Question

A 23-year-old female with a height of 4 feet has a karyotype, as shown in the image below. Which of the following conditions is the most likely etiology? 

• A. Turner syndrome
• B. Klinefelter syndrome
• C. Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
• D. Edwards syndrome

Hint:

In a female with short stature and a 45,X karyotype, consider Turner syndrome. Additional features include a webbed neck and absent or underdeveloped ovaries.

Answer 1

The Correct Option is A

Step 1: Pull out the two anchor findings.
We have a phenotypic female (raised and presenting as a 23-year-old woman) with marked short stature - only about 4 feet tall - whose diagnosis is being read off a karyotype. So we need a condition where (a) the patient is female, (b) short stature is a defining feature, and (c) a chromosomal abnormality is visible on the karyotype.

Step 2: Test each option against those anchors.
• Klinefelter syndrome is a 47,XXY disorder of MALES, typically with TALL stature - it fails both the sex and the height anchors.
• Mayer-Rokitansky-Küster-Hauser syndrome affects females, but it is Müllerian agenesis (absent uterus/upper vagina) with a NORMAL 46,XX karyotype and normal height - it cannot be diagnosed from a karyotype and does not cause short stature.
• Edwards syndrome (trisomy 18) causes severe malformations and very poor survival; reaching age 23 with isolated short stature does not fit.

Step 3: Confirm the remaining diagnosis.
That leaves a 45,X karyotype - loss of one sex chromosome. This produces a short, phenotypically female patient, with short stature being one of the most consistent features, alongside gonadal dysgenesis and other stigmata. The karyotype-based, female, short-stature combination is exactly Turner syndrome.

Final answer: The most likely etiology is Turner syndrome (Option 1).