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Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males. KS diagnosis disclosure has an important impact on diagnosis acceptance and the increase in prenatal diagnostic procedures raises questions regarding communication to children/adolescents. Limited data are currently available on this issue. The aim of the study was to investigate aspects like the best timing (when), topics (how), and healthcare professional (who), which, in the opinion of both KS patients and parents, may be considered the best for diagnosis communication to KS children/adolescents. We also analyzed how participants received the communication in real life and evaluated the differences between the responses given by parents who receive KS diagnosis before or after KS patient birth regarding disclosure of KS communication. KS adult patients, KS mothers, and KS fathers, not belonging to the same family, completed a questionnaire containing quantitative measures (5 points Likert scale), open-ended questions, and multiple choice questions. Parental responses were divided according to the timing at which the communication occurred: prenatal age diagnosis (PRE-D) or postnatal age diagnosis (POST-D). A total of 41 KS adults and 77 KS parents (53 PRE-D, 24 POST-D) were recruited. Most KS patients and most POST-D parents consider that communication should be provided before 14 years of age; most PRE-D parents consider 14–18 years of age the best period for communication. We suggest that communication should occur preferably before 18 years of age by a multidisciplinary team (endocrinologists, psychologists, geneticists, and parents) and that the information should deal not only fertility and hormonal aspects but also metabolic and cognitive features.

Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?