Patient C Medical Report

Patient Karyotype
external image Klinefeltersyndrome.jpg
Diagnoses Determined From Karyotype:
Klinefelter Syndrome

Genetic Characteristics of the Disorder:
Klinefelter Syndrome affects about 1 in 1,000 males. Males with Klinefelter Syndrome have an extra X chromosome, which leads to abnormalities in physical, mental, and social development.

Symptoms of Disorder/Lifestyle Expectatio
As infants, affected individuals often have weak muscles and reduced strength. This may result in them reaching developmental milestones later than other infants their age. Babies may also be quieter than unaffected individuals and as young children they often have low self-confidence and poor social skills. At around age four these individuals tend to be taller and have less coordination than others their age. Between 25 and 85 percent will have some sort of language development problem and some show subnormal intelligence.
As puberty is reached, males with Klinefelter Syndrome have trouble making as much testosterone as others males their age. This leads to them being taller and less muscular. They also can have wider hips, breast development, underdeveloped testes, and a low energy level as a result of this testosterone deficiency. At adulthood Klinefelter Syndrome patients are often more susceptible to certain health problems such as autoimmune disorders, breast cancer, osteoporosis, dental decay, and depression. Individuals with Klinefelter Syndrome can have normal sex lives but are often infertile due to poor sperm production.

Treatment Options:
To treat this syndrome parents can utilize special educational services, therapists, and medical professionals. Often, those with Klinefelter Syndrome are treated with Testosterone Replacement Therapy (TRT) which can help muscle development, hair growth, and a deepening of the voice. If you have any further questions please contact my office, I would be happy to answer any additional questions you may have.

Consulting Physicians

"Klinefelter Syndrome." NICHD - The Eunice Kennedy Shriver National Institute of Child Health and Human Development Official Home Page. 24 May 2007. Web. 25 Apr. 2010. <>.

Russell, Peter J. IGenetics: a Molecular Approach. 3rd ed. San Francisco: Benjamin Cummings, 2010. 347. Print.