Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience

Abstract

Little is known about disclosure of diagnosis to males with Klinefelter syndrome (KS) diagnosed before birth or during childhood, especially in Asian context. Insufficient preparation for disclosure communication could lead to the child's depression, anxiety, or disrupted self-esteem. This is an interventional and qualitative interview study with a brief self-reported survey. The study consists of three phases. In phase I, adults with KS were asked about their experiences and viewpoints toward KS disclosure and diagnosis through individual interviews. In phase II, unaffected adolescent males were given information about KS and then asked to give hypothetical answers to a questionnaire followed by a group interview, as if they had KS. In phase III, parents of children with KS were asked to complete a questionnaire followed by a group interview which included a discussion about their disclosure plans and their concerns. The parents were provided information obtained from adults with KS and unaffected adolescent males, and were then interviewed again as a group. We found that the most hurtful issues were discovering their infertility from KS and late disclosure. From the perspective of unaffected adolescent males, early disclosure in early or mid-teens in a neutral, supportive, and relaxed manner, along with information on benefits of hormonal treatment, the assurance of biological sex as "male," and avoidance of some sensitive words are strongly recommended, as a way to promote self-confidence and positive coping with the diagnosis. After intervention, the parents reported more confidence and less anxiety about disclosing the diagnosis to their children, and indicated that they would disclose KS at an earlier age. For unaffected adolescent males, though it is a hypothetical scenario and their reaction may differ from affected adolescents, unaffected adolescent males' viewpoints on how they might react are more or less representative of cultural changes for the new generation, especially in the Asian context. In addition, their viewpoints influenced parents' decision and genetic counseling plans for the diagnosis disclosure of KS to their children. We propose a preliminary guideline for KS diagnosis disclosure.

Clinical Spectrum and Causes of Delayed Puberty Among Patients Presenting to the Endocrine Clinic at Jinnah Postgraduate Medical Centre

“…We observed that the mean age of patients with KS was 25 years. KS has been reported to be severely underdiagnosed or diagnosed late in life, usually on workup for infertility; roughly 25% are diagnosed, and the mean age of diagnosis is in the mid-30s [ 19 ]. Bojesen also found that 65% to 85% of KS patients consulted doctors after the age of 25 years for overt hypogonadism signs [ 20 ].…”

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

“…Furthermore, 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. Few data are currently available in the literature on this issue and more evidence is needed to establish best practices (Suwannachat et al 2020;Tremblay et al 2016). Understanding at which age communication should occur would be useful since it may influence diagnosis acceptance.…”

“…Understanding at which age communication should occur would be useful since it may influence diagnosis acceptance. In the view of unaffected adolescent males, late disclosure may involve such disadvantages as greater difficulty in diagnosis acceptance (Suwannachat et al 2020 ). 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 ).…”

“…Some parents decide to disclose the diagnosis as soon as their son begins to ask questions related to his health. Others, instead, adopt the “seed-planting” strategy, which consists of an early disclosure at 3–4 years of age followed by subsequent conversations so that the child can continuously develop his understanding (Dennis et al 2015 ; Gratton et al 2016 ; Holmes-Siedle et al 1987 ; Robinson et al 1989 ; Suwannachat et al 2020 ). While some parents prefer to disclose information related to the syndrome gradually, others choose to wait for the “right time” in their son’s life (Close et al 2016 ; Dennis et al 2015 ; Mac Dougall et al 2007 ; Gratton et al 2016 ; Metcalfe et al 2008 ; Turriff et al 2017 ).…”

“…communication, and their subject group included only KS parents or very few adult KS patients(Suwannachat et al 2020) or individuals with other chromosome aneuploidies and did not provide quantitative evaluations(Dennis et al 2015). Indeed, Hanna et al (…”