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Most boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives. Infertility tends to be the main problem, although there are treatments that can help.
About
- There is an additional X chromosome in a male
- Klinefelter's syndrome occurs in 1 in 500 Males with 47XXY though
- Mosaics exist of 46XY/47XXY
Aetiology
- Klinefelter syndrome is caused by a random genetic event during the formation of reproductive cells (eggs or sperm) or in early fetal development.
- The condition is not inherited but occurs due to a nondisjunction event, where the X chromosomes fail to separate properly during meiosis.
- As a result, an individual with Klinefelter syndrome has an extra X chromosome in each cell.
Clinical
- Dysgenesis of the seminiferous tubules which become scarred and hypogonadism results.
- Patients tend to be tall long legs and thin with Gynaecomastia
- Failure of puberty with normal penis and scrotum but small testes.
- Long leg length as puberty and epiphyseal closure delayed
- Increased risk of breast cancer and osteoporosis
- Absence of frontal balding with age and poor beard and secondary sexual hair growth
- Delayed speech and language development
- Learning difficulties, particularly in reading and writing
- Shyness, social difficulties, and low self-esteem
- Mild cognitive impairment
- Attention and concentration problems
Investigations
- Hormone Testing: Blood tests to measure levels of testosterone and other hormones.
- Karyotype Analysis: A blood test that examines chromosomes to identify the presence of an extra X chromosome.
- Prenatal Testing: Klinefelter syndrome can be detected before birth through procedures like amniocentesis or chorionic villus sampling (CVS), which analyze fetal chromosomes.
Management
- Testosterone Replacement Therapy (TRT): Helps to improve symptoms related to low testosterone levels, such as muscle strength, facial and body hair growth, and mood.
- Fertility Treatment: Options like intracytoplasmic sperm injection (ICSI) may be available for some men with Klinefelter syndrome who wish to father children.
- Educational Support: Specialized support in school for learning disabilities, speech therapy, and language development.
- Psychological Support: Counseling and therapy to address social, emotional, and behavioral challenges.