Fertility in Adolescents With Klinefelter Syndrome: A Survey of Current Clinical Practice

Abstract

Context: Progress has been made in determining the fertility timeline and potential in adolescents with Klinefelter syndrome; however, medical professionals are currently without protocols to guide treatment.

Objective: To evaluate the current practices regarding fertility and andrology care in adolescent males with Klinefelter syndrome.

Design: A 24-question survey was developed to elicit practitioner background/expertise and management practices. This was distributed to members of the Society for the Study of Male Reproduction, the Pediatric Endocrine Society, and the Endocrine Society.

Setting: N/A.

Patients: Adolescent males with Klinefelter syndrome.

Intervention: None.

Main outcome measured: Current practices regarding fertility and andrology care.

Results: 232 responses were received from 133 (57%) adult endocrinologists, 60 (26%) pediatric endocrinologists, and 39 (17%) urologists. Among these, 69% of respondents were in academics, 62% practiced for > 10 years, and 65% received formal training in Klinefelter syndrome. All specialties encouraged sperm banking in late puberty, however most disagreed with the practice in early puberty. Seventy-eight percent agreed that testicular biopsy should be offered if no sperm was found in the ejaculate. The perceived optimal age for testicular biopsy varied among specialists. Clinical symptoms of hypogonadism (28%), rising gonadotropin levels (15%), and testosterone levels (15%) were the most commonly cited reasons for initiation of testosterone replacement therapy.

Conclusion: Fertility preservation practices in adolescents with Klinefelter syndrome vary greatly within and among the specialties caring for these patients. These findings should guide future research and highlight the importance of establishing clinical practice guidelines.

Keywords: Klinefelter syndrome; andrology; fertility preservation; infertility; sperm.