Introduction:

MODY (maturity-onset diabetes of the young) diabetes mellitus comprises a group of genetic disorders that cause pancreatic beta-cell malfunction. This type of diabetes occurs between 1-2% of all cases of diabetes mellitus (DM). Its definitive diagnosis is by identifying the affected gene, however, due to lack of resources, these patients are usually diagnosed only with clinical data.

Presentation of the case:

A 10-year-old female patient admitted to the emergency department due to a urinary tract infection, but since fasting glucose was detected at 256 mg/dL and glycosuria, a diagnosis of DM was made. Months later, the patient was treated as MODY due to a history of early-onset diabetes in first-degree relatives, because insulin resistance was not detected, anti-glutamate decarboxylase antibodies (GADA) were negative, the pancreatic reserve was preserved, as well as due to adequate response to insulin secretagogues.

Conclusions:

MODY is probably underdiagnosed because it is difficulty to dispose specific genetic tests. However, family history, clinical features, and laboratory tests can lead to a clinical diagnosis of MODY. The detection of this type of diabetes allows to provide a more adequate treatment.

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