## **Core Concept**
The patient's presentation suggests Turner syndrome, a genetic disorder characterized by short stature, broad chest (shield chest), webbed neck, low-set ears, and primary amenorrhea (never having a menstrual period). This condition is associated with an abnormal karyotype.
## **Why the Correct Answer is Right**
Turner syndrome is caused by a complete or partial absence of one X chromosome, leading to a karyotype of 45,X instead of the typical 46,XX or 46,XY. This results from a nondisjunction event during meiosis. The condition leads to ovarian dysgenesis, which explains the patient's primary amenorrhea and infertility. The physical characteristics, such as short stature and specific dysmorphic features, are also typical of Turner syndrome.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option does not specify a known karyotypic abnormality associated with Turner syndrome.
- **Option B:** While this option suggests an abnormality involving sex chromosomes, it does not accurately represent the typical karyotype seen in Turner syndrome.
- **Option C:** This option implies a different type of genetic abnormality not associated with Turner syndrome.
- **Option D:** This option is not provided, but based on the context, we can infer that the correct answer must relate to a 45,X karyotype.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for Turner syndrome is that patients often present with short stature and gonadal dysgenesis, leading to infertility. A classic feature is a webbed neck, and they are also at risk for cardiovascular anomalies, particularly bicuspid aortic valve and coarctation of the aorta. Early diagnosis and treatment, including growth hormone therapy and estrogen replacement, can significantly improve quality of life.
## **Correct Answer:** . 45,X.
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