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16-year-old female; 167 cm; 49 kg.

Photo posed by model/courtesy of stock.adobe.com

No past medical history; family history positive for diabetes mellitus (father and father’s brother and paternal grandmother).

Photo posed by model/courtesy of stock.adobe.com
  • Patient consulted her primary healthcare provider due to generalised weakness, polydipsia and polyuria over the past three weeks
  • Physical examination is normal; her blood pressure is not elevated
  • The laboratory workout is normal (lipid panel: cholesterol 125 mg/dl, triglycerides: 70 mg/dl, low density lipoprotein: 71 mg/dl) EXCEPT:
    • Fasting plasma glucose: 290 mg/dl
    • HbA1c: 8.8% (73mmol/mol)
    • 2-hour plasma glucose (2h PG) after 75 g oral glucose tolerance test (OGTT): 340 mg/dl
    • Elevated urine glucose levels (no evidence of acidosis or urine ketones), islet cell autoantibody screen is negative
  • Ophthalmic examination and renal function laboratory tests were both within normal limits
  • The patient is initiated on a basal bolus insulin regimen with continuous titration to achieve an HbA1c < 7% (53 mmol/mol), fasting plasma glucose 80–130 mg/dl and peak postprandial plasma glucose 180 mg/dl
  • 8 years later, the patient is admitted to the hospital due to urinary tract infection with fever and chills.
  • She admits to recurrent urinary tract infections, weight gain of 10 kg during the past 8 years and high blood glucose levels, despite elevated insulin doses.
  • Her random blood glucose is 300 mg/dl; HbA1c is 10% (86mmol/mol)
  • Her urine analysis is suggestive of albuminuria, glycosuria and urinary tract infection; all other lab parameters are within normal limits
  • At this time point and following treatment for her infection, the patient is re-evaluated for her diabetes
  • C-peptide is normal (250 pmol/l), and gene sequencing is performed, which reveals a heterozygous mutation in HNF4A gene designated c.200G>A (p.Arg67Gln)

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Please note:
This case study is a fictitious teaching example. Any resemblance to the case history of a real person with diabetes is purely coincidental.