How is infertility treated in patients with Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Until 1996, men with Klinefelter syndrome were considered infertile. Since then, however, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to sire their own children. Success has been achieved through a combination of microsurgical testicular sperm extraction (TESE) and the use of freshly retrieved sperm for in-vitro fertilization (IVF). [4, 5, 6, 7, 8]  TESE is the process of removing a small portion of testicular tissue under local anesthesia and extracting the few viable sperm present in that tissue for intracytoplasmic sperm injection (ICSI). Intracytoplasmic sperm injection (ICSI) has offered XXY men an increased chance to father a child. A study of 42 men with Klinefelter syndrome revealed a sperm retrieval rate of 72% per testicular sperm extraction attempt, with adequate sperm for ICSI found in 69% of subjects (29 of 42 men). Thus, TESE and ICSI may be considered for males with azoospermia and Klinefelter syndrome. [4]  

Men with Klinefelter mosaic cell lines may have viable sperm in their ejaculate and hence be able to father a child without assisted reproductive technology.

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