The Science: (notes added by me will be denoted within [] blocks)
1Chromosomes, found in all body cells, contain genes. Genes provide specific instructions for body characteristics and functions. For example, some genes determine height and hair color. Other genes influence language skills and reproductive functions. Each person typically has 23 pairs of chromosomes. One of these pairs (sex chromosomes) determines a person’s sex. A baby with two X chromosomes (XX) is female. A baby with one X chromosome and one Y chromosome (XY) is male.
2The most common abnormal chromosomal condition in humans is sex chromosome aneuploidy (SCA), or a variation in the usual number of sex chromosomes. Usually, there are 22 pairs of numbered chromosomes (from 1 to 22) and a pair of sex chomosomes (X or Y chromosomes) that normally give humans a total of 46 chromosomes. In human males, the X and the Y chromosomes form a pair, with the mother’s egg always contributing an X chromosome. The sex of the baby is determined by the sex chromosome of the father’s sperm, which can contained either an X or a Y chromosome. If the father’s sperm contributes a Y to the pair, the embryo develops as a male; if the sperm contributes an X to the pair, the embryo develops as a female.
When one extra chromosome is present, that pair is instead a threesome, known as a trisomy. Trisomies are often not survivable, and the embryo will spontaneously abort, or will be lost in miscarriage. Even when the trisomy condition is survivable, as it is with Trisomy 21 (Down syndrome) and Trisomy 18 (Edwards syndrome), the babies that are born have significant intellectual disability as well as serious health problems. SCA is the most survivable of the trisomies, and is not often associated with devastating disability. SCA affects an estimated 1 in 500 live births. By comparison, Down syndrome affects approximately 1 in 800 and Edwards syndrome, only 1 in 6000.
Klinefelter Syndrome
1Klinefelter syndrome (KS) is a group of conditions that affects the health of males who are born with at least one extra X chromosome and is estimated to occur in approximately 1 in 600 male births. Most males with Klinefelter syndrome (47,XXY), also called XXY males, have two X chromosomes instead of one. The extra X usually occurs in all body cells. Sometimes the extra X only occurs in some cells, resulting in a less severe form of the syndrome. This is called a mosaicism, and is very common. Rarely, a more severe form occurs when there are two or more extra X chromosomes.
2Less common SCA conditions include Trisomy X, (47,XXX) or a female with three X chromosomes, which occurs in approximately 1 in 1,000 female births, and 47,XYY (occasionally called Jacob’s syndrome), a male with two Y chromosomes, which occurs in approximately 1 in 1,000 male births. Other sex chromosome aneuploid conditions include variations of Klinefelter syndrome and Trisomy X where there are two or more additional X or Y chromosomes, instead of just one additional X or Y chromosome, a these are much less common.
What are the signs and symptoms of Klinefelter syndrome?
1Signs and symptoms can vary. Some males have no symptoms but a doctor will be able to see subtle physical signs of the syndrome. Many males are not diagnosed until puberty or adulthood. As many as two-thirds of men with the syndrome may never be diagnosed. Many men with mosaicism for XXY males do not have all of the signs and symptoms listed below.
2The almost universal finding in males with KS is testicular failure, which is the inability to make sufficient numbers of sperm and, in most, low testosterone levels. Becoming a father may be possible with complex and sometimes expensive treatment [not possible for me]. Although most adolescents with KS enter puberty normally, and begin producing testosterone, puberty is often incomplete because the testes begin to fail in the mid-teens. While most men with KS have a penis of normal size [thankful for this!], the testicles do not increase in size and are characteristically small. We also know that while many younger teens do produce viable sperm in the ejaculate through their mid-teens, this usually falls off precipitously early in puberty.
The other symptoms that characterize many males with Klinefelter syndrome include speech delay, low muscle tone and some difficulty with fine and gross motor skills, learning disabilities and social skill difficulties, including shyness and social withdrawal. Although boys with KS almost always develop functional language, expressive language, particularly written expression, may remain a challenge through life. Attention deficit disorder is more common in KS than in the general population, as are mood disorders and anxiety. Again, symptoms are highly variable from one individual to the next. While IQ may be slightly lower than that of siblings, on average about 15 points, intellectual disability (the preferred term for mental retardation) is rare, affecting less than 10 percent of those diagnosed with 47,XXY.
Signs and Symptoms by Age Group
* – I will display an asterisk on the ones that I had or do have
1Infants and young boys may have:
- clinodactyly (curved little finger)
- hypertelorism (wide-spaced eyes)
- hypospadias or micropenis
- club foot / feet *
- polydactyly (having fingers or toes numbering greater than 5)
- Weak muscles *
- Speech and language problems, such as delayed speech *
- Problems with learning and reading *
- Problems fitting in socially *
- Mood and behavioral problems
Adolescents may ALSO have:
- Small, firm testicles *
- Enlarged breasts, called gynecomastia
- Long legs but a short trunk *
- Above-average height *
- Reduced muscle bulk *
- Sparse facial and body hair *
- Delayed puberty *
- Low energy levels *
Adults may ALSO have:
- Low testosterone (male hormone) levels [for me, only after age 37] *
- Infertility from a lack of sperm *
- Decreased sex drive [after age 37] *
- Problems getting or keeping an erection [after age 37] *
- Other difficulties, such as being unable to make plans or solve problems *
How is Klinefelter syndrome diagnosed?
1Diagnosis is based on a physical examination, hormone testing, and chromosome analysis. The syndrome can also be diagnosed before birth but testing is not routinely done at that time.
When I was 36/37, I was dating a girl named Becky Frank Olsen who already had 2 kids ages 6 and 10. She mentioned that she would not object to having a third child with my complexion though of course, that isn’t in our control. However, I started noticing a trend that I felt that I needed to get checked out:
Between the ages of 19 and 25, I dated this one girl named Carrie Segar on and off. We were together for a couple of years, shit happened, she left, she had a kid, came home, we got back together for another couple of years and were engaged, and then things didn’t work out in the end (she gave me an ultimatum that I could not accept).
I met Briana Van Parys at the age of 30 and I believe we started dating when I was 31. We were together for 3 years and engaged, shit happened, she moved out, she had two kids, my best friends move to her home town, we got back together, and we’ve been together for nearly another 2 years though presently on a break.
I’m very surprised that I have never contracted any STDs considering the number of women that I have had intercourse with without using any type of protection. And yes, I do get tested (usually) after every partner.
The result from the testing done by the urologist is the news that I had shared way back in 2013. The urologist however only disclosed that Klinefelter syndrome was responsible only for the infertility and lack of testosterone production so I thought nothing of it and went 10 years before I really decided to research the damn thing. I started researching it in June 2023.
Health Problems Associated with Klinefelter Syndrome
Klinefelter syndrome can lead to weak bones (osteoporosis), varicose veins, and autoimmune diseases (when the immune system acts against the body), such as lupus or rheumatoid arthritis. XXY males have an increased risk for breast cancer and cancers that affect blood, bone marrow, or lymph nodes, such as leukemia. They also tend to have excess fat around the abdomen (which raises the risk of health problems), heart and blood vessel disease, and type 2 diabetes.
What is the treatment for Klinefelter syndrome?
Treatment can help males overcome many of the physical, social, and learning problems that are part of the syndrome. Males with Klinefelter syndrome should be seen by a team of health care providers. The team may include endocrinologists, general practitioners, pediatricians, urologists, speech therapists, genetic counselors, and psychologists. Surgery may be needed to reduce breast size. With treatment, men can lead very normal lives.
Experts recommend testosterone replacement, starting during puberty, for proper development of muscles, bones, male sex characteristics such as facial hair, and sexual function. Continued treatment throughout life helps prevent long-term health problems. Testosterone replacement does not cure infertility, however. Infertility treatments require specialized and costly techniques, but some men with Klinefelter syndrome have been able to father children.
Credit:
1https://klinefelter.jhu.edu/
2”Living with Klinefelter Syndrome (47,XXY), Trisomy X (47,XXX), and 47,XYY” by Virginia Isaacs Cover MSW, 2012.
Turns out that all my health ailments can be attributed to the Klinefelter Syndrome. Every. Single. One. Here is the list:
- Congenital bilateral club foot of both feet
- Congenital anomalous origin of right coronary artery
- Hearing loss
- Klinefelter syndrome
- Hypertension
- Depression
- Infertility male
- Testis atrophy
- Low testosterone
- Primary localized osteoarthrosis, ankles and feet
- Other hammer toe
- Palpitations
- Atrial Fibrillation
- Family history of premature CAD
- Elevated hematocrit
- Hyperlipidemia
- Diabetes mellitus, type 2
- History of drug and alcohol use
- Hypogonadotropic hypogonadism
- Male erectile disorder
- ADHD (attention deficit disorder) – Combined type
Fuck.



