Urinary tract endometriosis masquerading as a renal mass in hepatocyte nuclear factor-1 beta gene mutation
This case report describes a patient whose urinary tract endometriosis presented as a renal mass, highlighting a potential diagnostic challenge in the context of hepatocyte nuclear factor-1 beta gene mutations.
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This case report describes urinary tract endometriosis that presented as a renal mass in a patient with a hepatocyte nuclear factor-1 beta (HNF-1β) gene mutation, using clinical evaluation to frame the diagnostic dilemma. The authors report that the presumed renal mass was ultimately attributed to endometriosis in the urinary tract, despite the patient’s genetic background that is associated with renal disease. A key caveat is that, as a single-case report, the findings cannot establish frequency or causal inference beyond this individual presentation. Relevance to endometriosis: the paper is centrally about endometriosis — it focuses on urinary tract endometriosis masquerading as a renal mass, with the context of an HNF-1β gene mutation.
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