ESPE Abstracts (2015) 84 P-1-57

Attitudes of Parents of Klinefelter Boys and Flemish Paediatricians Towards Neonatal Screening and Fertility Preservation Techniques in Klinefelter Syndrome

Inge Giesa, Herman Tournayeb,c & Jean De Scheppera

aUZ Brussel, Division of Pediatric Endocrinology, Brussels, Belgium; bResearch Group Biology of the Testis, Department of Embryology and Genetics, Vrije Universiteit Brussel, Brussels, Belgium; cUZ Brussel, Centre for Reproductive Medicine, Brussels, Belgium

Background: Preserving spermatogonial stem cell (SSCs) in Klinefelter syndrome (KS) adolescents by testicular tissue banking to safeguard their fertility potential is under debate. While diagnosis of KS is frequently made in late adolescence or young adulthood, when testicular fibrosis is already present, this strategy may be an option when associated with in vitro culture and maturation of SSC.

Objective and hypotheses: To evaluate the attitude of the parents of KS boys as well as of the Flemish pediatricians with regard to early detection of KS and the different fertility preservation options in pubertal KS boys.

Method: 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 of KS boys were evaluated.

Results: All parents and 67% of the pediatricians consider neonatal screening for KS to be a good option, in view of early detection and treatment of medical and psychosocial complications. 83.3% of the parents agree on performing a testicular biopsy in their pubertal KS boy, 72.2% would be in favor of spermatozoa banking after masturbation, and 77.7% agree on spermatozoa banking after penile vibrostimulation or rectal electrostimulation under general anesthesia. Parents of boys presenting behavioral or mental problems tended to be less in favor of fertility preservation. 69% of Flemish pediatricians would counsel their KS patient in favor of early detection and cryopreservation of spermatozoa after masturbation, and 71.2% agrees on testicular biopsy to detect spermatozoa or eventually SSC’s for cryopreservation in minor KS patients.

Conclusion: The majority of KS parents and Flemish paediatricians, who completed the questionnaire, were in favour of neonatal screening of KS. Both sperm collection and SSC collection are highly appreciated by parents and paediatricians, despite the currently experimental character of these fertility preservation strategies.

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