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Until early 2000, permanent and transient neonatal diabetes mellitus (NDM), defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks, were considered exceedingly rare conditions, with a global incidence of 1:500,000-1:400,000 live births. The new definition of NDM recently adopted, that includes patients with diabetes onset within 6 months of age, has prompted studies that have set the incidence of the permanent form alone between 1:210,000 and 1:260,000 live births. Aim of the present work was to ascertain the incidence of NDM (i.e. permanent + transient form) in Italy for years 2005-2010. Patients referred to the Italian reference laboratory for NDM between years 2005 and 2010 and screened for mutations in common NDM genes ( KCNJ11, ABCC8, and INS) and for uniparental isodisomy of chromosome 6 (UDP6) were reviewed. A questionnaire aimed at identifying NDM cases investigated in other laboratories was sent to 54 Italian reference centers for pediatric diabetes. Twenty-seven patients with NDM born between 2005 and 2010 were referred to the reference laboratory. In this group, a mutation of either KCNJ11, ABCC8 or INS was found in 18 patients, and a case with UDP6 was identified. Questionnaires revealed 4 additional cases with transient neonatal diabetes due to UDP6. Incidence of NDM was calculated at 1:90,000 (CI: 1:63,000-1:132,000) live births. Thus, with the definition currently in use, about 6 new cases with NDM are expected to be born in Italy each year. [ABSTRACT FROM AUTHOR]

In 129 children, aged 12.6±3.8 years, affected by type 1 diabetes mellitus, the levels of dehydroepiandrosterone sulfate (DHEAS), cortisol, T, fT, T4, fT4, rT, TSH, cholesterol, and triglycerides were evaluated and compared with those of a control group of 458 healthy age-matched children. The results were also correlated with hemoglobin HbA. The DHEAS-standard deviation score (DHEAS-SDS; −0.36±0.77) was significantly different from zero in diabetic children, while the cortisol serum level was higher than in control subjects (485±94 vs 359±132 nmol/l). Moreover, the DHEAS-SDS and DHEAS-SDS/cortisol ratio correlated negatively with HbA. Diabetic patients also showed lower T values (2.22 ± 0.4 vs 2.32±0.3 nmol/l) and a higher rT/T ratio (0.17±0.09 vs 0.15±0.05) than controls. There was a negative correlation between T and HbA. Cholesterol (4.77±1.08 vs 4.51±0.76 mmol/l) and triglycerides (0.82 ±0.53 vs 0.63±0.37 g/L) levels were higher in diabetic children and positively correlated with HbA, but not with DHEAS-SDS. We can therefore conclude that diabetes, particularly if poorly controlled, tends to induce a dissociation of cortisol and DHEAS secretion and a low T syndrome, similar to that seen in other illnesses. [ABSTRACT FROM AUTHOR]