Partnering with parents to disclose Klinefelter syndrome to their child

Abstract

In paediatrics, a diagnosis of Klinefelter syndrome can occur after prenatal testing or because of symptoms such as learning difficulties or incomplete puberty. After the diagnosis, parents have to decide when and how to speak about this condition to their child. Parents and healthcare professionals (HCPs) may have different perceptions related to disclosure of this diagnosis. Due to the absence of clear guidelines, parents and HCPs may feel uncomfortable discussing the condition and may hide the truth in a prolonged fashion.

Conclusion: For patients with a prenatal diagnosis, we recommend a gradual and personalised disclosure process starting between the ages of 5 and 13 years. For older patients, a personalised approach should also be the goal. Various communication strategies and recommendations regarding disclosure of Klinefelter syndrome are proposed.

Keywords: Disclosure; Family-centred care; Klinefelter syndrome; Parental perspectives; Sex chromosome aneuploidies; Truth telling; XXY syndrome.