What syndrome should be assessed in a 16-year-old female with primary amenorrhea?

Primary amenorrhea in a 16-year-old female can be a significant concern and often warrants the assessment of specific syndromes that may be associated with it. Turner syndrome is one of the most common chromosomal abnormalities associated with primary amenorrhea. It results from the complete or partial absence of one X chromosome, leading to a variety of clinical features, including short stature, ovarian insufficiency, and a lack of secondary sexual characteristics, which can contribute to the absence of menstruation.

The association of Turner syndrome with primary amenorrhea is due to the underdeveloped ovaries (streak ovaries), which do not produce sufficient estrogen to trigger the onset of menstruation. Other symptoms can include physical features such as webbed neck, low set ears, and broad chest, which can be clues in the clinical presentation.

Other conditions listed, such as polycystic ovary syndrome, typically do not present as primary amenorrhea at this age; rather, they are more often characterized by irregular or absent menstrual cycles after menarche. Kawasaki disease and multiple sclerosis are not primarily related to reproductive health or amenorrhea and would not be the focus in the assessment of a young female presenting with this issue. Therefore, Turner syndrome is the