MODY: The Commonly Missed Cause Of "Type 1 Or Type 2" Diabetes In Young Adults
Exam/clinic pearl: If a lean 20- or 30-something is still making insulin (C-peptide preserved), has never had DKA, and doesn't look insulin-resistant-pause and consider MODY.
Why genetic testing changes everything
Confirms the diagnosis (prevents years of misclassification).
Tailors therapy:
HNF1A/HNF4A: switch from insulin/metformin to low-dose sulfonylurea (often dramatic HbA1c improvement).
GCK: usually no pharmacotherapy needed; avoid overtreatment.
Guides family screening: autosomal dominant - test first-degree relatives.
Impacts pregnancy management: particularly for GCK, where treatment depends on whether the fetus inherits the variant.
Which test to order? Request a MODY gene panel, or if phenotype strongly fits, start with HNF1A. In primary care, start with antibodies and C-peptide to justify
referral/testing:
Autoantibodies: negative
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