Attitudes of parents of Klinefelter boys and pediatricians towards neonatal screening and fertility preservation techniques in Klinefelter syndrome

UNLABELLED: To evaluate the attitude of parents of Klinefelter syndrome (KS) boys and pediatricians with regard to early detection of KS and fertility preservation, a specific questionnaire investigating the acceptability towards neonatal screening for KS and the use of testicular biopsy and sperm collection was designed. The responses of 49 pediatricians and 18 parents were evaluated. All parents and 67 % of the pediatricians consider neonatal screening for KS to be a good option. A total of 83.3 % of the parents agree on performing a testicular biopsy in their pubertal KS boy, 72.2 % are in favor of banking spermatozoa after masturbation while 77.7 % agree on spermatozoa banking after penile vibro-stimulation or rectal electro-stimulation under general anesthesia. Sixty-nine percent of pediatricians would counsel parents and KS adolescents in favor of early detection and cryopreservation of spermatozoa after masturbation, and 71.2 % agrees on testicular biopsy to detect spermatozoa or eventually spermatogonial stem cells (SSCs) for cryopreservation in minor KS patients.

CONCLUSION: The majority of KS parents and pediatricians, completing a specific designed questionnaire on fertility preservation modalities, were in favor of neonatal screening of KS. Both sperm collection and SSC collection are highly appreciated by parents and pediatricians, despite the currently experimental character of these fertility preservation strategies.

WHAT IS KNOWN: • Neonatal diagnosis (by use of dried blood samples) of KS can potentially be used for population-based screening for KS, thereby increasing the underdiagnosing of the syndrome. • During childhood, KS boys develop a gradual decrease of spermatogonial stem cells, leading to total fibrosis of the testis and infertility in adulthood. What is new: • The majority of KS parents and general pediatricians in our study were in favor of neonatal screening of KS. • Both sperm collection and SSC collection are highly appreciated by parents and pediatricians, despite the currently experimental character of these fertility preservation strategies.