Klinefelter Syndrome – Board-Style Questions

What this deck covers

Klinefelter 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. Out of step
2. Found before birth
3. Reading the bloods
4. Why so tall
5. Supporting puberty
6. Breast tissue that stays
7. A chance of a family
8. Before the first dose
9. Monitoring treatment
10. A long-term risk
11. Finding the words
12. Can’t sit still
13. Fragile bones
14. Checking the metabolism
15. A swollen leg
16. A mixture of cells
17. More than one extra
18. Telling him

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: His height compared with his classmates, Most have normal intelligence, and many are never diagnosed, A problem with the pituitary gland, An excess of growth hormone from a pituitary tumour, Testosterone, started low and increased gradually, Wait another year for it to settle, Nothing, as fatherhood is impossible for him, Testosterone will improve his sperm count, His haematocrit, which testosterone can raise, There is no risk at all, Moving him into a special school, Stricter discipline at home and school, Testosterone deficiency lowering bone density, No checks until he is 40.

Clinical pearls from this deck

• Pubertal hair with tiny firm testes: think of an extra X.
• An antenatal 47,XXY result: most boys do well, and many never know.
• High LH and FSH, low testosterone: the testes are failing.
• An extra X means an extra SHOX: long legs.
• Stalled puberty in Klinefelter syndrome: low-dose testosterone, increased slowly.
• Long-standing gynaecomastia with an extra X: surgery helps.

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.