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

The karyotype shown in the image reveals a 45,X karyotype, which is characteristic of Turner syndrome. This syndrome occurs in females who have only one X chromosome instead of two, leading to a variety of symptoms including short stature, ovarian insufficiency, and a webbed neck. The patient’s height of 4 feet is consistent with the growth failure often seen in Turner syndrome.
- Klinefelter syndrome involves the presence of an extra X chromosome in males (typically 47,XXY), leading to tall stature and infertility.
- Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a condition where females are born with an underdeveloped or absent uterus and vagina, but their karyotype is typically 46,XX, and they do not have the chromosome abnormalities seen in Turner syndrome. - Edwards syndrome (Trisomy 18) is characterized by severe developmental delays and other congenital anomalies, but it typically presents with an extra chromosome 18 and not the 45,X karyotype seen in Turner syndrome.
The 45,X karyotype confirms the diagnosis of Turner syndrome.