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Background/Aims: Patients with type 1 diabetes mellitus (T1DM), autoimmune thyroiditis (ATD), and celiac disease (CD) are at increased risk for developing other autoimmune diseases. We evaluated zinc transporter 8 (ZnT8) prevalence in patients with ATD and/or CD in order to define the usefulness of ZnT8 autoantibodies for prediabetes screening. Methods: Eighty-one young patients with ATD and/or CD were included in the study; 32 subjects with clinical onset of T1DM were enrolled as a control group. GAD65, IA-2, and ZnT8 antibodies were measured. An intravenous glucose tolerance test, C-peptide, glycosylated hemoglobin levels, and genomic analysis of HLA-DQA1* and -DQB1* were also considered in patients positive for autoantibodies. Results: The ZnT8 prevalence was higher in T1DM patients than in patients with other autoimmune diseases (p < 0.001); positive ZnT8 detection was found in 2 ATD (p = 0.004) and 3 ATD + CD (p = 0.04) patients. Positive ZnT8 was associated with GAD65 (p = 0.01) but not with IA-2 positivity. No correlation between ZnT8 detection and the number of T1DM-susceptible HLA-DQ heterodimers was found. Pathological C-peptide levels and insulin response were found in subjects with islet autoimmunity and genetic susceptibility. Conclusion: ZnT8 autoantibodies detection in ATD and/or CD patients is low, and routine ZnT8 screening is not justified. ZnT8 evaluation may be recommended in subjects with autoimmune diseases as a marker for predicting compromised insulin secretion.

Aim of the study Turmer syndrome (TS) patients show increased morbidity due to metabolic, autoimmune and cardiovascular disorders. A risk of neoplasia is also reported. Here, we review the prevalence of neoplasia in a cohort of Turner patients. Methods We retrospectively evaluated 87 TS women. Follow-up included periodic ultrasound of the neck, abdominal and pelvic organs, dermatologic evaluation and fecal occult blood test. Karyotype was 45,X in 46 patients. During follow-up, 63 girls were treated with growth hormone, 65 with estro-progestin replacement therapy and 20 with L-thyroxine. Autoimmune diseases were present in 29 TS. Results A total of 17 neoplasms in 14 out of 87 patients were found. Six skin neoplasia, 3 central nervous system tumors, 3 gonadal neoplasia, 2 breast tumors, 1 hepatocarcinoma, 1 carcinoma of the pancreas and 1 follicular thyroid cancer were detected. Age at tumor diagnosis was higher in 45,X pts than in those with other karyotypes (p = 0.003). Adenomioma gallbladdder (AG) was detected in 15.3% of the patients, with a lower age in girls at diagnosis with an associated neoplasia in comparison with TS without tumors (p = 0.017). No correlation between genetic make up, treatment, associated autoimmune diseases and neoplastia was found. Conclusion In our TS population an increased neoplasia prevalence was reported. A high prevalence of AG was also noted and it might be indicative of a predisposition to neoplasia. Further studies are needed to define the overall risk for neoplasia, and to determine the role of the loss of the X-chromosome and hormonal therapies.

The metabolic syndrome (MetS) is a common basis for the development of atherogenic cardiovascular disease. Adiponectin has been demonstrated to be insulin-sensitizing and an anti-atherogenic factor and is considered a key ofMetS. It was suggested that IL-10 may be involved in the inflammatory network of MetS in relation to adiponectin. We examined the relationship between adiponectin, IL-10 and MetS in pediatric obese patients. MetS components were assessed in 70 severely obese and 30 non-obese children and adolescents. Serum levels of adiponectin and IL-10 were measured in these subjects. Serum adiponectin levels were significantly lower (p0.001) and levels of IL-10 were significantly higher (p = 0.012) in obese subjects. MetS was present in 35.71% of obese patients. Patients with MetS showed a borderline significant decrease in serum adiponectin levels and significantly increased IL-10 levels when compared to those without MetS (p = 0.051 and p = 0.031, respectively); the differences in adiponectin and IL-10 values were controlled to the effect of BMI. No correlation between adiponectin and IL-10 levels was found. Our obese children showed hypoadiponectin and hyper-IL10 values. MetS was not associated with low IL-10. We probably observe a first phase of the complex mechanism implicated in the development of the MetS in children.

Background: Studies on fertility in women with Turner syndrome have shown that spontaneous pregnancies occur in about 2–7% of patients. Fertility problems and obstetrical complications are frequently observed in untreated patients with celiac disease. We report the case of a patient, affected by Turner syndrome and celiac disease, in whom a spontaneous pregnancy occurred. Case: One patient affected by Turner syndrome at the age of 30 yr conceived spontaneously. Celiac disease was diagnosed during pregnancy. The pregnancy progressed uneventfully. After 39 weeks of gestation, she vaginally delivered a normal male infant. Conclusion: Our patient had a successful pregnancy, giving birth to a healthy child, although she presented two pathological conditions affecting fertility and pregnancy outcome: Turner syndrome and celiac disease.