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Klinefelters Syndrome Booklet

Klinefelters syndrome booklet

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Klinefelter Syndrome

Klinefelter Syndrome is a condition in which males have an extra X sex chromosome.

Also known as 47, XXY or XXY Syndrome

About the Condition

Klinefelter Syndrome, also known as XXY, is a genetic disorder affecting males from birth. It is a condition that is not life-threatening, but can have major quality of life implications throughout all stages of development from early childhood to adolescence to manhood.

The condition exists in roughly 1 out of every 1,000 males. One in every 500 males have an extra X chromosome but do not have the syndrome.

Often men are undiagnosed until mature adults, usually due to the inability to start a family and infertility tests identifying the condition. Such a late in life diagnosis often results in affected men feeling cheated, resentful, short-changed, cynical, embittered and angry because their childhood and adolescent years have generally been a struggle both academically, physically and emotionally. Their feelings of being hard done-by are often enhanced when the treatment, the bio-identical hormone testosterone, is so simple and readily available.

Next page: Symptoms of Klinefelter Syndrome

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Symptoms of Klinefelter Syndrome

The principal effects are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common, though severity varies and many boys and men with the condition have few detectable symptoms.

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

Next page: Causes of Klinefelter Syndrome

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Causes of 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 frequentlyin 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 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.

Diagnosis

Diagnosis can also be made prenatally via chorionic villus sampling or amniocentesis. Often diagnosis is not made until puberty when development compared to peers is less dramatic.

Commonly not detected until an adult male with investigation of infertility problems.

A karyotype is used to confirm the diagnosis

Progression

Psychological

Secondary Consideration: Psychological, relationship difficulties.

Next page: Treatments for Klinefelter Syndrome

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Treatment for Klinefelter Syndrome

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 characteristic, like a beard, body hair, and a male-pattern fat distribution.

When your son is 11 or 12 years old, the doctor will commence testosterone supplementation. Testosterone treatment options include injections, gels and scrotal cream.

Next page: Further Information about Klinefelter Syndrome

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For men

AndroForte® 2% Testosterone Cream is specially formulated for men with low blood testosterone levels.

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Download our Booklet

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Topics discussed in the Understanding Klinefelter Syndrome booklet include:

  • What is Klinefelter Syndrome?
  • How can I detect Klinefelter Syndrome?
  • When should I tell my son he has Klinefelter Syndrome?
  • What causes Klinefelter Syndrome?
  • What are my treatment options?
  • Role of Testosterone in humans?
  • Which Testosterone route is best for me?

Testosterone for Men FAQ's

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AndroForte 5 testosterone cream packaging

For men

AndroForte® 5% Testosterone Cream is specially formulated for men with low blood testosterone levels.

Downloadable Resources

AndroForte® 2

AndroForte 2 testosterone cream packaging

For men

AndroForte® 2% Testosterone Cream is specially formulated for men with low blood testosterone levels.

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