Case Studies

Graduate Student with Atypical Symptoms


Case vignette
A 25-year-old graduate student originally presented to you with symptoms of a UTI. An urinanalysis showed signs of infection, as well as glycosuria. You prescribed a 3-day course of trimethoprim-sulfamethoxazole and ordered a comprehensive metabolic panel, which came back normal for lipid levels and renal and liver function but showed an A1C of 7.1.
You examine the patient again and note that she is of normal weight (BMI=23), has never smoked, and is currently using no prescription medications other than a daily combination oral contraceptive (3 mg drospirenone/0.02 mg estradiol). She reports having an occasional glass of wine at dinner and sometimes several beers or mixed drinks at weekend parties. She shows no overt symptoms of ketoacidosis. All cardiovascular and neurologic signs are within normal range, including a blood pressure of 110/70.
When you question the patient about family history, she reports that her father, now aged 48, was diagnosed with Type 2 diabetes in his early 30s, which she says never surprised anyone in the family since he was always overweight and rarely exercises. She says her father’s elderly uncle also has diabetes, presumably Type 2. More puzzling to her is a “painfully thin” older brother, who was diagnosed with Type I diabetes in his early twenties, although he reputedly often goes days at a time without needing insulin therapy. 
Next Steps
You strongly suspect that this patient may have some form of MODY (Maturity Onset Diabetes of the Young). What would be your next steps in diagnosing and treating her?
1. How to confirm MODY
2. How to treat MODY

Management options

1. Diagnosis of MODY

John L. Leahy, MD

2. Treatment of MODY

Irl B. Hirsch, MD