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

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).

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.

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.