Fertility management of Klinefelter syndrome

ABSTRACT

Introduction: Klinefelter syndrome (KS) represents the most common chromosomal abnormality in the general population, and one of the most common genetic etiologies of nonobstructive azoospermia (NOA) and in severe oligospermia. Once considered untreatable, men with KS and NOA now have a variety of treatment options to obtain paternity.

Areas covered: The cornerstone of treatment for both KS and NOA patients remains the surgical retrieval of viable sperm, which can be used for intracytoplasmic sperm injection to obtain pregnancy. Although the field has advanced significantly since the early 1990s, approximately half of men with KS will ultimately fail fertility treatments. Presented is a critical review of the available evidence that has attempted to identify predictive factors for successful sperm recovery. To optimize surgical success, a variety of treatment modalities have also been suggested and evaluated, including hormonal manipulation and timing of retrieval.

Expert opinion: Individuals with KS have a relatively good prognosis for sperm recovery compared to other men with idiopathic NOA. Surgical success is heavily dependent upon surgical technique and the experience of the andrology/embryology team tasked with the identification and use of testicular sperm.

KEYWORDS:

• Fertility preservation
• hormonal manipulation
• Klinefelter syndrome
• microTESE
• sperm retrieval rate
• surgical sperm retrieval

Article highlights

• Men with Klinefelter Syndrome will have viable sperm found at the time of surgical sperm retrieval in at least 40% to 50% of cases

• No clear or robust presurgical indicators have been found to predict which patients may have sperm identified at the time of surgery

• Appropriate and careful hormonal manipulation may optimize the chances of surgical success

• Peripubertal sperm retrieval does not appear to improve sperm recovery rates and should not be routinely offered

• Fertility preservation for the peripubertal Klinefelter male remains an area of ongoing research, and should only be considered under a monitored protocol

Acknowledgments

Salary support provided by Frederick J. and Theresa Dow Wallace Fund of the New York Community Trust, Mr. Robert S. Dow Foundation, and the Irena and Howard Laks Foundation.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This manuscript was not funded.