Endocrinology: pseudohypoparathyroidism: practice question

A General Medicine 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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General Medicine · Endocrinology: pseudohypoparathyroidism

Sample item

A short child with round face and short fourth metacarpals has low calcium, high phosphate and high PTH. What is the diagnosis?

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

The answer and the reasoning

D. Pseudohypoparathyroidism type 1a

Pseudohypoparathyroidism is end-organ resistance to PTH due to a GNAS defect, and Albright hereditary osteodystrophy shows short stature, round face and short metacarpals. Calcium is low and phosphate high, but PTH is raised, unlike true hypoparathyroidism where PTH is low.

Option by option

  • A. Primary hyperparathyroidism

    Primary hyperparathyroidism has high calcium.

  • B. Vitamin D deficiency rickets

    Rickets has low phosphate.

  • C. Hypoparathyroidism after surgery

    Hypoparathyroidism has low PTH.

  • D. Pseudohypoparathyroidism type 1a (correct)

    Correct. Raised PTH with Albright features is pseudohypoparathyroidism.

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 General Medicine question

What is the answer to this General Medicine question?

The best answer is D, Pseudohypoparathyroidism type 1a. Pseudohypoparathyroidism is end-organ resistance to PTH due to a GNAS defect, and Albright hereditary osteodystrophy shows short stature, round face and short metacarpals.

Why is "Primary hyperparathyroidism" not the answer?

Primary hyperparathyroidism has high calcium.

Why is "Vitamin D deficiency rickets" not the answer?

Rickets has low phosphate.

Why is "Hypoparathyroidism after surgery" not the answer?

Hypoparathyroidism has low PTH.

What concept does this question test?

It tests Endocrinology: pseudohypoparathyroidism in General Medicine. Calcium is low and phosphate high, but PTH is raised, unlike true hypoparathyroidism where PTH is low.

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?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine 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.