ACTA ENDOCRINOLOGICA (BUC)

Context. Persistent inflammation and impaired neovascularization are important contributors to the development of diabetic retinopathy (DR). Gene polymorphisms of adiponectin (APN) were demonstrated to have an important role on the plasma level and activity of adiponectin. APN has anti-inflammatory, anti-diabetic and anti-atherogenic properties. Toll-Like Receptor 4 (TLR4) is a critical mediator of innate immunity. Polymorphisms in TLR-4 gene were shown to be associated with impaired inflammatory response in diabetes. Objective. The aim of the study was to analyze the association of +276G>T variant of APN gene and Asp299Gly and Thr399Ile of TLR-4 gene variants in relationship with T2DM and DR in an Eastern European population group. Design. The distribution of the mutant alleles in 198 T2DM patients with DR and 200 non-T2DM controls was examined. Genomic DNA from T2DM patients and healthy controls genotyped through the use of PCR-RFPL assay. Results. Genotype and allele frequencies of the Asp299Gly and Thr399Ile polymorphisms differed between T2DM patients and non diabetic subjects (P<0.001). Moreover, the presence of the minor alleles of these polymorphisms were significantly identified as protective factors against T2DM, under a dominant model of Fisher’s exact test (χ2=4.988, phi=0.745, OR=0.767, 95% CI=0.602-0.867, P<0.001; respectively χ2=5.254, phi=0.820, OR=0.487, 95% CI=0.211- 0.648, P<0.001). Genotype analysis for the adiponectin 276G>T gene polymorphism yielded no significant association with T2DM, but revealed a borderline significance for the association with DR (χ2=5.632, phi=0.423, OR =1.101, 95% CI=0.887-1.203, P=0.009). Conclusions. We found an association between the TLR4 Asp299Gly and Thr399Ile polymorphisms and protection for DR. The APN genetic polymorphism is not associated with T2DM.

We report ATR/X syndrome in two brothers aged 11 months and 6 years respectively. They were born to young, normal and nonconsanguineous parents, and belong to a sibship of five, the other three sisters being normal and healthy. The diagnosis was suspected on particular craniofacial dysmorphism associated with mental retardation (profound in the older brother and moderate in the younger). Hematological investigations and in particular the presence of HbH inclusions in the red cells (&#945;-thalassemia) were conclusive for the diagnosis. The presence of 1% of HbH inclusions in the red cells of the mother and the pedigree analysis confirmed the X-linked inheritance.

We report on a 4-years old girl with mosaic Turner karyotype: 45X/46XX (10% the 45,X line, 90% 46,XX line) / karyotype performed by the classical method and direct FISH (centromeres X and Y on buccal smears). As turnerian manifestations she presented short stature (more than &#8211;2 SD), mental retardation and slightly webbed neck. The most clinical manifestations were suggestive for the Kabuki syndrome, i.e.: -peculiar facies: very long palpebral fissures, arching of the eyebrows, short nasal septum, cleft palate, open mouth; -ventricular septal defect, left renal agenesis, dislocated hip on the left side. We present shortly the Kabuki and Turner syndromes and discuss the relationship between them.

About 15-20% of adults with Down?s syndrome have autoimmune hypothyroidism. Among patients with Down?s syndrome, prevalence of Graves disease (1-2%) may not be increased compared with the general population. About 15% of the patients with Turner?s syndrome have autoimmune hypothyroidism. Until 2006, only 15 cases of Graves disease have been reported among patients with Turner?s syndrome. We present two adult patients with chromosomial disorders (Down?s syndrome, Turner?s syndrome) with Graves? disease without clinical Graves ophthalmopathy. Clinical picture of thyrotoxicosis was oligosymptomatic in the patient with Down?s syndrome, probably because Down?s syndrome represents a syndrome of accelerated ageing. Both were pretreated with antithyroid drugs before radioiodine therapy. Both patients developed postradioiodine hypothyroidism: after 8 months in the case with Turner?s syndrome and after 11 years in the patient with Down?s syndrome. Adults with these two chromosomial disorders should be screened annually for autoimmune thyroid dysfunction.

Context. Hepatitis C and diabetes represent important health problems globally. The new-onset diabetes after transplantation is a particular entity that appears due to the use of immunosuppression among transplanted patients. Objective. We aim to describe the clinical and biological aspects of severe hyperglycemia in a kidney transplant recipient undergoing Interferon-free therapy for chronic hepatitis C, discussing the interference of different factors with the glucose metabolism. Design. The occurrence of diabetes in a patient with history of renal transplantation and Interferon-free treated hepatitis C was studied from both clinical and paraclinical points of view. Subjects and methods. When presenting to the hospital, extensive blood tests were performed on the patient, revealing significant hyperglycemia and an elevated level of blood tacrolimus. Creatinine clearance was calculated. ECG presented T-wave alterations. Intensive insulin protocol was applied, the case being managed in a multidisciplinary approach. Results. Blood glucose and tacrolimus were slowly normalized, under therapy. The antiviral treatment was continued, with the achievement of sustained virologic response. Conclusions. Diabetes mellitus can have many causes, hepatitis C and transplantation both having an impact on glucose metabolism. The association of the three entities should be carefully managed, due to its enhancing effect on morbidity and mortality.