Which of the following is the most consistent clinical feature of Turner syndrome?

Prepare for the PANCE Board Exam with our comprehensive quiz. Study with detailed questions and explanations. Sharpen your skills and boost your confidence for exam day!

Multiple Choice

Which of the following is the most consistent clinical feature of Turner syndrome?

Turner syndrome results from loss of one X chromosome, which leads to a pattern of features from widespread developmental impacts. The height deficit is the most consistent finding because haploinsufficiency of the SHOX gene on the X chromosome severely affects linear growth in virtually all affected individuals. Growth hormone therapy can help improve final height, but the short stature itself is the hallmark that appears in essentially all patients. Intellectual ability is typically normal, though some learning difficulties can occur; gonadal failure is common and leads to amenorrhea, but pubertal development varies and is not universal without hormone support. Heart defects, such as coarctation of the aorta or bicuspid aortic valve, are important and frequent but not present in every patient. So the most consistently observed feature remains short stature.

Turner syndrome results from loss of one X chromosome, which leads to a pattern of features from widespread developmental impacts. The height deficit is the most consistent finding because haploinsufficiency of the SHOX gene on the X chromosome severely affects linear growth in virtually all affected individuals. Growth hormone therapy can help improve final height, but the short stature itself is the hallmark that appears in essentially all patients.

Intellectual ability is typically normal, though some learning difficulties can occur; gonadal failure is common and leads to amenorrhea, but pubertal development varies and is not universal without hormone support. Heart defects, such as coarctation of the aorta or bicuspid aortic valve, are important and frequent but not present in every patient. So the most consistently observed feature remains short stature.

More practice questions