Klinefelter Syndrome
Klinefelter Syndrome
It is an genetical abnormality in which boy born with one extra copy of X chromosome. Generally it diagnosed during childhood or adulthood. There is reduce production of testosterone in this syndrome.
Symptoms
Signs and symptoms depend upon the age, in babies following sign included:
- Delay in speaking
- Muscles weakness
- Delay motor development
- Undescended testes
In boys Signs and symptoms may include:
- Taller stature
- Broader hips
- Absent puberty
- Less muscle mass
- Small testicles
- Small penis
- Low energy
- Weak bones
- Low sperm count
Causes
It is an inherited condition in which there is one extra copy of X chromosome in each cell or extra X chromosome in some cells.
Complications
Complications of Klinefelter syndrome may include:
- Osteoporosis
- Social and emotional behavior
- Depression
- Anxiety
- Heart diseases
- Lung disease
- Metabolic disorder
Diagnosis
It is generally diagnosis at clinical by physical examination and detailed history examination. For confirmation your doctor might recommend the following tests:
- Chromosomal analysis to check the chromosomal defect
- Hormonal test to check the testosterone level in blood
Treatment
There is no way to repair the chromosomal defect but there is supportive management present which decrease the signs and symptoms, treatment options included:
- Speech and physical therapy for muscles weakness
- Mastectomy to remove the extra breast tissue
- Educational support to boys who have trouble in socializing with other peoples
- Testosterone replacement therapy
- Psycotherpay