Turner Syndrome – Board-Style Questions

What this deck covers

Turner syndrome in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Puffy hands at birth
2. A normal result that isn’t
3. A screening result in pregnancy
4. Measuring the aorta
5. A silent shape
6. Listening carefully
7. No test needed
8. Starting puberty
9. Unexpected bleeding
10. Puberty on her own
11. Planning a pregnancy
12. Raised liver enzymes
13. At school
14. Sugar in later life
15. Strong bones
16. Before surgery
17. A normal scan is not the end
18. A Y chromosome

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A peripheral blood karyotype, Reassure the family that a chromosome cause is excluded, The fetus certainly has Turner syndrome, As normal, since it is below the adult cut-off, A renal ultrasound, looking for a horseshoe kidney, A review of her classroom behaviour by a psychologist, Wait until puberty before considering any treatment at all, Wait until she is 16 years old, to maximise height, Add a progestogen to protect the lining of the womb, Her fertility will be the same as her friends’, Nothing, as egg donation removes all of her extra risk, Stop her oestrogen treatment at once, A specific difficulty with spatial and number skills, A fasting lipid profile done every month.

Clinical pearls from this deck

• Puffy hands and feet in a newborn girl: send a karyotype.
• Normal karyotype but Turner features: look harder for mosaicism.
• A 45,X screening result is a question, not a diagnosis: confirm it.
• Turner syndrome: measure the aorta against her size.
• New Turner syndrome: scan the kidneys, even without symptoms.
• Turner syndrome and missed instructions: check her hearing.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all Endocrinology Board Questions case decks · pediatric reference values.