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querrobin

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Hi I’m new here so I don’t really know if I’m posting this to the right place but I just wondered if anyone knew how you actually get “diagnosed” as being intersex

What tests do they do to find out whether you have irregular tissues/hormones/etc. I’m asking because I think I might be intersex and would like to know

Thank you!
 

OzGirl

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Robin, the understanding of Intersex is evolving, and more categories are being discovered. The basic test is to identify your genes, which is quite expensive and generally hard to get, and then other tests to identify which specific syndrome you might have. It has come a long way from ambiguous genatalia!

Intersex people are rare, and face different challenges to Trans people, mostly because so few doctors have knowledge, but often require similar procedures to Trans people to become comfortable with themselves.

Many trans people have developmental issues cause by hormonal variations, but this is not intersex. I had hypogonadism which caused me to have low testosterone, especially in my later life. This caused me to have less severe male deveopment, and shrinking genitals, way before starting HRT. But I was fertile, and this generally indicated I wasn’t intersex. So there are a lot of things associated with gender variance, and few medical people have enough knowledge to diagnose. Other members will give you more specific information, but diagnosis is not so simple!

Hugs,

Allie
 

Donica

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Yup! Your in the right place Robin. Great question. I'm sure there will be a few folks along any moment that can answer you question.
 

Lexxi

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Hi Robin,

As far as I know I think you have to have genetic testing. I think it's done with a blood draw or maybe a cheek swab. We have one member here who knows all about it.

Our resident expert is named @Linde , she's intersex, and I'm quite positive she'll be along to answer your question anytime now.

Welcome to our Refuge by the way.

Lexxi
 

Linde

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Hello Robin, I am an intersex person. testing is involved, and is not always payed for by health insurances.
If you want, we can deal with you questions through PM's or you can tell me here in the forum, what makes you feel that you are intersex. By the way, I am also a medical doctor.
Solet me know in what ever way, what questions you have?


Linde
 
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Robin, the understanding of Intersex is evolving, and more categories are being discovered. The basic test is to identify your genes, which is quite expensive and generally hard to get, and then other tests to identify which specific syndrome you might have. It has come a long way from ambiguous genatalia!

Intersex people are rare, and face different challenges to Trans people, mostly because so few doctors have knowledge, but often require similar procedures to Trans people to become comfortable with themselves.

Many trans people have developmental issues cause by hormonal variations, but this is not intersex. I had hypogonadism which caused me to have low testosterone, especially in my later life. This caused me to have less severe male deveopment, and shrinking genitals, way before starting HRT. But I was fertile, and this generally indicated I wasn’t intersex. So there are a lot of things associated with gender variance, and few medical people have enough knowledge to diagnose. Other members will give you more specific information, but diagnosis is not so simple!

Hugs,

Allie

Allie,

Is it possible to glean 23andme RAW data to make a determination? If not, can you recommend how to proceed?

I am an outwardly appearing male who recently discovered that I have a female pelvis.

I want to know what would be the best course of action.

Any advice is appreciated.
 

Linde

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Hello HeatherABrooks, I am not Allie, but I am intersex and a medical doctor.
You can use the raw data from tests like 23andme to do a quick and dirty analysis. You have to comb through the data and look for deviations of the sex chromosomes XX or XY.
Depending of your phenotype (male or female), you can look for the presence or absence of the chromosome pair that would be typical for your phenotype. Which means, if you have a male phenotype, and can't find a XY chromosome pair, or find XX chromosomes, it is likely that you are intersex.
However to find out exactly, what is going on you need a test called karyotyping (this test ist costly, and a medical provider should order it).

However, there are intersex conditions that do not show up in the chromosomes, and are of a genetic nature. One would need to run more involved tests to determine those.
In general one can say that if some of your bodily features do not meet the general conditions of the phenotype your are supposed to be, it is very likely that you are intersex, and more detailed testing would be warranted. The best medical discipline for this kind of diagnosis are endocrinologists. However, many health insurances will not pay for testing, if the condition is not causing health problems.
I am not sure, if I was born with hypogonadism, or if I have PAIS (partially androgen insensitivity syndrome), both manifest themselves in similar conditions, and both are treated the same way, and thus the health insurance will not pay for more detailed testing.

To correct Allie's statement, only a very select versions of intersex people cannot reproduce, many can reproduce like any natal person.
I have a friend who is a hermaphrodite, and looks pretty much like a tough guy, but yet, they have born 4 biological children.

You can ask more questions, and I will answer them as good as I can.

Linde
 

OzGirl

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Firstly, Welcome to TransRefuge @HeatherABrooks , and I am glad to see you posting! While people have suggested I may be intersex, I never went through the testing for this, so @Linde is our resident expert. Having one trait is not really an indication of intersex, and we all have different body types. Generally , males have 3 types of body shapes, Ectomorph, which is straight or rectangular, Mesomorph, triangular with larger hips than shoulders, or Endomorph, which is inverted triangle, where shoulders are large and hips are small. And then many have a mix of theses shapes. You sound like you may be Mesomorph? My curse is that I am very Endomorphic, and it is hindering my passing.

I am in Australia, but could not get Karotyping unless it was associated with a serious medical problem, and most other testing is inconclusive. I very much doubt I am intersex, I am confident I just have the effects from Hypogonadism for decades! It is so hard to get an intersex diagnosis without obvious dual genitalia. The first time a doctor mentioned intersex to me was in 1966 when I was 12, and having severe lower abdomen cramps (enough to bring me to my knees) each month. The doctor checked my testicles and found everything normal (though a little on the small side), so put it down to gas, and over the next 3 years I grew out of it.

For Trans people, we are mostly driven by gender dysphoria, but this doesn’t seem to be the case for Intersex people, who are mostly cursed with unanswered questions. I wish you every success finding out who you truly are, and the peace which can come with that!

Hugs,

Allie
 
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Thank you both for the replies. In the RAW browser on 23andme the SRY gene says that I have Genotype "G".

It has a link to this:


I am guessing the Genotype is synonymous with possible Alleles (G>A)? Does the > mean anything or is that just typical nomenclature instead of another separator like a comma?

Looking at the clinical significance, it says the A variant, it says benign so that means zero effect? Does that infer the G does have an non-benign effect?

Any help is appreciated!

---

Allele: A (allele ID: 694972 )
ClinVar AccessionDisease NamesClinical Significance
RCV000873380.246,XY sex reversal, type 1Benign

---

23andme RAW browser:

Genes More informationMarker More information
Assembly More informationPosition More informationVariants More informationYour Genotype More information
SRYrs11575897
Build 372655180A or GG
Build 382787139A or GG
 

Linde

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The SRY indicates that you have a male phenotype, Genotype G has a low replication capacity due to a low pgRNA level. It has a 36-nucleotide (nt) insertion in the 5′ end of the core gene, adding 12 residues to the core protein. It is responsible for the eye and hair color.

All this means, there is no indication from this test that you are intersex. But, as I wrote, there are other conditions that also can cause intersex syndromes. There are some 60 syndromes that are currently known. It is very common to not only have one syndrome, but several of them.

You may want to take a look at this site, and see if some of the descriptions meet your conditions.

Linde

 
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Thank you for the details. I had read similar pages previously. Through family I learned that my scrotum was not closed. As a child I had steak testicals. Recently I discovered through XRAY that I have a female pelvis. Is there a specific type of DNA test that could narrow down my issue? I believe that Quest Diagnostics offer a SRY gene analysis from a blood draw. I am not sure who would need to analyze the report. Thank you.
 

Linde

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A female shaped pelvis is not necessary a sign of intersex, it can be caused by any kind of genetic mutation. If none of you male relatives have wider hips, it could be an indication of some sorts.
The SRY gene is the one responsible for the development of a male phenotype. XY chromosomes with a functional SRY gene on one of the Y arms causes the body to develop male. A defective SRY gene reduces the masculinization of the body to the degree of the defect, and if it is missing the phenotype can be female. This is different than hypogonadism, or PAS during which the body either does not produce any androgens, or is insensitive to these androgens.
A defective SRY gene, is not considered intersex, but a genetic mutation. Hypogonadism is only considered intersex, if it occurs prior to birth. If it occurs after birth but prior to puberty, it is based on a genetic mutation, and if it occurs after puberty, it is always event related, and considered as being an abnormality.

In your case, an analysis of the SRY gene might be the answer, but I don't think you are intersex.



Linde
 
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A female shaped pelvis is not necessary a sign of intersex, it can be caused by any kind of genetic mutation. If none of you male relatives have wider hips, it could be an indication of some sorts.
The SRY gene is the one responsible for the development of a male phenotype. XY chromosomes with a functional SRY gene on one of the Y arms causes the body to develop male. A defective SRY gene reduces the masculinization of the body to the degree of the defect, and if it is missing the phenotype can be female. This is different than hypogonadism, or PAS during which the body either does not produce any androgens, or is insensitive to these androgens.
A defective SRY gene, is not considered intersex, but a genetic mutation. Hypogonadism is only considered intersex, if it occurs prior to birth. If it occurs after birth but prior to puberty, it is based on a genetic mutation, and if it occurs after puberty, it is always event related, and considered as being an abnormality.

In your case, an analysis of the SRY gene might be the answer, but I don't think you are intersex.



Linde

Thank you for all of this information. This is really helpful. I heard about a DNA site called Promethease and ran a report today. I have no idea how to analyze the report. It is voluminous. I did see several references to sexual dimorphism but I have no idea what these markers mean (if anything given XY chromosomes and identified as male in the report). Also I found a lot of references to ovarian and breast cancer markers. Do men have these markers that are somehow recessive and meaningless? I have no idea.

I am smart enough to realize that I am operating in the dark so far as DNA analysis goes. Can you tell me the best course of action if I am going to pursue a DNA analysis like mutations in the SRY (that did not come up in the report)? Would the best course to seek out a geneticist? I am not even sure what type of professional to consult with or what requires a referral.

There were some markers related to hips ratios but I skipped over those in the Promethease report. I will revisit that.

Here are a few things that came up in the Promethease report. Perhaps meaningless since I am male, I do not know.

rs6717858(T;T) [GWAS:Sexual dimorphism in anthropometric traits]
rs765684(A;A) [GWAS:Sexual dimorphism in anthropometric traits]
rs1358980(C;T) [GWAS:Sexual dimorphism in anthropometric traits]
rs2371767(C;C) [GWAS:Sexual dimorphism in anthropometric traits]
rs2820443(A;G) [GWAS:Sexual dimorphism in anthropometric traits]

rs2293275(A;G) SNP in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, correlated to spermatogenetic damage and thus a risk factor for male infertility.

rs10859871(A;A) Endometriosis is a disorder in which the endometrium, which lines the inside of a woman’s uterus grows outside the uterus (etopic).

Please let me know if it is even an appropriate forum to discuss this personal issue. I feel somewhat guilty that I have hijacked a thread.

Thanks!
 
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When I type in hypogonadism in the Promethease search box it comes up with these markers.

This one directly mentions the term in the description.

rs28933074(A;A) - [OMIM:HYPOGONADOTROPIC HYPOGONADISM] directly mentions the term.


These all mention Hypogonadotropic hypogonadism or just hypogonadism in the foot notes for the marker.

rs2293275(A;G)
rs104893836(A;A)
rs376239580(G;G)
rs727505374(C;C)
rs864309646(C;C)
rs727505375(G;G)
rs864309645(T;T)
rs144292455(C;C)
rs192861143(C;C)
 

Linde

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Hypogonadotropic hypogonadism is a condition with which the pituitary gland is not able to initiate the production of sex hormones. In most cases this is cause by some kind of tumor of the gland. One of the better resources to look at you would be an endocrinologist who is experienced in gender/sexual development conditions. This could be paid for by your insurance, because it is a health issue.
The SRY thing might be handled by such a doctor, too, but for sure by geneticist, and the insurance might not pay for this.

Cancer causing genes will be found in male and females, and men do get breast cancer. Most of the time this is not recognized early enough, and will end to be deadly. Breast caner is found in females more than in males, because they mostly have a much larger breast volume.
Concerning sexual dimorphism, you can take a look here

I am not aware of any website/forum that is dealing with those questions.


Linde
 
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Hypogonadotropic hypogonadism is a condition with which the pituitary gland is not able to initiate the production of sex hormones. In most cases this is cause by some kind of tumor of the gland. One of the better resources to look at you would be an endocrinologist who is experienced in gender/sexual development conditions. This could be paid for by your insurance, because it is a health issue.
The SRY thing might be handled by such a doctor, too, but for sure by geneticist, and the insurance might not pay for this.

Cancer causing genes will be found in male and females, and men do get breast cancer. Most of the time this is not recognized early enough, and will end to be deadly. Breast caner is found in females more than in males, because they mostly have a much larger breast volume.
Concerning sexual dimorphism, you can take a look here

I am not aware of any website/forum that is dealing with those questions.


Linde
Thank you for the tips. I do not have insurance right now so everything is out of pocket. I need to look more at the Quest Diagnostics SRY test offering. There is an office nearby and I had ordered a test on my own there before. Will look in to pricing as well. I will also seek more info on the endocrinologist. I thought the female pelvis might be an indicator but as I understand it that is not a big deal. That is surprising to me!

As for all of my work in the 23andme and Promethease data, there only seems to be one that is questionable:

rs6717858(T;T)

It says Risk Allele (T). Looking at the population data it does not appear that (T:T) is uncommon so that is likely nothing.

I have been searching like crazy to find info but I think that I am at a dead end without an expert weighing in on my situation. I thought that Hypogonadotropic hypogonadism 7 fit like a glove for me, loss of sense of smell, potential hearing loss, etc but it is not one of the "At Risk" allele so that probably means nothing as well.

Ok, thanks for all this info, I really appreciate it. I will stop yammering on now! Thanks!
 

Michelle_P

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Nutrition and age at onset of puberty have a significant effect on bone growth and the development of the skeleton. With ‘delayed onset’ in my particular case I developed what the doctors used to call “eunichoid habitus”, slim, underweight, longer arms and legs. Puberty was eventually artificially induced through years of regular injections of testosterone, an unpleasant experience. I was never diagnosed as ‘intersex’ by 1950’s standards.
 

Linde

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I never knew that I was intersex until much later in life. I knew that I looked different than any male I knew, but I eas told that some people look different.
I found out about my condition when I participated as a test object in a genome analysis panel, and my result came back as typical of a pst menopausal female. That triggered my interest to find out more.


Linde
 
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