Klinefelter Syndrome Flashcards
What is the cause of Klinefelter Syndrome?
Klinefelter Syndrome occurs when a boy is born with an extra X chromosome (XXY), resulting in 47 chromosomes instead of the usual 46.
It affects approximately 1 in 600 males.
Physical characteristics of Klinefelter Syndrome
Physical Characteristics:
Small penis
Testes that do not function properly
Low muscle tone
Reduced facial or body hair
Long limbs
Tall stature with broader hips
Shorter torso
What are some developmental delays of Klinefelter’s syndrome
Delayed or incomplete puberty
Mild delays in speech and motor development
Do people with KS have high or low energy levels?
Low energy levels
What are some health risks of Klinefelter’s?
Health Risks:
Increased risk of type 2 diabetes
Weak bones (osteoporosis)
Autoimmune diseases
Higher likelihood of developing breast cancer
How is Klinefelter’s diagnosed?
Blood Test: Diagnosis is confirmed through a karyotype blood test to check for the presence of the extra X chromosome.
How can Klinefelter’s be managed and treated?
Management and Treatment:
Testosterone Replacement Therapy: Can be administered via gel, tablets, or injections to address low testosterone levels, which can help develop more typical male characteristics and improve energy.
Plastic Surgery: May be considered for gynecomastia (enlarged breast tissue).
Physical Therapy: Helps improve muscle tone and strength.
Psychological Support: Therapy and support groups can help manage behavioural and emotional issues.
Fertility Treatment: Options such as assisted reproductive technologies (ART) may be explored.
What are the fertility rates for men with Klinefelter’s?
Majority (95-99%) of males with KS are infertile.
What are the learning and behavioral issues associated with Klinefelter’s?
Learning and Behavioral Issues:
Common to have mild learning disabilities
Potential behavioral problems such as anxiety and depression
