KLINEFELTER SYNDROME

Resident’s Name: Joanne Lewis Date: October 3, 2008

KLINEFELTER SYNDROME
What is affected in the syndrome? Common symptoms of Klinefelter syndrome include:
• Infertility
• Abnormal body proportions (long legs, short trunk)
• Tall
• Gynecomastia (w/ increased risk of breast cancer)
• Small penis and testicles
• Very sparse facial, armpit, and pubic hair
• Learning disabilities, despite normal or high IQ
• Dyslexia
• Difficulty with speech and language development
• ADHD
• Depression
• Taurodontism
Why? Klinefelter's syndrome or XXY syndrome is a condition caused by a chromosome aneuploidy. Affected individuals have at least two X chromosomes and at least one Y chromosome. The additional sex chromosome results from a random error during the formation of the egg or sperm. It occurs in about 1 in 500 live male births.
When in the child’s life is the diagnosis made? School-aged children may be diagnosed if they are referred to a doctor for evaluation of learning disabilities; adolescent males may be diagnosed when puberty does not progress normally. Adult males may be diagnosed when they present to the doctor due to infertility.
Why are we interested? Taurodontism is very common in patients with Klinefelter syndrome.
What are other systemic/medical conditions associated with the syndrome that are critical concerns if patient needs dental care? Children with KS may be difficult to treat due to behavior problems (ADHD). In addition, patients with KS show an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis, and Sjogren’s syndrome.
Information that has been learned recently: A recent study found a group of XXY males diagnosed between the ages of 27 and 37 to have suffered a number of setbacks, in comparison to a similar group of XY males. The XXY men were more likely to have had histories of scholastic failure, depression and other psychological problems, and to lack energy and enthusiasm. But by the time the XXY men had reached their forties, most had surmounted their problems. The majority said that their energy and activity levels had increased, that they were more productive on the job, and that their relationships with other people had improved. In fact, the only difference between the XY males and the XXY males was that the latter were less likely to have been married.
Items of interest: Patients with KS can be treated with testosterone therapy to increase muscular development, grow body hair, elevate mood and self-esteem, and improve concentration.