Klinefelter’s Syndrome

Klinefelter’s syndrome

Klinefelter syndrome is a genetic condition that occurs in males when they have an extra X chromosome, resulting in a genotype of 47XXY instead of the typical 46XY. This additional X chromosome can lead to a number of problems with fertility, testicle development and hypogonadism (low testosterone blood levels).

Pippa Sangster is a world expert in this syndrome and has looked after many thousands of men with this problem. She runs a Klinefelter specific clinic within her NHS practice, “KF-Xtra clinic” and understands the endocrine, psychological and andrological issues of men who have been diagnosed as carrying an extra X chromosome.

Common characteristics of Klinefelter syndrome (KS) may include:

Reduced fertility: One of the primary effects of KS is reduced fertility. The majority of KF men will not have sperm in their semen, although they will still produce an ejaculate. It is estimated that 4% of patients might be found to have low numbers of sperm within the ejaculate. The majority of men will require a MicroTESE in order to obtain sperm that can be frozen for future IVF cycles with their partners.
Low testosterone: Many of these men will require hormonal stimulation. It is important to understand that giving exogenous testosterone will make the infertility worse. Pippa uses a stimulation protocol with HCG treatment in patients wanting to improve fertility outcomes.
Gynecomastia: Enlargement of breast tissue, known as gynecomastia, can occur due to hormonal imbalances.
Tall stature: In general, individuals with Klinefelter syndrome tend to be taller than average, with an average increase in height of about 3 to 4 inches (7.5 to 10 centimeters) compared to men without the condition. However, it’s important to note that not all men with Klinefelter syndrome will necessarily be taller than average.
Reduced muscle mass and strength.
Learning and developmental difficulties: Some individuals with KS may experience learning disabilities or delayed development in speech and language skills. Again this is very variable.