Klinefelter syndrome and Desire for Children

06/22/2009 - Questions and Answers

Klinefelter syndrome and Desire for Children

By: Novoviva webmaster



I was told 2 years ago that I have Klinefelters syndrome and I really want children. I have been told to have a biopsy to see if I have any sperm.

I would like to know exactly what the procedure is before I do this. Can you help?


Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome, and the most common symptom is infertility. Therefore, most patients with Klinefelter syndrome are not able to father children. However, there are some cases of men with an extra X fathering healthy offspring, sometimes with the aide of infertility specialists. Advances in fertility treatment, such as sperm extraction, in vitro fertilization (IVF), and intracytoplasmic sperm insertion (ICSI), can result in conception without abnormalities or mutations of chromosomes. Additional options are donor insemination or adoption. Through ICSI, a single sperm can be directly injected into an oocyte (egg). This procedure is usually a second-line option after IVF has failed, or for males with a severe reduction in sperm count, which can apply to patients with Klinefelter syndrome.

A testicular biopsy is usually performed: to check if a man's sperm is abnormal. This procedure can be done in a doctor's office or in the hospital. First, an area on the scrotum, the pouch that contains the testicles, is cleaned with an antiseptic. This area is then injected with a local anaesthetic. When the skin is numb, a small cut is made in the scrotum and a small piece of testicular tissue is removed. The cuts in the testicle and scrotum are then closed with stitches. The biopsy sample is taken to a laboratory and studied.

Related Links
Klinefelter Syndrome
Klinefelter Syndrome and fertility
Further Resources

Created on: 10/09/2006
Reviewed on: 06/22/2009

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