Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel parents given a prenatal diagnosis of 47,XXY Klinefelter syndrome — OSCE
OSCE communication and shared-planning station: counselling parents given a prenatal diagnosis of 47,XXY Klinefelter syndrome on cell-free DNA screening confirmed by amniocentesis. Explain the phenotype variability, the meaning of the karyotype, the limitations of the published literature, the lifespan surveillance framework, and the fertility prospects including micro-TESE, using balanced, non-directive, strengths-based language while addressing fear and avoiding deficit framing.
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You have eight minutes to counsel a couple given a prenatal diagnosis of 47,XXY Klinefelter syndrome. The diagnosis is confirmed by amniocentesis karyotype. Use a structured, honest, empathic, balanced, non-directive, and strengths-based approach. The goal is informed decision-making, not persuasion. [1] [2]
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- [1]Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome--a clinical update. J Clin Endocrinol Metab, 2013.PMID 23118429
- [2]Tartaglia N, Howell S, Davis S, et al. Early neurodevelopmental and medical profile in children with sex chromosome trisomies. Am J Med Genet C Semin Med Genet, 2020.PMID 32506668
- [3]Gies I, Unuane D, Velkeniers B, De Schepper J. Management of Klinefelter syndrome during transition. Eur J Endocrinol, 2014.PMID 24801585