17q12 deletion syndrome presenting with chronic pancreatitis: a case report.

INTRODUCTION

17q12 deletion syndrome is a rare autosomal dominant disorder classically characterized by renal cystic disease, maturity-onset diabetes of the young type 5 (MODY5), and Müllerian duct anomalies (e. g., MRKH syndrome).

CASE PRESENTATION: Pancreatic manifestations in this syndrome commonly include congenital structural abnormalities (e.g., dorsal agenesis) or atrophy, whereas classic chronic pancreatitis is rarely documented. We report an 18-year-old female with recurrent upper abdominal pain, steatorrhea, and dyspepsia. Imaging revealed pancreatic atrophy with calcifications. Whole-exome sequencing confirmed a diagnosis of 17q12 deletion syndrome.

CONCLUSION

This case is the first to identify chronic pancreatitis as a significant clinical phenotype of 17q12 deletion syndrome. By integrating a literature review, we discuss the pathophysiology related to hepatocyte nuclear factor 1β (HNF1B) haploinsufficiency, suggesting that chronic pancreatitis may constitute part of the syndrome's clinical spectrum.