Klinefelter Syndrome
At Montefiore Einstein Urology, you can access exceptional care for Klinefelter syndrome. As a global leader in urology, we are an academic-based, national and international referral site for the most complex and high-risk cases. For more than a century, we have been at the forefront of innovation, research and clinical care for genitourinary (GU) conditions.
Ranked in the top 1% of all hospitals in the nation for urology according to U.S. News & World Report, Montefiore Einstein continues to make advances in the diagnosis and treatment of GU conditions. Our multidisciplinary team of world-renowned specialists is passionate about uncovering the latest diagnostic approaches and treatments that can improve outcomes.
At Montefiore Einstein Urology, you can expect compassionate, personalized, research-driven treatment plans that meet the highest standards for quality and safety. In addition, we offer patients a full range of support services, from nutritional guidance to rehabilitative therapies.
When you need Klinefelter syndrome care, turn to our dedicated multidisciplinary team for a personalized treatment plan.
Montefiore Einstein offers the following content from Healthwise’s health information library.
What Is Klinefelter Syndrome?
Klinefelter syndrome is a genetic condition that results when a male is born with an additional copy of the X chromosome. This syndrome may adversely affect testicular growth, resulting in smaller than average testicles, which can lead to lower production of testosterone. The effects of Klinefelter syndrome vary, and not everyone experiences the same signs and symptoms.
Causes of Klinefelter Syndrome
Causes of Klinefelter syndrome include:
- Most commonly, an additional copy of the X chromosome in each cell (XXY)
- An additional copy of the X chromosome in certain cells (mosaic Klinefelter syndrome), associated with fewer symptoms
- In rare cases, more than one additional copy of the X chromosome
Signs & Symptoms of Klinefelter Syndrome
Symptoms of Klinefelter syndrome vary widely depending on the age of the patient. Males with Klinefelter syndrome often experience few or mild symptoms, and the condition may remain undiagnosed until adulthood or may never be diagnosed. In other patients, Klinefelter syndrome has a noticeable effect on growth or appearance. Symptoms include:
Infants
- Delayed motor development
- Delayed speech/verbal communication
- Related congenital conditions, including undescended testicles
- Weak muscles
Boys & Teenagers
- Absent, delayed or incomplete puberty
- Difficulty in reading, writing, spelling or math
- Difficulty socializing and articulating thoughts and feelings
- Enlarged breast tissue
- Longer legs, a shorter torso and broader hips compared to boys in healthy condition
- Low energy
- Post puberty, decreased muscle tone and facial and body hair compared to teenage boys in healthy condition
- Small, firm testicles
- Small penis
- Taller than average stature
- Tendency to be shy and/or sensitive
- Weak bones
Men
- Decreased facial and body hair
- Decreased muscle tone
- Enlarged breast tissue
- Increased abdominal fat
- Low sex drive
- Low to no sperm count
- Small testicles and penis
- Taller than average height
- Weak bones
Diagnosing Klinefelter Syndrome
Klinefelter syndrome can be diagnosed during fetal development, childhood, adolescence or adulthood. Patients with mild or asymptomatic cases of Klinefelter syndrome may never even know they have the condition.
If Klinefelter syndrome is suspected, your urologist may order tests to detect and identify an additional X chromosome. A karyotype blood test is often used to determine the number and types of chromosomes present.
Treating Klinefelter Syndrome
Treatments for Klinefelter syndrome include:
- Hormone replacement therapy, including testosterone gels, patches or subcutaneous pellets
- Therapy with speech-language pathologists and physical, occupational and family therapists
- Treatment of co-existing medical conditions