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World’s first genetic link to transient neonatal diabetes found at BJMC-Sassoon Hospital
The discovery was made in an extremely premature male infant born at 27 weeks of gestation, weighing just 720 grams, who was admitted to the SGH NICU in July 2025.
Pune: Doctors at the Neonatal Intensive Care Unit (NICU) of B J Medical College (BJMC) and Sassoon General Hospital (SGH) have made a global medical breakthrough by identifying the world’s first reported genetic link to Transient Neonatal Diabetes Mellitus (TNDM), an extremely rare condition for the first time discovered in newborns, said hospital officials on Thursday.
The study has been published in the international peer-reviewed Cureus Journal of Medical Science and is the result of a collaborative effort by clinicians and researchers. The discovery was made in an extremely premature male infant born at 27 weeks of gestation, weighing just 720 grams, who was admitted to the SGH NICU in July 2025. Soon after birth, the baby developed persistent and uncontrolled hyperglycemia due to insulin deficiency — a condition known as Neonatal Diabetes Mellitus.
“In premature babies, organs are underdeveloped. When we ruled out common causes of hyperglycemia, nothing was found. The child continued to show high blood sugar levels, weight loss and frequent urination, with his condition gradually worsening. Importantly, there was no history of diabetes in the parents,” said Dr Aarti Kinikar, head of the paediatrics department at BJMC.
As no clear cause was identified, the medical team decided to conduct Whole-Exome Sequencing (WES). The advanced genetic testing revealed a previously unreported homozygous mutation in the MS4A6A gene — a gene never before associated with neonatal diabetes anywhere in the world. Further genetic analysis confirmed the finding, making it the first documented case globally, linking this mutation to transient neonatal diabetes.
Congratulating the team, BJMC dean Dr Eknath Pawar said, “This discovery is a matter of pride not only for Sassoon Hospital but for public healthcare institutions across the country. It demonstrates that government medical colleges can contribute to research of global significance.”
Health experts said the finding has major clinical implications, as identifying transient forms of neonatal diabetes can help avoid unnecessary lifelong insulin therapy in affected children. Dr Kinikar said that after insulin therapy, the baby’s blood sugar levels stabilised and weight gain improved.
“The child was treated until November, after which insulin was stopped and he was discharged. This finding helped confirm that the hyperglycaemia was temporary. Otherwise, such children are often discharged with recommendations for lifelong insulin, which can be unnecessary and potentially harmful,” Dr Kinikar said.
She added that while the MS4A6A gene has been associated with diabetes in adults, it has never been linked to neonatal diabetes in medical literature. “Genetic testing of the parents showed they are carriers but do not have diabetes. However, the grandparents had developed diabetes later in life,” she said.
