A man with Klinefelter's syndrome and new abdominal distension: A discussion of evaluation and management

摘要

A 50-year-old gentleman with Klinefelter's syndrome (XXY karyotype) presented to his primary care physician with generalized abdominal discomfort. His pain was described as diffuse, constant, and associated with progressive abdominal distension. There was no clear exacerbation after eating, and he had no nausea, vomiting, constipation, diarrhea, or weight loss. Laboratory evaluation was remarkable for an elevated creatinine of 2.1 mg/dL. Liver function testing was notable for a mild transaminitis with AST 39 Units/L and ALT 73 Units/L (normal range, AST 10-37 Units/L and ALT 5-37 Units/ L), but total bilirubin and alkaline phosphatase were within normal limits. The coagulation profile was also within normal limits. The patient underwent an esoph-agogastroduodenoscopy which demonstrated chronic gastritis and a colonoscopy was performed and revealed a single tubulovillous adenoma 20 cm from the anal verge.