Genetics: Turner syndrome: practice question

A Anatomy 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.

Try it

Anatomy · Genetics: Turner syndrome

Sample item

A 14-year-old girl is 138 cm tall and has a webbed neck, widely spaced nipples, absent breast development and raised FSH. Which karyotype and gonadal finding are expected?

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

The answer and the reasoning

A. 45,X with streak ovaries

Turner syndrome is most often 45,X. Gonadal dysgenesis produces streak ovaries, so oestrogen is low and FSH and LH are raised (hypergonadotropic hypogonadism), with short stature and a webbed neck. Karyotype confirms the diagnosis, and echocardiography and renal ultrasound are done to look for associated anomalies.

Option by option

  • A. 45,X with streak ovaries (correct)

    Correct. A 45,X karyotype with streak ovaries explains short stature, webbing and hypergonadotropic hypogonadism.

  • B. 46,XX with normal ovaries and absent uterus

    Mullerian agenesis gives normal breast development and normal gonadotrophins.

  • C. 47,XXX with normal ovaries

    47,XXX women are usually tall with normal puberty and fertility.

  • D. 46,XY with undescended testes

    A 46,XY girl with androgen insensitivity is tall, with breast development and no uterus; webbing is not part of that picture.

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.

More Anatomy questions

Questions about this Anatomy question

What is the answer to this Anatomy question?

The best answer is A, 45,X with streak ovaries. Turner syndrome is most often 45,X.

Why is "46,XX with normal ovaries and absent uterus" not the answer?

Mullerian agenesis gives normal breast development and normal gonadotrophins.

Why is "47,XXX with normal ovaries" not the answer?

47,XXX women are usually tall with normal puberty and fertility.

Why is "46,XY with undescended testes" not the answer?

A 46,XY girl with androgen insensitivity is tall, with breast development and no uterus; webbing is not part of that picture.

What concept does this question test?

It tests Genetics: Turner syndrome in Anatomy. Gonadal dysgenesis produces streak ovaries, so oestrogen is low and FSH and LH are raised (hypergonadotropic hypogonadism), with short stature and a webbed neck. Karyotype confirms the diagnosis, and echocardiography and renal ultrasound are done to look for associated anomalies.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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 Genetics: Turner syndrome?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.