Klinefelter syndrome is a non-hereditary genetic disease exclusive to men. It is characterized by an alteration in the number of chromosomes: the subjects who suffer from it in fact have an additional X chromosome, which leads to a reduction in testosterone levels and fertility.

Its presence affects sexual development due to progressive testicular damage. The reduced volume of the testicles is in fact the main symptom, present in almost all patients; this is associated, in more than 90% of cases, with an absence of spermatozoa. Since last September, Klinefelter syndrome has no longer been considered a rare disease, but a chronic one.

We talk about Klinefelter and fertility with two specialists of Humanitas: Dr. Alessandro Pizzocaro, andrologist and referent of the Klinefelter Italian Group promoted by Siams (Italian Society of andrology and medicine of sexuality), and with Dr. Luciano Negri, andrologist.

In Humanitas there is a multidisciplinary clinic dedicated to patients with Klinefelter’s syndrome, where andrologists, endocrinologists and surgeons work together.


Symptoms and diagnosis

In some cases, the syndrome occurs during childhood (with disorders in the development of language) and during puberty (which occurs at the same time as boys who do not suffer from it), in which in subjects who have testosterone defect you may have an impairment of development. About one third of subjects with Klinefelter syndrome have normal testosterone values, however, even in the lower-middle range.

Since Klinefelter Syndrome is frequently asymptomatic, in about half of cases it is diagnosed late in adulthood when people are trying to have children.

“The characteristic symptom is the presence of small testicles, a warning sign that is often ignored. It is therefore a good idea for young people to carry out an andrological examination during their first teenage years, in order to verify the state of health of the testicles and identify any suspicious signs at an early stage”, recommends Dr. Pizzocaro.


Klinefelter and fertility

“It was thought that the patient with Klinefelter was inevitably sterile, but today, although it is not easy, the recovery of sperm is possible. The lack of spermatozoa in the seminal fluid does not necessarily mean that these are not produced,” says Dr. Negri.

It should be noted that around 40% of patients and 16% of the cases could be identified as successful and lead to pregnancy. Children born to men with Klinefelter syndrome are healthy and do not run a greater risk of suffering as a result.


Removal of spermatozoa

TESE (Testicular Sperm Extraction) allows spermatozoa to be taken directly from the testicles and stored, thus ensuring that the patient has a chance of future fertilization.

The sampling can be carried out in a more traditional way, with the C-TESE technique or with MICRO-TESE (Microsurgical testicular sperm extraction). C-TESE provides access to the testicle and the removal of seminiferous tubules through the execution of two small scrotal cuts. The sample thus collected shall be subjected to laboratory analysis and, if possible, cryopreserved. The procedure is carried out in a day hospital. MICRO-TESE, on the other hand, is a more complex microsurgical operation and involves hospitalization, given that it is conducted under general anesthesia.

“Testicular damage seems to have progressed since the second half of adolescence, so it has always been considered necessary to surgically search for the presence of spermatozoa already in this age group. New evidence suggests that early intervention is not so relevant. Although further studies are needed, not having to stress children with surgery would be an advantage, with positive repercussions in psychological terms and on the testicular reserve,” concludes Dr. Pizzocaro.