It is a genetic disorder, which occurs at conception. It is only found in males and the chromosomes in the sex line has at least one extra "X". To date, it is unknown whether the extra X comes from the father or the mother or from both parents. In the medical community, it is more commonly known as 47,xxy, but there are many variants to this genetic structure, such as XXXY, XXXXY, XXYY, XX/XXY, XY/XXXY, XX/XXY, XY/XXY, XXY/XXXXY, XxY/Xx/XY, XXXYY, XXY/XX, XXY/XY, XXY/XYY, XXY/XXXY, XXX/XXXY, XXXXY/XXXXXY/XXX, XX(Y), XXXXYY/XXXXY/XXX, XO/XY/XXY, YO/XY,XXY, XO/XX/XY/XXY/XXXY, XY/XXY/XXxY, XY/XXY/XXXY, XX/XxY, XX/XY/XXY
WHAT ARE THE MOST COMMON SYMPTOMS?
Gynecomastia, an abnormal enlargement of one or both breasts in men; hard tiny testicles that never grow, infertility, incomplete masculine body build, height, (6 ft. or more), may not be particularly athletic or co-ordinated. The penis is usually of average length. There may be a decreased growth of facial and other body hair and the male will have long legs, longer than normal arms and can exhibit poor social skills and poor social adaptation.
ARE THERE OTHER POSSIBLE SYMPTOMS?
Increased risk for speech and language problems
Preference for quiet games
Introversion
Frequently shy
Hand tremors
Frustration based outbursts
Difficulties in concentrating
Restless sleep patterns
Lower level of activity
Difficult to awaken in the mornings
Lower degree of self esteem
A form of dyslexia
To some degree, enuchoidal stature,,,,arm span is usually 2 inches longer than height.
Without HRT, a better opportunity to develop cardio-vascular arteriosclerosis (hardening of the arteries)
The inability to maintain long term friends
Attention Deficit Disorder (to some degree)
Rounded shoulders and rounded hips
Life-long soft skin
WHAT ARE OTHER POSSIBLE SYMPTOMS?
Later in life, as an adult male:
Aggression
Little muscle strength,,,,lack of upper body strength.
Obesity, with a possibility of high cholesterol and resulting arteriosclerosis
Risk of osteoporosis
Risk of breast cancer
Risk of autoimmune disorders such as: type 1 diabetes, autoimmune thyroiditis, and/or lupus erythematosus.
Inner anger, requiring anger management
Loss of libido with resulting impotence.
Myocardial infarction after age 30, is common.
IS THERE A CURE FOR S-CA?
No.
IS THERE A WAY TO CONTROL THE EFFECTS OF S-CA?
Yes, by Hormone Replacement Therapy (HRT). By injection of testosterone into the buttocks on a regular basis. Check with an endocrinologist, who has experience with S-ca. In some countries, an androderm patch is available.
WHY DO I NEED TESTOSTERONE?
When a male reaches puberty, between the ages of 11 and 13, changes begin to occur inside as well outside of his body. Testosterone is the primary hormone responsible for these changes. A boy will begin to notice a growth in the size of his penis and scrotum. Inside his body, the prostate and seminal vesicles begin to develop. The larynx (voice box) enlarges and the vocal cords increase in length and thickness, resulting in deepening of his voice. Growth of pubic hair, facial hair, hair on the arms and legs and underneath his arms will occur. The shoulders broaden and muscles begin to grow. Sebaceous glands, found under the skin, begin to produce more oily secretions that can lead to acne. In boys with S-ca, these changes do not always occur due to an absence or deficiency of testosterone in their body. Before puberty, both boys and girls have low levels of testosterone. When a boy reaches puberty, the level of testosterone begins to increase gradually, but not so with S-ca boys. Many S-ca males require life long testosterone replacement.
ARE S-CA PEOPLE AT GREATER CHANCE TO BECOME NON-HETEROSEXUAL?
There have been many reports of s-ca males who are bisexual, homosexual or transgendered. The proportion of S-ca males that exhibit these sexual orientations is unknown. Some believe it is not greater than in the general population and some believe that it is greater than in the general population. The biggest problem is that the general population do not know what the percentage is of gays, bisexuals or transgendered in the population. In a survey which I started in Jan. Of 1997 and by the end of the year, 1998, I had 23 respondents to my questionnaire, 44% where not heterosexual.
This survey is ongoing and I hope to collect information from 100 men.
WHAT IS HAPPENING IN MY BODY THAT IS DIFFERENT?
To answer, we must discuss how testosterone is normally released within the body. The hypothalamus, an organ found in the brain, regulates our bodies (both male and female) by releasing different hormones. When boys and girls reach puberty, the hypothalamus begins to release gonadotropin-releasing hormone (GnRH)or sometimes called "Luteinizing releasing hormone" (LHRH) into the body. The gonadotropin-releasing hormone travels to the anterior pituitary gland, follicular stimulating hormone (FSH) and luteinizing hormone (LH).
These two hormones, FSH and LH leave the brain and enter the blood stream. LH and FSH find their respective receptors and they form a bond with the receptor, similar to a key fitting into a lock. LH specific receptors are called the Leydig cells. LH is the key that fits into the lock (Leydig cells) and stimulates the production of testosterone, the changes associated with puberty can begin.
Testosterone has two important jobs. The first job is to stimulate changes in the body. Secondly, testosterone acts directly on the hypothalamus and anterior pituitary gland to stop the production of GnRH, LH and FSH. When the level of testosterone drops again, the hypothalamus will sense the drop and will begin producing GnRH. The whole cycle will begin again. FSH works in a different manner. FSH goes to the testes also but FSH meets with a different cell receptor. These cells are called the Sertoli cells. In males without S-ca, the Sertoli cells cause the production of sperm after being stimulated by FSH. In S-ca males, the Sertoli cells are unable to produce sperm.
S-ca males are able to release GnRH from the hypothalamus and LH and FSH from the anterior pituitary gland, but in S-ca males, there is no production or release of testosterone when LH combines with the Leydig cells. If testosterone is not produced, puberty will not occur. Until the hypothalamus senses that there is circulating testosterone in the body, the hypothalamus will continue to send out GnRH. Without testosterone, the anterior pituitary gland will also keep releasing LH and FSH, which results in S-ca males having higher than normal levels of LH and FSH. These elevated levels of LH and FSH are responsible for the development of female characteristics. S-ca males often develop breast tissue due to high levels of LH and FSH as well as other feminine characteristics. One of the purely physical advantages of beginning testosterone replacement therapy around the ages of 11 to 13 is to lessen the amount of feminization of a male body.
ARE THERE ANY EFFECTS WHICH OCCUR AS THE RESULT OF HRT?
Remember, you are simply replacing a hormone in your body that is supposed to be there. You can expect to experience the changes that would occur in a boy experiencing puberty. You will probably experience some increased frequency of penile erections. This is very common in boys who do not require testo replacement. Other changes that may occur are acne, weight gain or loss, increased muscle mass and an increase in hair distribution. You and your endocrinologist must work together to determine the dosage of testo that works best for you. Everyone requires a different dosage and you cannot compare your dosage to that of your S-ca friends.
ARE THERE ANY SIDE EFFECTS TO HRT?
In young men with S-ca, there is a greater chance of developing testicular cancer, up to the age of 30, especially men between the ages of 15 to 20, as most testicular cancers in 46,xy men occur before the age of 30.
Due to testosterone replacement therapy, there is a greater chance of developing Benign Prostatic Hyperplasia (BPH) non-cancerous form of prostate problems, earlier on in life. Most men develop this illness in the age range of 60 to 80 and simple surgery is required to correct this problem.
Elevation of blood pressure.
Increased bad cholesterol.
Decreased good cholesterol.
Fluid retention
HOW DO I DETERMINE THE RESULTS OF HRT?
On a quarterly basis, have your doctor check the following blood levels: Cholesterol: total,HDL&LDL,,,,LH, FSH and Free testosterone.
How you feel
Improvement in sex life
How well you get on with other people, generally
Bone density
Overall general health
Level of fatigue, if any
Mood swings, if any
Hair growth and distribution, overall
WHAT SHOULD THE NORMAL "FREE TESTOSTERONE" LEVEL BE, FOR THE AVERAGE MAN? (without s-ca)
9 to 30 ng/dl
IS EVERY MEDICAL PROBLEM I HAVE RELATED TO S-ca?
No
A QUESTION TO PONDER!
Am I a male or am I a female? We are neither. We are the third gender in the human race. This gender is called "intersexual".
Researched & written by Bill Bucar.....1997.....updated Feb. 1999
KLINEFELTER SYNDROME, GENERAL INTEREST SURVEY
Information collected from people in several countries and report written by Bill Bucar, Hamilton, Ontario, Canada. 2 Previous surveys have now been combined, Aug. 18, 2000
Number of people responding to my questionaire: 66
at age 48 - was complaining of a hernia, went to see a urologist, who ordered a karyotype.
at age 52 - in emergancy during a near fatal myocardial infarction.
at age 40 - during a medical examination for a job.
at age 38 - failure to impregnate wife.
at age 55 - due to tiny testes.
at age 37 - urinary tract infection.
at age 47 - due to no strength, tiny penis and testes, and no interest in females.
at age 15 - trying to exclude Marfan Syndrome.
at age 49 - a new doctor giving a medical examination and noticed differences from a typical male.
at age 32 - attempting to impregnate wife.
at age 64 - to correct breast development.
at age 21 - re-enlistment medical for Navy.
at age 19 - noted tiny testes during physical exam.
at age 49 - underdeveloped body, tiny testes, gynecomastia.
at age 17 - depression, anxiety over body shape, total confusion.
at age 29 - infertile.
at age 43 - could not impregnate wife .
at age 34 - testing for infertility.
at age 28 - investigating no testes growth.
at age 19 - investigating reason for undesended testes.
at age 62 - to confirm Klinefelter Syndrome.
at age 21 - Army doctor noticed tiny testes and small penis.
at age 17 - typical symptoms of Klinefelters'.
at age 15 - doctor noticed tiny testes.
at age 38 - due to severe reaction to testosterone.
at age 19 - very shy and low self esteem.
at age 20 - tiny testes and lack of facial hair.
at age 39 - low testo count.
at age 34 - disolving of marriage.
at age 48 - gender dysphoria.
at age 15 - gynecomastia.
at age 19 - doctor was concerned about tiny testes.
at age 50 - depression.
at age 9 - undesended testes.
at age 28 - tiny testes.
at age 16 - gynecomastia, no muscle strength.
at age 16 - chest pains.
at age 31 - nervous breakdown.
at age 19 - crimminal offenses, major mood swings and couldn't get along with people.
at age 16 - one small teste.
at age 21 - attempting to have a vasectomy and blood test revealed XXY.
at age 26 - seeking information on weight gain and tiny testes.
at age 11 - having problems in school.
at age 31 - nervous breakdown.
at age 23 - ongoing depression.
at age 22 - was refused Armed forces entry, due to small testes and was presumed homosexual.
at age 35 - due to pains in groin.
at age 20 - smallness of genetallia.
at age 20 - liver and kidney infection.
Between 16th and 20th week of gestation re: diagnosis of fetal abnormallities, more commonly known as amniocentesis, boy is now 5 years old.
at age 17 - doctor commented on tiny testes.
at age 9 - multiple gross motor skills.
at age 40 - low sperm count.
