Paediatric endocrinology: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Paediatric endocrinology

Sample item

A 10-day-old male infant presents with poor feeding, vomiting and shock. Serum sodium is 124 mEq/L, potassium 7.2 mEq/L and glucose is low. A sibling died in infancy. Which enzyme deficiency is most likely, and which is the correct treatment?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

C. 21-hydroxylase deficiency; hydrocortisone and fludrocortisone with saline and dextrose

Salt-wasting classic congenital adrenal hyperplasia, most often 21-hydroxylase deficiency, causes cortisol and aldosterone deficiency with hyponatraemia, hyperkalaemia and hypoglycaemia. 17-hydroxyprogesterone is raised. Treatment is saline and dextrose resuscitation with glucocorticoid and mineralocorticoid replacement.

Option by option

  • A. 11-beta-hydroxylase deficiency; spironolactone and low-salt diet

    11-beta-hydroxylase deficiency causes hypertension from deoxycorticosterone excess, so salt restriction would be wrong.

  • B. Aromatase deficiency; testosterone

    Aromatase deficiency affects oestrogen synthesis and does not cause adrenal crisis.

  • C. 21-hydroxylase deficiency; hydrocortisone and fludrocortisone with saline and dextrose (correct)

    Correct. Replacing both missing hormones corrects shock, electrolytes and glucose.

  • D. 17-alpha-hydroxylase deficiency; thyroxine

    17-alpha-hydroxylase deficiency causes hypertension and hypokalaemia.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is C, 21-hydroxylase deficiency; hydrocortisone and fludrocortisone with saline and dextrose. Salt-wasting classic congenital adrenal hyperplasia, most often 21-hydroxylase deficiency, causes cortisol and aldosterone deficiency with hyponatraemia, hyperkalaemia and hypoglycaemia.

Why is "11-beta-hydroxylase deficiency; spironolactone and low-salt diet" not the answer?

11-beta-hydroxylase deficiency causes hypertension from deoxycorticosterone excess, so salt restriction would be wrong.

Why is "Aromatase deficiency; testosterone" not the answer?

Aromatase deficiency affects oestrogen synthesis and does not cause adrenal crisis.

Why is "17-alpha-hydroxylase deficiency; thyroxine" not the answer?

17-alpha-hydroxylase deficiency causes hypertension and hypokalaemia.

What concept does this question test?

It tests Paediatric endocrinology in Pediatrics. 17-hydroxyprogesterone is raised. Treatment is saline and dextrose resuscitation with glucocorticoid and mineralocorticoid replacement.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Paediatric endocrinology?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.