AACE Podcasts

Episode 47: AACE Clinical Case Report Special Diabetes Issue: MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome; ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent


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Join endocrine expert Janet B. McGill, MD, MA, FACE, FACP, Professor of Medicine in the Division of Endocrinology, Metabolism and Lipid Research at Washington University School of Medicine, and moderator Sina Jasim, MD, MPH, ACCR Editor-in-Chief, Associate Professor of Medicine, and Endocrine Neoplasia Specialist at Washington University School of Medicine, as they discuss diabetes clinical case reports from the July/August 2023 issue of ACCR. Dr. McGill presents two key cases, MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome, a case of a young woman whose monogenic diabetes was diagnosed after a pathogenic ~1.8 Mb loss of 17q12 was found on the chromosomal microarray of her serous ovarian carcinoma and identifying a disease association not previously reported. The second case was on the maturity-onset of diabetes of the young (MODY), ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent, — a case of type 1 diabetes diagnoses during adolescence, and how the patient was treated with intensive insulin therapy for 17 years before genetic testing showed a pathogenic mutation of the ABCC8 gene. Access the key teaching points and view the full cases of MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome at: https://www.aaceclinicalcasereports.com/article/S2376-0605(23)00093-7/fulltext and ABCC8-Related Monogenic Diabetes Presenting Like Type 1 Diabetes in an Adolescent at: https://www.aaceclinicalcasereports.com/article/S2376-0605(23)00086-X/fulltext

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