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Failure to Thrive in a Middle-Aged Female: A Case of Congenital Incomplete Pancreas From a Rare Genetic Defect

Onyinye Ugonabo1, Turki Mohamed1, Murad Kheetan1

  • 1Marshall University, Huntington, WV, USA.

Journal of Investigative Medicine High Impact Case Reports
|April 13, 2023
PubMed

Insights

Hepatocyte nuclear factor-1 beta (HNF1B) gene mutations are rare and can cause incomplete pancreas development. This case highlights HNF1B mutations in a patient with diabetes and Mullerian duct anomalies.

Area of Science:

  • Genetics
  • Developmental Biology
  • Endocrinology

Background:

  • Hepatocyte nuclear factor-1 beta (HNF1B) is a crucial transcription factor for pancreas development.
  • Mutations in HNF1B are rare and linked to pancreatic agenesis and other congenital anomalies.
  • HNF1B is expressed in multiple organs including the liver, kidney, lung, genitourinary tract, and pancreas.

Observation:

  • A 51-year-old female presented with poorly controlled diabetes, Mullerian duct anomalies, abdominal pain, fatigue, dizziness, and electrolyte imbalance.
  • Abdominal CECT revealed a multicystic kidney and partial pancreatic agenesis (missing body and tail).

Findings:

  • The patient was diagnosed with an HNF1B gene mutation.
  • This mutation explains the observed pancreatic agenesis and associated conditions.

Implications:

  • Diagnosing HNF1B mutations can be challenging, especially with isolated symptoms.
  • Management requires a multidisciplinary approach tailored to individual disease manifestations.
  • Recognizing HNF1B mutations is vital for understanding and managing complex congenital disorders.

Keywords:
Gitelman patternHNF1BHNF1B mutationagenesis of the dorsal pancreasincomplete pancreas

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