A sizeable number of cases of diabetes are monogenic, and this must be borne in mind in the etiologic diagnosis of the disease. Maturity-onset diabetes of the young (MODY) is the most prevalent monogenic form. It is characterized by autosomal dominant transmission, early onset, and a primary defect of pancreatic β-cell function. MODY has long been and still is under-reported, because it is frequently either not diagnosed or is misdiagnosed as type 1 or type 2 diabetes, with negative consequences on prognosis and treatment. Correct molecular diagnosis of MODY ensures multiple benefits, including appropriate, effective treatment, more precise prognosis, and genetic counseling for the risk of diabetes among family members. Here we discuss the main clinical and molecular features of the most common MODY subtypes, with particular focus on differential diagnosis in the clinical setting.
|Translated title of the contribution||When hyperglycemia is neither diabetes type 1 nor 2: MODY in clinical practice|
|Number of pages||8|
|Journal||Giornale Italiano di Diabetologia e Metabolismo|
|Publication status||Published - Sep 1 2016|
ASJC Scopus subject areas
- Internal Medicine
- Endocrinology, Diabetes and Metabolism