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Lymphedema
58%
137/235
Severe acne
6%
15/235
Increased serum estrogen levels
5%
12/235
Anatomical abnormality of the vaginal canal
14%
34/235
Subnormal intelligence
13%
31/235
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This patient presents with findings suspicious for Turner syndrome, which is frequently associated with lymphedema. Turner syndrome (TS) is a congenital disorder marked by the absence of one sex X chromosome. Affected females are genotypically XO. Affected females frequently have short stature (often less than 5 feet if untreated). Several congenital anomalies are also associated with the disorder, including bicuspid aortic valves, aortic coarctation (figure A), and lymphedema of the hands and feet. Morgan discusses the cardiac abnormalities associated with TS in greater detail. Overall, approximately one-in-three patients affected with TS will have a cardiac malformation. Of these malformations, three-in-four will be either a coarctation of aorta or a bicuspid aortic valve. Occasionally, progressive dilation of the aortic root may occur, as can aortic dissection. Ho et al. conducted a prospective study in which they used gadolinium-enhanced MRI to exam the aorta of patients with TS and without TS. The authors found a high rate of anomalies of the aortic in TS patients. They also found a relatively high rate of venous abnormalities as well. In particular, the constellation of elongation of the transverse aortic arch, aortic coarctation, and persistent left SVC was significantly associated with TS in their study. Figure A depicts a coarctation of the aorta in a TS patient. Illustration A depicts lymphedema of the feet of an infant with TS. Incorrect answers: Answer 2: Severe acne is observed in XYY males. Answer 3: TS patients have reduced, not increased estrogen levels. Answer 4: TS patients have amenorrhea due to ovarian dysgenesis and failure, not anatomical abnormalities. Answer 5: TS patients typically have normal intelligence.
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