Identification: disorders of sex development: practice question

A Forensic 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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Forensic Medicine · Identification: disorders of sex development

Sample item

A 17-year-old raised as a girl has primary amenorrhoea, well-developed breasts, scanty pubic hair and a blind-ending vagina. Imaging shows no uterus, testes are found in the inguinal canals, and the karyotype is 46,XY. How is this condition classified?

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

The answer and the reasoning

D. 46,XY disorder of sex development (male pseudohermaphroditism) due to androgen insensitivity

Male pseudohermaphroditism means the gonads are testes while the external genitalia are female or ambiguous. In complete androgen insensitivity the 46,XY person has testes, a blind vagina and no uterus because Mullerian-inhibiting factor is still produced, and breasts develop from aromatisation. Legal sex is usually that of rearing.

Option by option

  • A. Turner syndrome

    Turner syndrome is 45,X with streak gonads and a uterus is usually present.

  • B. 46,XX disorder of sex development (female pseudohermaphroditism)

    Female pseudohermaphroditism has ovaries and a 46,XX karyotype with virilised genitalia.

  • C. Ovotesticular disorder of sex development (true hermaphroditism)

    True hermaphroditism requires both ovarian and testicular tissue, which is not present here.

  • D. 46,XY disorder of sex development (male pseudohermaphroditism) due to androgen insensitivity (correct)

    Testes with a 46,XY karyotype and female external genitalia indicate male pseudohermaphroditism.

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 Forensic Medicine question

What is the answer to this Forensic Medicine question?

The best answer is D, 46,XY disorder of sex development (male pseudohermaphroditism) due to androgen insensitivity. Male pseudohermaphroditism means the gonads are testes while the external genitalia are female or ambiguous.

Why is "Turner syndrome" not the answer?

Turner syndrome is 45,X with streak gonads and a uterus is usually present.

Why is "46,XX disorder of sex development (female pseudohermaphroditism)" not the answer?

Female pseudohermaphroditism has ovaries and a 46,XX karyotype with virilised genitalia.

Why is "Ovotesticular disorder of sex development (true hermaphroditism)" not the answer?

True hermaphroditism requires both ovarian and testicular tissue, which is not present here.

What concept does this question test?

It tests Identification: disorders of sex development in Forensic Medicine. In complete androgen insensitivity the 46,XY person has testes, a blind vagina and no uterus because Mullerian-inhibiting factor is still produced, and breasts develop from aromatisation. Legal sex is usually that of rearing.

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 Identification: disorders of sex development?

Learn postmortem changes with their timelines, and toxicology as poison, sign, test and antidote. Then use the flashcards and the other Forensic 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.