Klinefelter syndrome: Early treatment of the adolescent is not warranted

Matthew J. Katz, Ranjith Ramasamy, Peter N. Schlegel

Research output: Chapter in Book/Report/Conference proceedingChapter


Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men, diagnosed 1 in 600 newborn males. Young boys with KS typically display various hormonal abnormalities and spermatogenic degeneration before the completion of puberty. There is controversy as to the optimal time to begin fertility treatment in KS patients. While early intervention has been proposed, treatment of KS adolescents is not warranted based on currently available data. Early intervention, including testosterone therapy and testicular biopsy can result in long-term adverse effects. Cryopreservation of spermatogonial stem cells during adolescence is of unknown benefit. Sperm retrieval rates in KS adults are better than retrieval rates from adolescents and comparable or better than rates seen in other men with nonobstructive azoospermia. Hormonal optimization followed by testicular sperm retrieval in an adult remains the proven standard of treatment for fertility management of KS patients.

Original languageEnglish (US)
Title of host publicationBiennial Review of Infertility
PublisherSpringer International Publishing
Number of pages9
ISBN (Print)9783319178493, 9783319178486
StatePublished - Jan 1 2015
Externally publishedYes


  • Adolescent
  • Cryopreservation
  • Hormonal therapy
  • Klinefelter syndrome
  • Nonobstructive azoospermia
  • Testicular sperm extraction (TESE)
  • Treatment

ASJC Scopus subject areas

  • Health Professions(all)
  • Medicine(all)


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