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 question indicates that a 23-year-old female has a specific karyotype and is only 4 feet tall. Given the options provided, we need to identify the most likely etiology for her condition. Let's analyze the possibilities:

• Turner syndrome: Characterized by a chromosomal anomaly where there is a complete or partial absence of one of the sex chromosomes, typically present as 45,X. Common features include short stature, usually around 4 feet 8 inches, and other distinct phenotypic characteristics.
• Klinefelter syndrome: Occurs in males and results from the presence of an extra X chromosome (47,XXY), leading to symptoms like tall stature and gynecomastia, contrary to this case.
• Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS): Affects females and involves congenital absence of the uterus and vagina, typically without notable height differences.
• Edwards syndrome: Also known as Trisomy 18, characterized by severe developmental delays and growth deficiencies.

Given the height of 4 feet and the need to consider a chromosomal abnormality, Turner syndrome fits best as it explains the significant short stature and the likelihood of a specific karyotype anomaly. Thus, Turner syndrome is the most probable etiology for her condition.