Gynaecological pathology: gonadal dysgenesis and tumour risk: practice question

A Pathology 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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Pathology · Gynaecological pathology: gonadal dysgenesis and tumour risk

Sample item

A 16-year-old girl has primary amenorrhoea, absent breast development and streak gonads, and her karyotype is 46,XY. What is the major risk, and what is the recommended management?

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

The answer and the reasoning

D. Gonadoblastoma and dysgerminoma, so prophylactic gonadectomy is advised

In 46,XY gonadal dysgenesis (Swyer syndrome) the dysgenetic gonads contain Y-chromosome material and have a high risk of gonadoblastoma, which can progress to dysgerminoma and other germ cell tumours. Streak gonads are removed after diagnosis. Oestrogen is then given to induce puberty and the uterus allows pregnancy with donor oocytes.

Option by option

  • A. Choriocarcinoma, so chemotherapy is advised

    Choriocarcinoma follows a gestational event and does not arise from a streak gonad.

  • B. Endometrial carcinoma, so a hysterectomy is advised

    Endometrial carcinoma is not the main risk and treatment does not involve hysterectomy.

  • C. Wilms tumour, so a nephrectomy is advised

    Wilms tumour is a paediatric renal tumour related to WT1 and is not the major risk here.

  • D. Gonadoblastoma and dysgerminoma, so prophylactic gonadectomy is advised (correct)

    Correct. Y-bearing dysgenetic gonads carry a high risk of germ cell tumours.

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 Pathology question

What is the answer to this Pathology question?

The best answer is D, Gonadoblastoma and dysgerminoma, so prophylactic gonadectomy is advised. In 46,XY gonadal dysgenesis (Swyer syndrome) the dysgenetic gonads contain Y-chromosome material and have a high risk of gonadoblastoma, which can progress to dysgerminoma and other germ cell tumours.

Why is "Choriocarcinoma, so chemotherapy is advised" not the answer?

Choriocarcinoma follows a gestational event and does not arise from a streak gonad.

Why is "Endometrial carcinoma, so a hysterectomy is advised" not the answer?

Endometrial carcinoma is not the main risk and treatment does not involve hysterectomy.

Why is "Wilms tumour, so a nephrectomy is advised" not the answer?

Wilms tumour is a paediatric renal tumour related to WT1 and is not the major risk here.

What concept does this question test?

It tests Gynaecological pathology: gonadal dysgenesis and tumour risk in Pathology. Streak gonads are removed after diagnosis. Oestrogen is then given to induce puberty and the uterus allows pregnancy with donor oocytes.

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 Gynaecological pathology: gonadal dysgenesis and tumour risk?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.