Kleinfelter’s Syndrome

Question 1

What is Kleinfelter’s?

Answer 1

Klinefelter syndrome (KS), also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males

Question 2

Signs and symptoms

Answer 2

Taller than average stature.
Longer legs, shorter torso and broader hips compared with other boys.
Absent, delayed or incomplete puberty.
After puberty, less muscle and less facial and body hair compared with other teens.
Small, firm testicles.
Small penis.
Enlarged breast tissue (gynecomastia)
Some degree of language learning or reading impairment may be present

Question 3

Diagnosis

Answer 3

About 10% of KS cases are found by prenatal diagnosis.
The first clinical features may appear in early childhood, or more frequently, during puberty, such as lack of secondary sexual characteristics and aspermatogenesis.

Another quarter receive their diagnosis is made incidentally as a result of examinations and medical visits for reasons not linked to the condition

Question 4

Treatment

Answer 4

The genetic variation is irreversible, but individuals who want to look more masculine can take testosterone
Treating adolescents with implants of controlled-release testosterone has shown good results when appropriately monitored.
Hormone therapy is also useful in preventing the onset of osteoporosis.