A 25-year-old woman presented with primary amenorrhea, short stature, webbed neck, broad chest and widely spaced pages. Examination showed weak pulses in lower extremity and streak ovaries. Which of the following karyotype is most likely to be present?
## **Core Concept**
The patient's presentation suggests Turner syndrome, a genetic disorder characterized by short stature, gonadal dysgenesis (streak ovaries), and various physical anomalies. Turner syndrome is associated with a specific chromosomal abnormality.
## **Why the Correct Answer is Right**
The clinical features presented—primary amenorrhea, short stature, webbed neck, broad chest with widely spaced nipples, weak pulses in the lower extremities (suggestive of coarctation of the aorta), and streak ovaries—are classic for Turner syndrome. Turner syndrome is most commonly caused by a complete or partial monosomy of the X chromosome, typically **45,X**. This karyotype results in the absence of one X chromosome, leading to the characteristic physical and reproductive features.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option suggests Klinefelter syndrome (47,XXY), which presents in males with features like gynecomastia, infertility, and sparse body hair, not matching the female presentation here.
- **Option B:** This could represent a variety of sex chromosome aneuploidies but does not specify a common or classic karyotype associated with Turner syndrome.
- **Option D:** This option might suggest a different form of sex chromosome aneuploidy or a normal female karyotype, neither of which aligns with the clinical presentation of Turner syndrome.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that Turner syndrome (45,X) often presents with cardiovascular anomalies, such as bicuspid aortic valve and coarctation of the aorta, which can explain the weak pulses in the lower extremities. Early diagnosis and management of these cardiovascular issues are crucial.
## **Correct Answer:** . 45,X.