Other Benefits of Testosterone

Testosterone supplementation helps boys and men with Klinefelter syndrome immensely, but it also benefits people with other conditions:

• Men of all ages apply natural testosterone cream to enhance their sexual performance
• Body builders apply natural testosterone cream to enhance their muscle mass and strength
• AIDS patients apply natural testosterone cream to curtail unwanted weight loss and muscle wasting
• Post operative patients apply natural testosterone cream to help them recover from surgery, trauma injuries, or anemia from blood loss, because testosterone encourages the production of red blood cells in the bone marrow
• Osteoporosis patients apply natural testosterone cream to slow bone loss and build replacement bone
• Cancer patients who have had their testicles removed apply natural testosterone cream to compensate for the loss
• Depressed patients apply natural testosterone cream to improve their mood and concentration
• Androgen Deficient Ageing Males (ADAM) and late-onset hypogonadal males apply natural testosterone cream to combat their:

1. Changes in mood (fatigue, depression, anger)
2. Decreased body hair (feminization)
3. Decreased bone mineral density and possible resulting osteoporosis
4. Decreased lean body mass and muscle strength
5. Decreased libido and erectile quality
6. Increased abdominal fat
7. Rudimentary breast development (man boobs or gynecomastia)
8. Low or zero sperm in the semen

Women take reduced-dose testosterone to treat poor libido. This is a common “off-label” practice among doctors in the USA and Europe, where no testosterone product is officially approved for use by women.

The situation in Australia is distinctly different. Lawley Pharmaceuticals produces a 1% testosterone cream (Andro-Feme®), tailored especially for women. Andro-Feme® is by far the most popular testosterone treatment option for use in women because it involves no surgery, no pain, is applied by the woman in the privacy of her own home, and the dose is accurately controlled.

Andro-Feme is available for distribution worldwide from the Lawley Pharmacy website - hormonesolutions.com.au

Lowering Testosterone

You may inadvertently lower your testosterone level by consuming foods containing too much protein and too few carbohydrates. If you go on a fad diet with too many carbs and too little fat, it can deplete testosterone. You can marginally increase your testosterone level with exercise. To produce enough testosterone, your body requires the:

• Minerals boron and zinc
• Vitamins A, B6, and C
• Branched Chain Amino-acids (BCAA) valine, isoleucine, and leucine

Role of Testosterone in Humans

Natural testosterone is a steroid hormone, normally produced by the Leydig cells in the testes of humans and animals. Females produce far less testosterone in their ovaries than males do their testicles. The small amount of testosterone present in females does not have a masculinizing effect on them. Testosterone increases libido and affects mood in both sexes.

Testosterone is classified as an androgen (masculinizing substance). Androgens control masculine secondary sex characteristics, like male hair growth patterns (beard, armpits, chest and groin), deep voice, and male fat distribution. Testosterone is crucial for the development and maintenance of the male sex organs (testes and penis).

Testosterone is also an anabolic, meaning it encourages bulky, strong muscle growth.

Testosterone has systemic anabolic effects. It influences fluid balance by making the male retain electrolytes (sodium, potassium, and chloride), water, and nitrogen. Testosterone influences bone growth by encouraging the retention of calcium and phosphate. Testosterone makes the skin more vascular and less fatty.

Riding the Lifecycle
Testosterone production increases when a boy enters puberty. Testosterone production decreases when a man turns 50. A good testosterone target range for an adult Klinefelter man to maintain is 250—1,000 nanograms per deciliter (ng/dl) of blood serum. Rubbing a teaspoon of 5% natural testosterone cream every morning into your arms, shoulders, abdomen, or scrotum can help maintain this target range. Allow the cream to absorb into the skin before dressing. Wash your hands well with soapy water after use. Avoid close physical contact with women and children after application.

There are no reports of acute testosterone overdose in the literature; however, Andromen® Forte 5% Testosterone Cream is too strong for women and children.

Lawley Pharmacy offers a 1% testosterone cream product for use by women.

Before using testosterone, for any reason, it is vital you consult with your doctor.

What are my treatment options?

Boys with Klinefelter syndrome do not need a special diet, or to restrict their activities. Hospital care is not required. Treatment is on an out-patient basis.

Testosterone is the treatment of choice for Klinefelter syndrome. Testosterone can reduce the gonadotropin level to high normal. Gradually, testosterone will virilize the boy, giving him male secondary sex characteristics, like a beard, body hair, and a male-pattern fat distribution.

When your son is 11 or 12 years old, the doctor will begin injecting him with 50 milligrams of Testosterone enanthate (trade name Delatestryl) or testosterone cypionate (trade name Depo-Testosterone) on a monthly basis. The doctor will closely monitor your son’s growth and the development of male secondary sex characteristics. Your son will need to have blood drawn to check the gonadotropin hormone levels.

Adult males with Klinefelter syndrome visit the doctor every two or three weeks to receive an intramuscular injection of 200 milligrams of either testosterone enanthate or cypionate. Ask your doctor if Andromen® Forte 5% cream is a suitable alternative for you. Unlike intramuscular injections, the cream is painless. The daily dose you receive with cream is even. Injections produce uneven levels because they wear off and have to be replenished every 7—22 days.

Testosterone is sometimes called exogenous androgen. Boys with short AR CAG repeats respond better to androgen therapy than boys with long CAG repeats in their gene sequence.

Specialists

You and your child can also benefit from consulting with these specialists:

Geneticist: A geneticist can diagnose Klinefelter syndrome before your son is born through a fetal cytogenetic analysis. A genetic counselor may help you explain Klinefelter syndrome thoroughly to your affected son.

Endocrinologist: A hormone specialist can monitor the effectiveness of the testosterone replacement therapy regularly. The endocrinologist will order blood tests for testosterone, FSH, LH, and estradiol. The endocrinologist may order an echocardiogram for mitral valve prolapse, x-rays, and a bone density test for osteoporosis.

Physiotherapist (PT): Your affected son may have weak, flaccid muscles and slow reflexes (hypotonia). Klinefelter syndrome could make him clumsy, unbalanced, uncoordinated, and with poor posture. Ask your family physician to refer you to a physiotherapist familiar with Klinefelter syndrome.

Speech therapist: Your son may require help to understand complex language before he starts school. Ask your family physician for a referral to a speech therapist.

Occupational Therapist (OT): Your son may have motor dyspraxia, a nervous system disorder where he has difficulty planning and executing complex movements and tasks. Obsolete terms for dyspraxia are clumsy child syndrome, congenital maladroitness, and sensory integration disorder. Dyspraxia often co-occurs with learning disabilities, dyslexia, and attention deficit disorder. An Occupational Therapist (OT) can train your son to appear less clumsy. The OT can fit your child with small, inconspicuous, and inexpensive assistive devices, like pen grips.

Psychologist: Enlarged breasts place psychological stress on affected men, so seek help from a psychologist familiar with Klinefelter syndrome.

Special Ed: Get a thorough psychoeducational examination through your son’s school. The written evaluation you will receive from the Special Education Department lists your son’s strengths and weaknesses, and recommends an appropriate classroom placement. A psychoeducational exam will list additional resources available in your area, so you can tailor your son’s education.

Surgeon: You may want to consult a surgeon about mastectomy (breast removal). Gynecomastia increases the chance of breast cancer.

Fertility Experts: Not all men with Klinefelter syndrome are infertile. Some have oligospermia (low sperm production). If you wish to father a child and have a low sperm count, a fertility expert may be able to extract sperm directly from your testicles during a biopsy, choose one that is viable, and inject it into a woman’s egg. This process is called ICSI (intracytoplasmic sperm injection). The resulting child will not have a risk of developing Klinefelter syndrome above that of the general population. If the specialist finds more than one viable sperm, you may choose to have them frozen for future pregnancies. To-date, more than 60 children have been born to Klinefelter men around the world through ICSI.

What causes Klinefelter Syndrome

Klinefelter syndrome occurs after the mother’s egg is fertilized. Chromosome pairs are supposed to separate, so that two daughter cells receive one chromosome each. In Klinefelter syndrome, the pair does not disjoin (separate). Both of the chromosomes in the pair go to one daughter cell. The other daughter cell receives none. This problem happens more frequently in older mothers, and is called meiotic nondisjunction.

As a result of this genetic problem, the Klinefelter syndrome baby develops an abnormal pituitary gland, testicles, and hypothalamus portion of the brain. The boy’s testicles degenerate, so they often cannot produce enough sperm in later life. Healthy tissue is replaced by clear, glassy collagen fibers, called hyaline. The boy has scar tissue (fibrosis) in his seminiferous tubules, where his sperm form.

Feminine breasts develop in late puberty for 50% of Klinefelter syndrome adolescents. Urine tests show elevated gonadotropin levels, which mean the male is sterile. Psychosocial problems and low self-esteem result from the feminizing effects of the hormone estradiol.

When should I tell my son he has Klinefelter syndrome?

Experts recommend explaining to your affected child that he has Klinefelter syndrome when he reaches his mid-to-late teens. He should be old enough by then to understand its implications. Give him a copy of the booklet available at http://www.klinefeltersyndrome.us. Knowing that there is hope and that there are treatments that may help him to deal with his symptoms.

Adult Men
Most men with Klinefelter syndrome do not exhibit symptoms. You may first notice a problem when you experience:

• Lack of libido
• Sexual Dysfunction (SD)
• Infertility
• Varicose veins that tend to ulcerate or clot (thrombosis)
• Mitral valve prolapse
• Poor self-esteem
• Psychological distress

Klinefelter Facts

• Girls do not develop Klinefelter syndrome
• It does not occur more in one race than any other
• Klinefelter syndrome does not decrease the longevity of boys
• Most males with the syndrome are undiagnosed until adulthood, when they have reproductive problems
• Older mothers tend to produce more Klinefelter syndrome babies

What are the variants?

• 80%—90% of affected boys have 47,XXY (one additional X chromosome). Most boys with the 47,XXY karyotype have normal intelligence.
• 10% have mosaicism (46,XY/47,XXY). Men with Klinefelter syndrome mosaicism are often fertile and can father a child through modern technology.
• Very rare and more serious variants are 48,XXYY; 48,XXXY; 49,XXXYY; 49,XXXXY; 47,X,i(Xq)Y and 47,X,del(X)Y). Boys with these rare variants have mental retardation that increases with more X chromosomes.

Statistics

• Most males who are infertile and have small testicles (grape size) due to a chromosomal disorder have Klinefelter syndrome with a 47,XXY karyotype (extra X and Y chromosomes) or a variant.
• In Australia, 1 in 650 males is born with Klinefelter syndrome.
  
• In the U.S.A., 1 in 500—1,000 males has an extra sex chromosome.
  
• Klinefelter syndrome is dramatically underdiagnosed.
• If your healthcare practitioner is unfamiliar with the finer details of Klinefelter syndrome, there is a free booklet available at http://www.klinefeltersyndrome.us

What is Klinefelter's Syndrome?

These are a number of websites that can help you understand Klinefelter's Syndrome. A simple search on Google can help find a number of these sites.

Also the website http:www.klinefeltersyndrome.us has available a downloadable booklet that describes Klinefelters in detail and has lots of other information on the site as well. Lots of good links to other organisations that can help.

Klinefelter syndrome is the most common cause of male infertility. It is a sex chromosome variation that occurs in 1 in 500 males (independent of ethnic origin). Most men do not demonstrate symptoms. Normally, males have one X chromosome in their cells. Males affected with Klinefelter syndrome have at least one extra X chromosome in most of their cells. The extra chromosome impacts their:

• Bone strength
• Energy level
• Hair growth
• Height
• Hip girth
• Language development
• Learning
• Muscle mass
• Social development
• Thought processes

Klinefelter syndrome is also known as XXY syndrome.

How can I detect it?

Babies and Toddlers
A geneticist can diagnose Klinefelter syndrome before your son is born through a fetal cytogenetic analysis.

Your pediatrician may suspect Klinefelter syndrome if your infant son has:

• Developmental delay
• Undescended testicles (cryptorchidism)
• Pea-sized testicles
• Hypospadias (urine dribbles out of an opening on the underside of his penis)

However, 75% of boys with Klinefelter syndrome develop normal height and weight until they reach age 4 or 5. In 25% of boys, there is a telltale condition called clinodactyly, where the little finger curves toward the ring finger because the middle bone is wedge-shaped instead of rectangular.

School-age Boys
Your pediatrician may investigate your school-age son for Klinefelter syndrome if he has this characteristic appearance:

• Tall stature
• Knock-knees (genu valgum)
• High arches (pes cavus)
• Protruding lips
• Projecting jaw (prognathism)
• Very widely-spaced eyes (hypertelorism)
• If he is Caucasian or Black, epicanthal skin folds on his upper eyelids at the inner corner, giving him an oriental look
• Poor coordination
• Fused bones in his forearms that make it difficult for him to rotate his arms (radioulnar synostosis)
• Quiet, tractable personality with occasional tantrums and aggression

You may ask your pediatrician to investigate your son for Klinefelter syndrome if he has:

• Attention Deficit Disorder (ADD)
• Learning disability (especially dyslexia, reading difficulty, and data retrieval problems)
• Mental retardation (IQ drops 15 points for each additional X chromosome)
• Poor expressive and receptive language skills
• Poor short term memory
• Osteoporosis (bone thinning)
• Lack of sporting ability

Puberty
Your doctor may suspect Klinefelter syndrome when your boy reaches puberty if he has:

• High-pitched voice
• Sparse beard and body hair
• Gynecomastia (enlarged breasts)
• Feminine fat distribution
• Taurodontism (enlarged molar teeth)
• Breast cancer or germ cell tumors from elevated estradiol

If your doctor suspects your son has the androgen deficiency that accompanies Klinefelter syndrome, he will likely be sent to a lab for these blood tests:

• FSH (follicle stimulating hormone)
• LH (luteinizing hormone)
• Estradiol
• Testosterone (available worldwide at http://hormonesolutions.com.au)
  

You may ask your doctor to perform genetic screening for Klinefelter syndrome if your son exhibits:

• Inability to deal with stress
• Psychological problems, like anxiety, neurosis, depression, or psychosis