'd been given it. There was also a fair bit of publicity about it at the time the link to cancer was discovered too, which made it a lot more likely that mothers would remember they'd been given it.
It could be something else besides medication of course, it's basically anything at all with the ability to interfere with testosterone production, and that probably includes things like stress, infections, industrial and agricultural chemicals, as well as genetic intersex conditions and who knows what else.
Quote
Are T, LH and FT blood test results enough to determine secondary hypogonadism?
Total T, SHBG, Albumin, LH, FSH, free T if it's listed, ideally Prolactin and E2 too
Thanks for taking the time to post again HughE, so many things can go wrong. I just realised I have not said much about myself. Which is because It usually never ends well.
I was born a boy in the early 70's in Australia (which is the wrong time frame for DES I believe) I learn't to walk at 16 months, which Is late and around the time there should be some concern.I was called shorty in high school until a growth spurt to 5'11 and that's about as far as My puberty went. grew only pubic hair. Never grew under arm hair or body hair or facial hair. My parents thought I was just a late bloomer. I never had breast growth though.
By my late 20's I was joke to my friends, they'd get strangers to try and guess my age. I was constantly misgendered it got worse and worse each year I aged.
Got my hormones tested 28 and found out about the androgen deficiency, my testosterone was 120 ng/dl, was told at this point I would normally be given testosterone. Being that I always knew I was mentally female I chose to have my hormones balanced to female range and transition. Transition for me was fairly straight forward as society had already decided I was female long ago. So I often have trouble relating to other trans girls, there are a lot of subjects I don't feel qualified to post in (SRS being the exception I paid my dues there), that said the first half of my life was hell, I know all about not passing, being bashed and bullied, for a long time in my youth I was the "girl" that was ok to hit.
The hardest thing for me was and is no one to truly relate too, born somewhere between genders. Being somewhere between trans and intersex, even as life was mocking me I'm a Sagittarius And a Capricorn. Before SRS when I had to quit hormones I went through hell, I had to get put on anti seizure medication to stop having a migraine every single day it's hard to explain how bad it was for that 6 weeks the flushes and nausea were so bad.
Somedays it' still feels like I'm standing out in the rain looking in at a trans support meeting, then looking in the window of an intersex support meeting and then walking off alone into the rain because I don't know where I fit in.
At my age I don't feel much like chasing after any official diagnosis, but there definitely some odd things about my body as I was growing up. My body isn't symmetrical and had a different shape from one side to the other with one side having a noticeably more femme shape to it. I also started to develop breast tissue on one side as I went into puberty, but that stopped once the doctors got their knives into me and 'fixed' me. Perhaps if some of these doctors were 'fixed' themselves without any explaination as to why it was happening then perhaps they wouldn't be so keen on the whole idea.
Back when I was still married my ex-wife often commented on my asymmetrical body shape, so it wasn't just my imagination. Even after years of HRT I can still notice a persistent asymmetry in the shape of my hips and the breast that started to develop in puberty remains the most developed and larger as compared with the one on the other side.
Serenation, I can sympathise with how you feel as I don't especially feel like I'm trans either. I transitioned because I knew I wasn't male, - made the mistake of thinking female was the only other option and tried to make myself fit in on that side of the gender divide. I'm a DES child so who knows what 'wonderful' things happened to me while I was dozing in my Mum's womb, but after all these years I find myself being most content if I identify as not being a part of any kind of binary definition of humanity.
Being non-binary is a good place to be because it makes me free to be myself and outside of any need to 'pass' as female. I do enjoy femme things and I do feel complete after growing breasts and having my T poison glands tossed in the bin, but any other kind of surgery just isn't on my radar. I like my face for all it's faults and FFS is something that outright horrifies me. Long ago when I started transition I thought I'd want SRS, but that was only because I was fleeing from being assigned male at birth and fled too far. As far as I'm concerned SRS is major invasive surgery that's risky and far too expensive anyway and it's the last thing I'd want have done to me as I have no desire to have a man grunting around on top of me. I'm a romantic asexual so cuddles are king and the thought of sex is about as attractive to me as somebody wanting to stick their finger up my nose.
Quote from: highlight on July 15, 2015, 12:30:23 PM
But I had a blood test to see if I had low testosterone, but no nothing. The average range is about 9-29 and I got 19: so I got a sound average.
Actually no, that is well below the average total T for someone in their 20s.
(https://www.susans.org/proxy.php?request=http%3A%2F%2Fi79.photobucket.com%2Falbums%2Fj150%2Fmightyhugh%2FFHS%2520Table%25203%2520-%2520Distribution%2520of%2520Total%2520and%2520Free%2520T%2520in%2520healthy%2520males_zpsj9pclafy.png%3F&hash=4d5c417aa386ee94ffba288766cfaf4cb872f3a3)
That chart is from a study of healthy males aged 20 to 40 and enrolled in the Framington Heart Study. In it, they were trying to determine the testosterone levels of normal, healthy men. As you can see, the average (mean) total T was 723.8 ng/dl, which in the UK units is 25.1 nmol/l. So your doctor has told you a load of baloney (which is par for the course for the NHS; they don't like diagnosing or treating hypogonadism!). Your total T is below normal for a biologically male person of your age, and if your SHBG is higher than normal as well, it would explain why you have some of the symptoms of hypogonadism.
Mine was 5.2 nmol/l in my 20's
Lady Smith thanks for posting. I am pretty girly and had a long time to think about it. Was on HRT 13 years before having SRS I am happy being binary, though I'm still love all my boy hobbies. Glad you have found what makes you happy also.
@Serenation-
QuoteSo I often have trouble relating to other trans girls, there are a lot of subjects I don't feel qualified to post in (SRS being the exception I paid my dues there), that said the first half of my life was hell, I know all about not passing, being bashed and bullied, for a long time in my youth I was the "girl" that was ok to hit.
The hardest thing for me was and is no one to truly relate too, born somewhere between genders. Being somewhere between trans and intersex, even as life was mocking me I'm a Sagittarius And a Capricorn. Before SRS when I had to quit hormones I went through hell, I had to get put on anti seizure medication to stop having a migraine every single day it's hard to explain how bad it was for that 6 weeks the flushes and nausea were so bad.
Somedays it' still feels like I'm standing out in the rain looking in at a trans support meeting, then looking in the window of an intersex support meeting and then walking off alone into the rain because I don't know where I fit in.
I really hear you. I have had a similar childhood (even though I'm ftm), people were constantly making fun of my body because I looked weird etc. I was very tall at a young age, and could pass as male even with long hair and breasts. Mostly, I was called a freak or ugly.
I also felt that I was in between genders or male since a very early age. I must have discussed it around age 3 or 4. I made attempts at transitioning at age 8 and so on. I was allowed to live gender neutral or boyish by my family. During puberty I tried to fit in as female in for 2 years or so, but it didn't work. At age 17 I realized for the first time that there was something specific going for me genderwise. All this wasn't easy in the 1980s.
A couple of years later, I came out as trans (not easy because I was attracted only to men, i.e. I had to come out as a gay trans man in the 80s).
I also had a couple of unexplained health issues all my life. I didn't transition physically because of that. At age 35 my mother handed me medical papers that showed that there was indeed something physical going on.
Since then I feel stuck somewhere between trans and intersex, or rather, since the medical causes became clearer, I now know what going on with me, and that I actually am different from traditional intersex people and from transsexuals. Strangely, since I got certainty about the physical issues, my feelings of being stuck have become less. I know it's not in my mind, I actually am different, I do have health issues, and I have to live with that, nobody else.
It does make a difference to find out the underlying issues, so I wouldn't give up on that, if it's not to much work.
With intersex conditions, it's not all so simple as Wikipedia says. A friend of mine is clearly intersex, very tiny, never developed secondary sex characteristics, has a beard but otherwise female primary characteristics. Doctors told her that she has a yet undiscovered form of intersex. So there are lots of variants and types, and not all are researched yet.
Just wanted to let you know that you are not alone with these things.