What congenital condition is indicated by streak ovaries, congenital heart disease, and a horseshoe kidney?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The presence of streak ovaries, congenital heart disease, and a horseshoe kidney strongly suggests Turner syndrome, which is a chromosomal condition caused by the complete or partial loss of one X chromosome in females. Women with Turner syndrome commonly exhibit streak ovaries, which are non-functional and lead to primary amenorrhea and infertility. The association with congenital heart disease, particularly coarctation of the aorta or bicuspid aortic valve, is also well-documented in this condition.

Furthermore, the horseshoe kidney, where the kidneys fuse at their lower poles, is another trait that can be seen in individuals with Turner syndrome, further reinforcing the diagnosis. Turner syndrome is characterized by a variety of phenotypic abnormalities due to the lack of normal ovarian development, which predisposes these patients to various coexisting conditions, including cardiovascular defects and renal malformations.

In contrast, the other syndromes listed—Down syndrome, Edwards syndrome, and Klinefelter syndrome—are characterized by different sets of features and do not typically present with the combination of findings observed in this case. For example, Down syndrome is commonly associated with trisomy 21 and may include features such as hypotonia and characteristic facial features, but not streak ovaries or a

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