TURNER SYNDROME (45, X or 45, X0)
(Alternate general information link)
Rate of Occurrence: 1 in 2,500 girls
“This 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).”
Genes Involved: Missing or incomplete second X chromosome sometimes both X chromosomes but one is rendered completely dysfunctional by mutations, karyotype written as “45, X” or “45, X0.”
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)
“About 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.”
“Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ― a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ― 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)
At birth or during infancy
Signs of Turner syndrome at birth or during infancy may include:
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
Low hairline at the back of the head
Receding or small lower jaw
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:
No growth spurts at expected times in childhood
Adult height significantly less than might be expected for a female member of the family
Failure to begin sexual changes expected during puberty
Sexual development that “stalls” during teenage years
Early end to menstrual cycles not due to pregnancy
For most women with Turner syndrome, inability to conceive a child without fertility treatment”
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)
“Other 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 body’s own tissues and organs.)”
OMIM Entry (Couldn’t 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 “Molecular Genetics” 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 don’t believe me these all came from Google image results for ‘Klinefelter Syndrome’ and I checked the pages they were tied to to make sure they were in fact Klinefelter guys):
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:
“48,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.”
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 “no” 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.
Rate of Occurrence: between 1 in 18,000 and 1 in 40,000 boys
Genes Involved: Due to defects in the parents’ gamete production, inheritance of an extra X and an extra Y from a defective gamete.
Health Concerns Associated With XXYY Syndrome
“48,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.”
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.
That should just about cover it for sex chromosome aneuploidies. Obviously we can guess by all this information that they aren’t causing a third sex and instead cause many health concerns no matter the amount of chromosomes or combinations.
Rate of Occurence: extremely rare and unknown; actual human chimeras are incalculably rare
How this works: This is also called “tetragametic chimerism,” 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 twin’s DNA to different locations in its body, sometimes mixing the DNA sometimes not.
(I don’t 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 zygote’s DNA can cause development of ovotesticular disorder of sex development, which I’ll 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 biology’s intention for the person to have both XX and XY cells and it does not represent nature’s 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 what’s 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 father’s sperm production accidentally places one of his Y’s SRY regions onto the arm of another sperm’s 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 “nonclassical” 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 ‘TEXT’ and ‘Genetic Heterogeneity of 46,XX Sex Reversal’)
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 patients’ health and more about photographic their “freaky” patients for fame and fortune, so almost all case reports on ovotesticular disorder disregard the patient’s health in favor of talking about sexual development.
Clinical reports on patients: (X) (X) (X)
Rate of Occurence: unknown
Genes Involved: In 80 - 80% of cases, unnatural translocation of SRY onto an arm of an X during father’s 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 “nonclassical” 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.
That’d cover just about all of them, I’d 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 wouldn’t 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 “sexes” 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. We’re just here, a little bit different, but we’re still like you, not some third other.
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