Understanding the Mechanics of Genetic Intersex Variations
Intersex Variations – Understanding the middle of the spectrum
It’s ridiculously difficult to find accurate comprehensive information about intersex populations, much less intersex experiences. Most resources prefer to gloss over the many types of intersex genetic expressions and try to offer as little information as possible. The following is the result of my research into the area using accessible and credible sources.
Before we get started
- Bias is written into science despite our “best efforts” at objectivity.
- Much research about intersex people ignores the humanity and actually lived existence of these populations.
- Reframing
- You will hear words like error, mistake, failure and disease thrown around, and the use is pervasive throughout the literature and available media.
- Please know that in this space we MEAN differently.
- When “error,” or “mistake” appear, please know that I intend “event.”
- Syndrome is more usually appropriate than disease.
- Failure can usually be replaced with “variation.”
- Replace “normal” with “most common,” and we’re just talking about where most of the events or traits fall on a bell curve of human variation.
There are two types of cell division, mitosis and meiosis. Most of our cells undergo mitosis. Our germ line cells (sex cells) undergo meiosis (2 phases of meiosis) before becoming gametes (egg or sperm cells).
This process is highly variable, and enables genetic variation so our species can create new traits. Ever wonder how we got from australopithecines to now? This is the magic. If this only worked one exact way all of the time, we would have much fewer variations which has its own dangers.
Variation during meiosis 1 creates 2 gametes with double information.
If the variation occurs during the second meiosis, the result will be one gamete with double chromatids, two gametes with the expected number of chromatids, and one that has no chromatids.
If the gamete is still viable following these variations, AND it connects with it’s complimentary gamete (“Hey there, Sweetie Pie!”), fertilization is possible.
Fertilization
Zygote Cell Division (mitosis)
Variation can also occur AFTER fertilization, during early cell division. This leads to mosaic versions, so SOME of the individual’s cells contain 46 XY and SOME contain a variant.
45 X Turner Syndrome
Several variations are indistinguishable without genetic testing.
These reflect several different events taking place during cell division.
47 XXY – Klinefelter
- Mostly undiagnosed
- Tall stature
- No facial hair
- Male breast tissue
- Osteoporosis
- Hypogonadism
- Low testosterone
- Infertile
- Variety of expressions
Triple X Syndrome – Trisomy X
47 XYY
48XXXY
- Very similar to Klinefelter’s 47 XXY with additional characteristics
- Specific fusing of lower arm bones
- Hypermobility
48XXYY
- Very similar to Klinefelter’s 47 XXY, 48 XXXY, and
- Delayed dentition and dental misalignment
- Delayed development
- Cognitive impairments
- A variety of body systems can be affected
49XXXXY
- Very similar to Klinefelter’s 47 XXY, 48 XXXY, and 48 XXYY
- More problems creating speech due to mouth structures
- Flat bridge of the nose
49 XXXYY
- Exacerbated Klinefelter’s symptoms
- More cognitive impacts
- More dysautonomia
- More effects on all body systems
49 XXXXX
Fragile X
The more Xs you have, the more chances to have a fragile X.
It is my sincerest hope that this will help lead to greater understanding and the normalization of variation.
On a more personal note, some of my very favorite people are intersex. They really exist, and they deserve validation, love, care, and belonging. The social and even medical erasure of intersex people is damaging, traumatizing, and it keeps these beautiful souls from the quality of life they deserve.
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- https://youtube.com/shorts/PcXKbsDJkvA?si=3FFaaeYXW_smR4pL
- Articles
- https://medlineplus.gov/genetics/condition/fragile-x-syndrome/#:~:text=Fragile%20X%20syndrome%20is%20a,and%20language%20by%20age%202
- https://insider.si.edu/2016/06/smithsonian-study-reveals-precipitous-decline-genetic-diversity-wild-cheetahs/
- https://rarediseases.org/rare-diseases/penta-x-syndrome/
- https://jpedres.org/articles/doi/jpr.35744
- https://rarediseases.info.nih.gov/diseases/10922/49xxxyy-syndrome
- https://medlineplus.gov/genetics/condition/49xxxxy-syndrome/
- https://medlineplus.gov/genetics/condition/48xxxy-syndrome/
- https://medlineplus.gov/genetics/condition/48xxyy-syndrome/
- https://medlineplus.gov/genetics/condition/47xyy-syndrome/
- https://medlineplus.gov/genetics/condition/trisomy-x/
- https://medlineplus.gov/genetics/condition/klinefelter-syndrome/
- https://www.nature.com/articles/s41467-022-34294-6
- https://www.news-medical.net/news/20201210/High-error-rates-found-in-human-egg-cells.aspx
- https://www.ferty9.com/blog/the-path-from-zygote-to-baby
- https://www.scienceabc.com/pure-sciences/introduction-to-zygotes-definition-biology-vs-emrbyo.html
- https://www.shaalaa.com/question-bank-solutions/long-answer-question-describe-the-process-of-fertilization_160226
- https://eweb.furman.edu/~wworthen/bio111/mutation118.htm
- https://letstalkscience.ca/educational-resources/stem-explained/meiosis-mistakes
- https://web.stanford.edu/~eckert/PDF/Martin1991.pdf
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