Disorders of Sex Development in Children – 18 Board-Style Questions

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What this deck covers

Disorders of Sex Development 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 board, MRCPCH and Prometric examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

  1. Nobody can answer yet
  2. Two hours of not knowing
  3. The first day of tests
  4. Why keep taking blood
  5. One thing you can feel
  6. A uterus and two ovaries
  7. Something changed in her too
  8. No periods, no body hair
  9. Found at a hernia repair
  10. Made normally, acting weakly
  11. Virilising at puberty
  12. Why remove them at all
  13. Two kinds in one child
  14. Two findings, not one
  15. The right moment to operate
  16. Waiting rather than cutting
  17. What she should be told
  18. Day eight, and unwell

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: Ask the parents, By reassuring them it is almost certainly a girl, Magnetic resonance imaging of the pelvis alone, A salt-losing crisis can develop in the second week, Impalpable gonads mean the karyotype must be 46,XY, Congenital adrenal hyperplasia, The baby’s own adrenal glands, Gonadal dysgenesis with streak gonads, A repeat ultrasound scan in twelve months’ time, The testes have failed to produce any hormone, 5-alpha reductase deficiency, The gonads will become painful as she grows, A normal finding in the first weeks of life, As a urological problem with no endocrine relevance.

Clinical pearls from this deck

  • An announcement that has to be taken back does more damage than an honest wait.
  • Families remember how this hour was handled for the rest of their lives. Say what you know, and when you will know more.
  • Four tests, four questions: which chromosomes, which cause, is the salt safe, and what anatomy is there.
  • The parents are watching the appearance. You should be watching the sodium.
  • Feel for the gonads before you order anything. It is free and it halves the differential.
  • The inside is entirely female. Only the outside was exposed to androgen, and that is reversible ground.

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.

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