Endocrinology: pseudohypoparathyroidism: 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 · Endocrinology: pseudohypoparathyroidism

Sample item

A child with short stature, round face, short fourth metacarpals, hypocalcaemia and raised PTH has end-organ resistance. What is the diagnosis?

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

The answer and the reasoning

C. Pseudohypoparathyroidism type 1a (Albright hereditary osteodystrophy)

In pseudohypoparathyroidism the PTH level is high because the target tissues do not respond, from a GNAS mutation. Hypocalcaemia with hyperphosphataemia and high PTH differentiates it from hypoparathyroidism, which has low PTH. Skeletal features include brachydactyly.

Option by option

  • A. Hyperparathyroidism

    Hyperparathyroidism has high calcium.

  • B. Nutritional rickets

    Nutritional rickets has low phosphate.

  • C. Pseudohypoparathyroidism type 1a (Albright hereditary osteodystrophy) (correct)

    Correct. High PTH with resistance fits PHP 1a.

  • D. Hypoparathyroidism

    Hypoparathyroidism has low PTH.

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, Pseudohypoparathyroidism type 1a (Albright hereditary osteodystrophy). In pseudohypoparathyroidism the PTH level is high because the target tissues do not respond, from a GNAS mutation.

Why is "Hyperparathyroidism" not the answer?

Hyperparathyroidism has high calcium.

Why is "Nutritional rickets" not the answer?

Nutritional rickets has low phosphate.

Why is "Hypoparathyroidism" not the answer?

Hypoparathyroidism has low PTH.

What concept does this question test?

It tests Endocrinology: pseudohypoparathyroidism in Pediatrics. Hypocalcaemia with hyperphosphataemia and high PTH differentiates it from hypoparathyroidism, which has low PTH. Skeletal features include brachydactyly.

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 Endocrinology: pseudohypoparathyroidism?

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.