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Paeds Casesgenetics-dysmorphology-and-metabolism

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.

osce communication and shared decision-making2 min readVerification in progress

Target exams

MRCPCH ClinicalRACP DCERCPSC Pediatrics
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Target exams

MRCPCH ClinicalRACP DCERCPSC Pediatrics
Prompt
A couple is referred to the paediatric clinic at twenty weeks of gestation after cell-free DNA screening flagged a sex chromosome aneuploidy, confirmed as 47,XXY by amniocentesis. They have read online that their son will be intellectually disabled, infertile, and unable to live independently. They are frightened, tearful, and considering termination. They do not understand what an extra X chromosome means. Counsel them.

Candidate brief

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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References3ShowHide
  1. [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. [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. [3]Gies I, Unuane D, Velkeniers B, De Schepper J. Management of Klinefelter syndrome during transition. Eur J Endocrinol, 2014.PMID 24801585
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