Introduction: VATER syndrome is a rare, usually sporadic, entity, including ≥2 of the following: vertebral defects (V), anal atresia (A), tracheoesophegeal fistula, esophageal atresia (TE) and radial or renal dysplasia (R).
Maturity onset diabetes of youth (MODY) is a usually non-insulin-dependent type of monogenic diabetes mellitus (DM), usually in adults <25 years, with autosomal dominant inheritance, without the features of metabolic syndrome.
Case report: A 25-year-old Caucasian male with VATER syndrome was admitted to our department due to newly diagnosed DM on occasion of polydepsia and polyuria, without ketoacidosis (fasting plasma glucose (FPG) levels: 355 mg/dl, glycosylated hemoglobin (HbA1c): 12.6%). His family history was positive for non-insulin dependent DM (diagnosed at 35 years).
Clinical examination was remarkable for a low body mass index (18.28 kg/m2), muscular weakness of the extremities and hearing loss.
Investigation for autoantibodies to glutamic acid decarboxylase (GAD), insulin, islet cells and tyrosine phosphatase (IA2) was negative.
During an oral-glucose-tolerance-test (OGTT), FPG, fasting insulin and C-peptide levels at baseline were: 150 mg/dl, 2 mIU/ml (normal: 627) and 1.07 ng/ml (normal: 0.97.1), and 2 h after glucose 75 g: 256 mg/dl, 11.7 mIU/ml and 3.38 ng/ml, respectively.
He was treated with glimepiride 2 mg/day. At 3 months, HbA1c fell to 5.9%. He remained on glimepiride for 1 year, when due to glucose control deterioration, insulin was started.
He fulfils the five criteria of MODY: early-age newly DM with normal insulin and C-peptide levels, positive family history for DM, >90 mg/dl increase in plasma glucose during OGTT, glycosuria with relatively normal FPG and responsiveness to sulfonylureas. Genetic analysis for MODY 3 (the most common) was negative. Further testing to rule out mitochondrial diabetes is under way.
Conclusions: This is the first case reporting the co-existence of MODY with VATER syndrome. The exact pathogenetic mechanisms linking these entities are currently unknown.