PE29.4 | Turner Syndrome — Summary & Reflection

KEY TAKEAWAYS

Turner syndrome is a sex-chromosome aneuploidy affecting ~1 in 2,000–2,500 live female births. The cardinal karyotype is 45,X (~50%), with mosaic variants (45,X/46,XX ~30–40%) and structural X abnormalities (~10–20%). Clinical hallmarks are short stature (universal, due to SHOX haploinsufficiency), primary amenorrhoea (due to gonadal dysgenesis — streak gonads), and somatic features (webbed neck, shield chest, lymphoedema, cubitus valgus). Major associated complications: bicuspid aortic valve/aortic coarctation (~30% CHD), horseshoe kidney, and autoimmune thyroiditis. Biochemically: elevated FSH/LH (hypergonadotropic hypogonadism) + low oestradiol. Management: GH therapy (~0.05–0.067 mg/kg/day) from early childhood to maximise height; oestrogen replacement from bone age ~11 years for pubertal induction and bone protection; cardiac MRI surveillance every 5–10 years. 45,X/46,XY mosaics require prophylactic gonadectomy (gonadoblastoma risk). Recurrence risk for subsequent pregnancies is not elevated above background.

REFLECT

Return to the 14-year-old in the opening hook. You now know her diagnosis is Turner syndrome. Consider: she is 14 years old and has just been told she may be infertile and will need hormone injections for the next 35 years. How do you balance giving complete medical information with protecting her emotional wellbeing at this vulnerable developmental stage? Reflect on who else should be present during that conversation (parents only, or does she have a right to information that is primarily about her own body?). Write three bullet points in your learning journal about what you would prioritise saying in your first 5 minutes with her and her family.