Sorry I know this is a really dumb question but, could you present proof that sex isn't a spectrum? I want to have actual medical proof to show to libfems that say it is, and also I want to read about it. Thanks in advance!
ā*EXTREMELY LONG INTERSEX MASTERPOST AHEAD*ā
PART 1
Okay, so Iāll start this off by explaining what intersex organizations have meant when they say āspectrum of sex,ā ādiversity of biological sex,ā or ābinary ideas of sex.ā These terms have been muddied and coopted to fit other groupsā campaigning without care for what they originally meant.
When we say sex is diverse and does not fit into a binary, it means that there is more than one phenotype for the male sex and more than one phenotype for the female sex. Both a male who is not intersex and someone with AIS, an XY condition that makes the body unable to use androgens and therefore no male development occurs giving the person a female phenotype, are still male. Male encompasses the spectrum of XY sexual development between non-intersex male and completely androgen-free males with female phenotypes like AIS and XY lipoid CAH people. Male also includes Swyer Syndrome, where the coding for the hormone that switches uterus development to testes development is mutated and causes uterine development instead.
As for females, you have non-intersex females and you can have females with phenotypes like mine with CAH or a male phenotype like De La Chapelle Syndrome (XX condition where during spermatogenesis a portion of a Y chromosome is accidentally fused onto the arm of the gameteās intended X). That gives us a spectrum of the way females can be.
There is no ābinaryā way of being male because males can have penises and functioning testes (non-intersex), clitoromegaly and internal testes (PAIS), or a female-appearing vulva and regular clitoris size with internal testes (AIS). There are even males with uteri in the case of Swyer Syndrome. There is no ābinaryā way of being female because of the same things.
The āspectrum of sexā is where we overlap phenotypes between two sexes. A non-intersex female will look phenotypically the same as someone with AIS. A non-intersex male will look phenotypically the same as someone with De La Chapelle Syndrome. And I, an intersex female with androgen exposure, will look like an intersex male with PAIS who has had only partial of general male androgen exposure. A side note on that last part, for several years I thought Pidgeon Pagonis had CAH too based on the genitalia descriptions they gave because it was all the same with me. I didnāt know any better until I joined the intersex Discord and the topic came up.
However, while there are not dichotomous ways of being male or female, we know that everyone is either male or female for an important reason: the only reason ours or any species has biological sex is to add different angles and gametes to sexual reproduction. In humans, there are only two options: to make and develop a system to use ova for pregnancy, or to make and develop a system to use spermatozoa for impregnation. No intersex person produces the opposite sexās gamete or has the full and functioning system of the opposite sex to use that gamete. Most of us are infertile.
If intersex people represented a biological sex other than male or female, we would expect most people to be intersex and few to be male or female. This is like any other thing in statistics: opposite-end extremes are the rarest, while roughly 95% falls in the middle-range, just like a bell curve.
Or, in a less numbery graphic:
We also know that truly being intersex (having a major difference of congenital reproductive development, not PCOS, hormonal differences, or general NCAH) is not 1.7% as many āactivistsā love to boast about, comparing to red hair and green eyes. The true statistic is about .0667% of the population having an intersex condition.
Iām going to break things down very clearly under the cut for everyone, looking at each intersex variant, how it arises, what sex, why it belongs solely to that sex, the frequency of occurrence etc. Things will be linked to sources. Some sources may overlap because Iām trying to keep each entry consistent but the information is on the same page as another partās source, like finding the occurrence frequency. Some links will be from MedScape, which has a free registration to view more than a few links but the sources there are goodāI will remain skimpy with using these links because of the needing to register. Itāll be very long so Iām giving you guys the benefit of the cut so you donāt have to scroll through miles on your dash to get to the next post. Like, I am not shitting you. Painfully, severely, agonizingly long and detailed. It has taken me more than 14 hours to compile and source this post.
If you click a link to one of the diseases associated with varying geneās mutations for different intersex conditions and cannot find how it is tied to that mutation of the gene, you can open that geneās protein or enzyme UniProt page as linked in its description in this post and go to the section for Pathology & Biotech. All diseases associated with intersex gene mutations that I have sourced can be found there.
Content warning for some linked (not shown outright) images of nude people, genitalia, and internal organs.
Keep reading
PART 2
TURNER SYNDROME (45, X or 45, X0)
(Alternate general information link)
Rate of Occurrence: 1 in 2,500 girls
āThis condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).ā
Genes Involved: Missing or incomplete second X chromosome sometimes both X chromosomes but one is rendered completely dysfunctional by mutations, karyotype written as ā45, Xā or ā45, X0.ā
Health Concerns Associated with Turner Syndrome (Note: not all patients, but many will have these, some will not have any, and many will have some but not others)
Source 1:
āAbout 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.ā
Source 2:
Before birth
āTurner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ā a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ā or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show:
Large fluid collection on the back of the neck or other abnormal fluid collections (edema)
Heart abnormalities
Abnormal kidneys
Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā At birth or during infancy
Signs of Turner syndrome at birth or during infancy may include:
Wide or weblike neck
Low-set ears
Broad chest with widely spaced nipples
High, narrow roof of the mouth (palate)
Arms that turn outward at the elbows
Fingernails and toenails that are narrow and turned upward
Swelling of the hands and feet, especially at birth
Slightly smaller than average height at birth
Slowed growth
Cardiac defects
Low hairline at the back of the head
Receding or small lower jaw
Short fingers and toes
Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā Ā In childhood, teens and adulthood
The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure that may have occurred by birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include:
Ā Ā Slowed growth
Ā Ā No growth spurts at expected times in childhood
Ā Ā Adult height significantly less than might be expected for a female member of the family
Ā Ā Failure to begin sexual changes expected during puberty
Ā Ā Sexual development that āstallsā during teenage years
Ā Ā Early end to menstrual cycles not due to pregnancy
Ā Ā For most women with Turner syndrome, inability to conceive a child without fertility treatmentā
OMIM Entry
Clinical reports on patients: (X) (X) (X)
Endocrine Profile: abnormally high FSH, LH, and gonadotropin
Intersex: Only occurs in females. No male forms without the presence of Wolffian-determinant coding factors exclusive to the Y chromosome. There is no Y equivalent to Turner Sydrome; humans require at least one X to survive so all fetuses conceived with a singular Y karyotype do not live to be birthed. Turner patients commonly do not form ovaries and instead the tissue degenerates into streak gonads, but in some cases where partial functioning of a second X remains, ovaries may form. Almost all Turner Syndrome patients are infertile.
Images of deformity associated with chromosomal aneuploidy of Turner Syndrome:
More severe, from complete destruction of one X or only inherited one X:
Less severe, partial inheritence of a second X or second X without complete destruction due to mutations:
Some Turner patients may have almost complete functioning of their second X and look and have the same health level as anyone else.
KLINFELTER SYNDROME (XXY)
Rate of Occurence: 1 in 500 to 1 in 1,000 boys
Genes Involved: An extra X chromosome has been placed into either the sperm or ova before conception, so the baby boy has an XXY karyotype.
Health Concerns Associated With Klinefelter Syndrome (again, not all, but a good number)
āOther physical changes associated with Klinefelter Syndrome are usually subtle. Older children and adults with the condition tend to be somewhat taller than their peers. Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus).
Children with Klinefelter syndrome may have weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected boys often have learning disabilities, problems with reading, and mild delays in speech and language development. Boys and men with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves. They tend to have anxiety, impaired social skills, a short attention span, and limited problem-solving skills (executive functioning)
Compared with unaffected men, adults with Klinefelter syndrome have an increased risk of developing type 2 diabetes, blood clots, involuntary trembling (tremors), breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the bodyās own tissues and organs.)ā
OMIM Entry (Couldnāt find one for just the syndrome itself, this one is the closest and focuses on its relation to testicular tumors. Information on this is primarly found in the āMolecular Geneticsā section.)
Clinical reports on patients: (X) (X) (X) (X)
Intersex: Klinefelter Syndrome only occurs in males. The intersex symptom is inevitable onset of gynecomastia, lower sperm count, smaller penis and testes size, and low facial and body hair development. As they have proper-functioning Y chromosomes and anti-Mullerian activity, they produce all Wolffian structures, no Mullerian structures, and produce spermatozoa and not ova.
Some Klinefelter guys (literally just normal guys, if you donāt believe me these all came from Google image results for āKlinefelter Syndromeā and I checked the pages they were tied to to make sure they were in fact Klinefelter guys):
XXXY SYNDROME (48, XXXY)
Rate of Occurence: between 1 in 17,000 and 1 in 50,000 boys
Genes Involved: Unintended inheritance of two extra X chromosomes from a dysfunctionally created gamete.
Health Concerns Associated With XXXY Syndrome:
ā48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.
Most boys and men with 48,XXXY syndrome have mild intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. The problems with speech and communication can contribute to behavioral issues, including irritability and outbursts or temper tantrums. Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills.
48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected boys and men tend to be taller than their peers, with an average adult height of over 6 feet.
Other physical differences associated with 48,XXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds). However, some boys and men with 48,XXXY syndrome do not have these differences in their facial features.
48,XXXY syndrome disrupts male sexual development. The penis is shorter than usual, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes typically do not produce sperm, so most men with this condition are infertile.ā
(No OMIM Entry found)
Clinical reports on patients: (X) (X) (X) <- Last link includes info about other intersex aneuplodies like XXYY and XXXYY, etc.
Intersex: Occurs in males only. The Y chromosome is there and functions, producing anti-Mullerian ability. Regardless of the number of X chromosomes, one ānoā in the way of anti-Mullerian development from even a single Y causes male development. They still have Wolffian structures, may be able to perform spermatogenesis, and a male phenotype, though they are infertile. The penis may be smaller and the testes may be undescended. They never have Mullerian structures, menstruate, or produce ova.
Guys with XXXY Syndrome:
XXYY SYNDROME (48, XXYY)
Rate of Occurrence: between 1 in 18,000 and 1 in 40,000 boys
Genes Involved: Due to defects in the parentsā gamete production, inheritance of an extra X and an extra Y from a defective gamete.
Health Concerns Associated With XXYY Syndrome
ā48,XXYY syndrome is a chromosomal condition that causes infertility, developmental and behavioral disorders, and other health problems in males.
48,XXYY disrupts male sexual development. Adolescent and adult males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk for breast enlargement (gynecomastia). Because their testes do not function normally, males with 48, XXYY syndrome have an inability to father children (infertility).
48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY syndrome are often taller than other males their age with an average adult height of 6 feet 4 inches (193 cm). They tend to develop a tremor that typically starts in adolescence and increases with age. Dental problems are frequently seen with this condition; they include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, and multiple cavities. As affected males get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected males are also at risk for developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, males with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, and congenital heart defects.
Most males with 48,XXYY syndrome have an IQ that ranges from 70-80 with some degree of difficulty with speech and language development. Learning disabilities, especially those that are language-based, are very common in males with this disorder. Affected males seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Some boys with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Affected males have higher than average rates of behavioral disorders, such as attention deficit hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and autism spectrum disorder, which affects communication and social interaction.ā
(No OMIM Entry found)
Clinical reports on patients: (X) (X) (X)
Intersex: Again, because of the presence of at least one non-mutated Y chromosome, only males have XXYY. No Mullerian structures, no ova production. Wolffian structures are present.
Guys with XXYY Syndrome:
That should just about cover it for sex chromosome aneuploidies. Obviously we can guess by all this information that they arenāt causing a third sex and instead cause many health concerns no matter the amount of chromosomes or combinations.
XX / XY MOSAICISM
Rate of Occurence: extremely rare and unknown; actual human chimeras are incalculably rare
How this works: This is also called ātetragametic chimerism,ā meaning that a baby has inherited genetics from four gametes instead of two. This occurs when a fraternal twin absorbs its twin zygote at some point in pregnancy, adding the twinās DNA to different locations in its body, sometimes mixing the DNA sometimes not.
(I donāt particularly like this graphic but it gets the point across)
What sex then? If the gonadal tissue receives enough XX zygote DNA, the person will develop a female phenotype and sex development regardless of even being 96% XY DNA elsewhere. Sometimes, absorption of an opposite sex zygoteās DNA can cause development of ovotesticular disorder of sex development, which Iāll get into in its own section.
Here, the person was determined to be only one sex but then the opposite sex fraternal twin was absorbed. The person still only has the ability to produce and use one type of gamete, not both. It was not biologyās intention for the person to have both XX and XY cells and it does not represent natureās desire to create a third sex. People are still phenotypically one sex or the other. You will not see a patient with a fully developed penis making ova. Most commonly the patient has mixed gonadal dysgenesis (described above in the Swyer Syndrome section of Part 1).
Health Concerns Associated With XX / XY Mosaicism
Congenital Pulmonary Lymphangiectasis with Chylothorax (behind a paywall but the title alone tells you whatās going on)
Perinatal Fatality (again, paywall, only abstract is shown)
Clinical reports on patients: (X) (X) (X) (X)
OVOTESTICULAR DISORDER OF SEX DEVELOPMENT
(60% of all patients with ovotestes are 46, XX. The remainder are XX / XY mosaic chimeras, for which refer to the above passage on XX / XY Mosaicism.)
Rate of Occurence: 1 in 83,000
Genes Involved: Most often in patients who are not mosaics, ovotesticular disorder is caused by faulty sperm genesis in which the fatherās sperm production accidentally places one of his Yās SRY regions onto the arm of another spermās X.
What sex? Patients with 46, XX ovotesticular disorder are all females who happened to receive male coding regions by accident and it is a ānonclassicalā form of De La Chapelle Syndrome, which is described below. Most often the coding region is SRY, but it may also be caused by unnatural duplication or triplication of SOX9 or duplications or deletions in SOX3. (See sections āTEXTā and āGenetic Heterogeneity of 46,XX Sex Reversalā)
As for mosaics with ovotesticular disorder, see their info above.
There is not a condition of ovotesticular disorder where the patient has both a fully functioning penis and vagina, and so cannot make use of both gametes. The person still only has one reproductive capability (if not rendered infertile or physically unable), either pregnancy or impregnation. Persons with ovotesticular disorder do not add a new angle to human sexual reproduction and that is most important in realizing that they are not a third biological sex.
Health Concerns Associated With Ovotesticular Disorder
Cancer of the Testicular Tissue
It is hard to find other information regarding health concerns as they would be specific to which genes are mutated, what hormone levels have been caused, and what quantity of each gonadal tissue has developed. Doctors also care less about these patientsā health and more about photographic their āfreakyā patients for fame and fortune, so almost all case reports on ovotesticular disorder disregard the patientās health in favor of talking about sexual development.
Clinical reports on patients: (X) (X) (X)
DE LA CHAPELLE SYNDROME
Rate of Occurence: unknown
Genes Involved: In 80 - 80% of cases, unnatural translocation of SRY onto an arm of an X during fatherās spermatogenesis. The other cases include mutations of SOX9, SOX3, RSPO1 and WNT4, all important genes in sex development.
OMIM Entry (disregard ovotestis-related info here, as that only applies to ānonclassicalā De La Chapelle Syndrome that manifests as ovotesticular disorder)
Clinical reports on patients: (X) (X)
Intersex: De La Chapelle Syndrome only occurs in females. It is intersex only because the patient is not actually male. While testes are present, they are very small and unable to produce sperm. The person does not produce ova either. Because this is a female disorder, some breast development may take place and there is lower-than-average testosterone production. The patient may be given testosterone HRT to help with prevention of gynecomastia and influence secondary sex development, if wished.
Thatād cover just about all of them, Iād think. Onto our conclusion.
Do intersex people categorize a third sex or disprove that human sex is only male or female? No.
Nothing listed above shows any option toward reproduction other than pregnancy or impregnation, sperm or ova, Mullerian or Wolffian. There is no intersex variant that can make and successfully use both ova and sperm. There is no intersex variant with strict Mullerian development that makes sperm, and no intersex variant with strict Wolffian development that makes ova.
Also, we can tell that different types of being intersex are exclusively tied to mutations of certain genes, which are mutations leading to health concerns or sometimes death. If intersex were a third sex, different disorders wouldnāt be tied to desctruction of function in very specified genes and would instead be healthfully inherited development through a third sex chromosome.
Intersex disorders also tend to be specifically common in some ethnicities and not others, such as virilizing CAH in Ashkenazi Jews, lipoid CAH in Koreans, and 5ARD in the Dominican Republic, some highland tribes in New Guinea, Lebanon and Turkey. All around the world, no matter where you go, almost 50% of people are male and 50% of people are female (save for countries with high rates of femicide). If intersex people were a third sex, we would have each condition show equal rate of occurrence in all ethnicities across the board. But we do not.
We also would not be able to mix āsexesā like having both Klinefelter Syndrome (XXY) and CAH.
Biological sex in humans is dichotomous. We can only be male or female, but there is a spectrum of how males present and a spectrum of how females present. Intersex people do not disprove the existence of biological sex or prove the existence of new sexes; we merely have mutations of genes that altered our course of development, though none that truly reverse our sex and allow us to fully perform the reproductive ability of the opposite sex or both sexes at the same time. Many of us are sterile and unhealthy, and many of us have to live on pharmaceuticals to care for the poor bone and heart health that is so frequent among intersex disorders.
Everyone, please stop spreading misinformation about our bodies as political pawns. Weāre just here, a little bit different, but weāre still like you, not some third other.
a slightly different topic but i think still relevant: iāve seen a fair amount of men who identify as women, from lili elbe in the 1930s to jonathan yaniv in the current year, claiming to be ānot maleā but intersex (and as seen above, this statement is already misleading, as an intersex person is still always male or female), with both male and female gonads. this is always a lie. no human has ever been observed to have both ovaries and testes, let alone two functional sets of gonads (which is often an additional claim). humans, whether they develop normal ovaries, normal testes, streak ovaries, streak testes, or ovotestes, never have more than two gonads. when a man makes this claim as a āgotcha,ā he is always lying. moreover, even a man who is truly intersex is still male, so a man claiming ābut iām intersexā when told that he cannot be female is showing a fundamental misunderstanding of human sexual development, whether he is truly intersex or not.
Hey, in your notes you said you hope itās okay to reblog with commentary like this. Itās okay!
On the topic of humans having both ovaries and testes, some cases of ovotesticular disorder have one ovary and one teste, or two ovotestes, or one ovary and one ovoteste, or one teste and one ovary.
From this source:
General Discussion
āOvotesticular disorder of sex development (ovotesticular DSD) is a very rare disorder in which an infant is born with the internal reproductive organs (gonads) of both sexes (female ovaries and male testes). The gonads can be any combination of ovary, testes or combined ovary and testes (ovotestes). The external genitalia are usually ambiguous but can range from normal male to normal female.ā
Ovotesticular disorder by mosaicism is either caused by mosaicism where one of the gonad tissues could have had both XX and XY cells spread through it (causing an ovoteste), mosaicism where one gonad receives primarily XX cells and develops into an ovary, or mosaicism where one gonad receives primarily XY cells and develops into a teste.
The other cause of ovotesticular disorder, the ānonclassicalā De La Chapelle Syndrome variety, is when part of the SRY coding region mismatches onto an Xās arm during the fatherās spermatogenesis. In cases where this causes ovotesticular disorder, the SRY wasnāt completely functioning to cause full De La Chapelle Syndrome. In this case, depending on the integrity remaining of the SRY and where it is able to produce anti-Mullerian hormone with what function remains in it, it can create the combinations of ovary/teste/ovotestes like described above. It can also be caused by multiplicities of the gene SOX9 or deletions of SOX3, which would alter the functioning of gonadal development in variant ways depending on the extent of duplication/deletion.
Hope these are able to explain the variants of having ovarian and testicular tissue developing in the same body!
And yes, just like you said, no oneās ever had four gonads, including a set of each variety, let alone fully functioning. Both types of gonads have their own specific and drastic hormonal needs to function that would conflict with each other; I.E., to produce and use ova, levels of FSH, LH, testosterone, progesterone, and estradiol must fluctuate in a very specific pattern while producing and using sperm requires fairly stable levels of the hormones.
































