ESPE Abstracts (2014) 82 FC9.5

aDepartment of Paediatric Endocrinology, Gynaecology, and Diabetology, Necker Enfants-Malades Teaching Hospital, Assistance Publique--Hôpitaux de Paris, IMAGINE affiliate, Paris, France; bFaculty of Medi, Paris, France; cINSERM U1016, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; dDepartment of Endocrinology and Diabetology, Montélimar Hospital, Montélimar, France; eDepartment of Paediatric, Mont de Marsan Hospital, Mont de Marsan, France; fDepartment of Paediatric, Besançon Hospital, Besançon, France; gDepartment of Diabetology, La Pité Salpétrière Teaching Hospital, Assistance Publique--Hôpitaux de Paris, France; hFaculty of Medicine Pierre et Marie Curie, Paris, France; iINSERM_UMRS1138, Centre de Recherche des Cordeliers, Paris, France; jDavid Grant USAF Medical Center, Fairfield, California, USA; kDepartment of Diabetology, Montpellier Teaching Hospital, Montpellier, France; lDepartment of Endocrinology and Diabetology, Cholet Hospital, Cholet, France; mThe Jesse Z and Sara Lea Shafer Institute of Endocrinology and Diabetes, The National Center for Childhood Diabetes, Schneider Children’s Medical Centre of Israel, Petah Tikva, France; nDepartment of Paediatric, Nancy Teaching Hospital, Nancy, France; oDepartment of Paediatrics, Paediatric Teaching Hospital, Toulouse, France; pDepartment of Pediatric, Castres Hospital, Castres, France; qDepartment of Internal Medicine, Robert Bisson Hospital, Lisieux, France; rDepartment of Endocrinology, Roanne Hospital, Roanne, France; sDepartment of Paediatrics, Jeanne de Flandre Teaching Hospital, Lille, France; tDepartment of Paediatric, Children Hospital, Roubaix, France; uDepartment of Genetics, Robert-Debré Teaching Hospital, Assistance Publique--Hôpitaux de Paris, Paris, France; vDepartment of Genetics, La Pité Salpétrière Teaching Hospital, Assistance Publique–Hôpitaux de Paris, Paris, France

Background: Transient neonatal diabetes mellitus (TNDM) is a rare genetic β-cell dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Some of these patients suffer from neurodevelopmental defect. Long-term outcome has been poorly investigated.

Objective and Hypotheses: To investigate metabolic and neurologic outcomes in adults affected with TNDM.

Method: The patients originated from the French Neonatal Diabetes Study Group cohort. We selected those with TNDM who were 18 years or more in September 2013. We assessed data on their glucose metabolism and neurodevelopmental outcomes from the medical reports and direct interviews.

Results: We included 24 individuals (seven males and 17 females). We identified 6q24 abnormalities (n=8, 33%), mutations in ABCC8 (n=8, 33%) and KCNJ11 (n=4, 17%) genes. 4 (17%) patients had no identified molecular defect. 23 (96%) patients relapsed their diabetes at a median age of 14.7 years (9.0–45.5). Mode of recurrence, detailed for 18 patients was polyuria–polydipsia (n=8), hyperglycaemia without ketoacidosis during an infectious disease (n=4) and during follow-up (n=6). Follow-up median duration after recurrence was 11.9 years (2.3–40.7) and median HbA1c after relapse 6.6% (5.8–13%). After recurrence, treatments were insulin (n=13), oral antidiabetic drugs (n=8) or both (n=2). Despite frequent observance failure (treatment stopped, n=5 and frequent oversight, n=6), only one patient suffered from ketoacidosis. Long-term diabetes complications occurred (retinopathy, n=3 and nephropathy, n=1). Neurodevelopmental outcomes revealed academic difficulties (n=12, 50%, who repeated a class at least once before the age of 16 years), difficulties interfering with reading achievement (n=8) and spatial disabilities (n=7), whatever the molecular aetiologies.

Conclusion: Our study suggests a partial insulin secretion defect in adulthood and a high incidence of neurodevelopmental difficulties. These results underscore the importance of performing a complete clinical and biological evaluation throughout adulthood in all patients affected with TNDM.

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