Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel an adolescent and her family on a new Turner syndrome diagnosis — OSCE
OSCE communication and shared decision-making station: explaining to a 13-year-old girl and her parents what a new Turner syndrome diagnosis means, what the karyotype found, what the growth-hormone and oestrogen management involves, why the aortic surveillance is lifelong, what the fertility implications are, and how the family can support her — while addressing the parents' grief, the adolescent's anxiety about being different, and the temptation to defer fertility and cardiac conversations because she is young.
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Counsel the family. You have five minutes. Demonstrate an organised, empathic, and accurate explanation that addresses the five questions a fellowship communication station rewards: what the diagnosis means and what the karyotype found, what the medical plan is, why the aortic surveillance is lifelong, what the fertility implications are, and how the family can support her. The framework follows the 2017 international Turner syndrome guideline. [1]
References4ShowHide
- [1]Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol, 2017.PMID 28705803
- [2]Sybert VP, McCauley E. Turner's syndrome. N Engl J Med, 2004.PMID 15371580
- [4]Hadnott TN, Gould HN, Gharib AM, Bondy CA. Outcomes of spontaneous and assisted pregnancies in Turner syndrome. Fertil Steril, 2011.PMID 21496813
- [8]Trolle C, Mortensen KH, Hjerrild BE, et al. Clinical care of adult Turner syndrome--new aspects. Pediatr Endocrinol Rev, 2012.PMID 22946288