An Adolescent with Unexplained Diabetes Mellitus and Associated Congenital Genitourinary Anomalies: A Case Report
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Abstract
Maturity-onset diabetes of the young (MODY) is a rare form of diabetes in Malaysia and globally. At least 14 recognised types are linked to different genetic mutations. Mutations in the glucokinase (GCK) gene and the hepatocyte nuclear factor 1 alpha and 4 alpha (HNF1A/HNF4A) genes account for nearly 80% of MODY cases, highlighting the importance of these genetic factors. We present a young female patient with a single right kidney, a bicornuate uterus, and diabetes mellitus. Her strong family history of diabetes and renal issues underscores the importance of recognising this diagnosis. Genetic testing is the gold standard for diagnosing MODY, but access and affordability can be challenging for patients in Malaysia.
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