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Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain

Gurpreet Singh1, Jack Petroski2, Drake Marden1

  • 1Department of General Surgery, Garnet Health Medical Center, Middletown, NY, USA.

The American Journal of Case Reports
|January 13, 2026
PubMed

Insights

Gallbladder agenesis (GA) is rare, but can cause pain. This case details a patient with Klinefelter syndrome presenting with atypical hematemesis and GA, highlighting diagnostic imaging and potential developmental links.

Area of Science:

  • Gastroenterology
  • Medical Genetics
  • Congenital Anomalies

Background:

  • Gallbladder agenesis (GA) is a rare congenital anomaly.
  • While often asymptomatic, GA can manifest as biliary colic-like pain.
  • This case report details an unusual presentation of GA.

Purpose of the Study:

  • To report a rare case of gallbladder agenesis in a patient with Klinefelter syndrome.
  • To highlight the diagnostic utility of MRCP in confirming GA.
  • To discuss the atypical presentation of hematemesis in GA and potential developmental correlations.

Main Methods:

  • Case report of a 38-year-old male with Klinefelter syndrome.
  • Diagnostic imaging including CT angiography, HIDA scan, ultrasound, EGD, and MRCP.
  • Laboratory testing for liver function and ferritin levels.

Main Results:

  • Gallbladder agenesis was confirmed by MRCP.
  • The patient presented with hematemesis, right upper quadrant pain, hepatic steatosis, and splenomegaly.
  • Hematemesis resolved spontaneously; no active bleeding was found on EGD.

Conclusions:

  • MRCP is valuable for diagnosing GA and preventing unnecessary surgery.
  • Hematemesis is an atypical presentation for GA, suggesting a possible link to upper GI bleeding.
  • This is the first reported case of coexisting GA and Klinefelter syndrome, suggesting potential developmental correlations.

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