Monogenic Diabetes – Board-Style Questions

What this deck covers

monogenic diabetes 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. Still making insulin
2. A number that never moves
3. Leave it alone
4. The baby decides
5. Tablets, not injections
6. Sugar in the urine
7. Big at birth, diabetic later
8. Cysts and diabetes
9. Too young for type 1
10. The channel and the tablet
11. More than diabetes
12. Gone, but not for good
13. Two jobs of the pancreas
14. The next generation
15. Choosing who to test
16. Hearing aids in the family
17. Planning a baby
18. Not the harmless kind

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A high HbA1c despite her regular insulin doses, Early type 1 diabetes before the honeymoon phase ends, No treatment, and no routine glucose monitoring, The baby has the variant, so nothing changes, Metformin, stopping the insulin at once, A low kidney threshold for glucose in HNF1A carriers, A glucokinase variant from his mother, A low-dose sulphonylurea, as in HNF1A, Diabetes this early is rarely autoimmune, Stopping all treatment, as it will remit, Brain injury from repeated severe hypoglycaemia, Yes, it has gone and needs no further follow-up at all, Pancreatic enzyme replacement with his feeds, One in four, as for recessive conditions.

Clinical pearls from this deck

• C-peptide still there years later, antibodies negative: think single gene.
• Mild, stable, lifelong, and the parent is ‘borderline’: glucokinase.
• Glucokinase diabetes: no treatment, no testing, no worry.
• Glucokinase pregnancy: a big baby means the baby escaped the gene.
• HNF1A: a small dose of gliclazide beats the insulin.
• Glycosuria with a normal blood glucose in an HNF1A family: the kidney leaks.

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.