Abstract
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.
Highlights
Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males with an estimated prevalence of 1/660 males and is caused by the presence of one extra X chromosome to a normal karyotype (47, XXY) (Radicioni et al 2010)
Our study explores the opinion of KS patients and KS parents concerning the best timing, topics, and Healthcare professionals (HCPs) who should communicate the diagnosis to KS children/adolescents
Our results show that most prenatal age diagnosis (PRE-D) mothers and fathers prefer KS diagnosis communication at 14–18 years of age, while most KS patients and POSTD parents indicate that the best timing for KS diagnosis communication is before 14 years of age
Summary
Klinefelter syndrome (KS) is the most frequent sex chromosome aneuploidy in males with an estimated prevalence of 1/660 males and is caused by the presence of one extra X chromosome to a normal karyotype (47, XXY) (Radicioni et al 2010). An increasing proportion of KS diagnoses occurs during prenatal cytogenetic testing by means of karyotype analysis (Bearelly and Oates 2019; Davis et al 2016; Radicioni et al 2010; Tartaglia et al 2008; Visootsak and Graham Jr 2006). When a chromosomal aneuploidy is diagnosed during prenatal age/childhood, parents often face the decision of “how and when” to disclose the diagnosis to their child. Understanding at which age communication should occur would be useful since it may influence diagnosis acceptance. Previous evidence reports that age of diagnosis communication negatively correlates with adaptation, suggesting that older participants experience more challenges throughout their lives compared to younger subjects (Turriff et al 2015). Common concerns among KS parents include disclose timing, uncertainty about what words to use or how to discuss this issue in relation to age (Dennis et al 2015). Issues with body image, self-esteem, or bullying may be more relevant among adolescents and young adults, while infertility may raise more concerns among people who desire to start families (Turriff et al 2015)
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