ACE I/D gene polymorphisms and polycystic ovary syndrome manifestations

Naser Ali Mirhosseini, Mahmood Noorishadkam, Mahsa Mohammad Amoli, Amir Hossein Khosravinejad. Four Patients with Neonatal Diabetes Mellitus and their Outcomes: A Case Series. 2024 June 1; 6 (2): 107-112.  Doi:10.18502/wjpn.v6i2.15492

Abstract

Background: Neonatal diabetes mellitus (NDM) is a severe type of glucose metabolism disorder that appears in the first months of life and mostly presents with symptoms such as dehydration, inability to gain weight, and in extreme cases, ketoacidosis and coma. Strong evidence shows the benefits of early molecular tests that investigate variability in kATP channels such as KCNJ11, ABCC8, INS gene mutations, and 6q24 abnormalities. In the presence of these genomics changes, switching from Insulin treatment toward high-dose oral sulfonylurea can enhance the course of treatment, prognosis, and quality of life. Case Report: In this study, we report four cases of neonatal diabetes with different symptoms who were referred to Shahid Sadoughi Medical Center in Yazd, Iran. Conclusion: The diagnosis and treatment of NDM is a good model for implementing patient-centered and personalized medicine. For all patients with diabetes diagnosed before the 6th month of their age (even the 12th month), genetic testing should be considered.

Keywords: Neonatal diabetes mellitus, Glucose metabolism disorder, Insulin, Genetic testing