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Giant prolactinomas are rare tumors characterized by their large size, compressive symptoms, and extremely high prolactin secretion. The aim of this study is to describe our experience with a series of 16 giant prolactinomas cases in terms of clinical presentation, therapeutic decisions, and final outcomes. Retrospective analysis of adult patients diagnosed with giant prolactinomas at the endocrine departments of three university tertiary hospitals. We included 16 patients (43.7 % women); mean age at diagnosis: 42.1 ± 21 years. The most frequent presentation was compressive symptoms. The delay in diagnosis was higher in women (median of 150 months vs. 12 in men; p = 0.09). The mean maximum tumor diameter at diagnosis was 56.9 ± 15.5 mm, and mean prolactin levels were 10,995.9 ± 12,157.8 ng/mL. Dopamine agonists were the first-line treatment in 11 patients (mean maximum dose: 3.9 ± 3.2 mg/week). Surgery was the initial treatment in five patients and the second-line treatment in six. Radiotherapy was used in four cases. All patients but one, are still with dopamine agonists. After a mean follow-up of 9 years, prolactin normalized in 7/16 patients (43.7 %) and 13 patients (81 %) reached prolactin levels lower than twice the upper limit of normal. Mean prolactin level at last visit: 79.5 ± 143 ng/mL. Tumor volume was decreased by 93.8 ± 11.3 %, and final maximum tumor diameter was 18.4 ± 18.8 mm. Three patients are actually tumor free. Giant prolactinomas are characterized by a large tumor volume and extreme prolactin hypersecretion. Multimodal treatment is frequently required to obtain biochemical and tumor control.

To assess the predictive value of some clinical and biochemical parameters, and of the +49 A/G polymorphism of the CTLA-4 gene, for long-term remission following the withdrawal of antithyroid drugs before starting antithyroid drug therapy. Observational, prospective and longitudinal study. Seventy-two patients (11 of whom were men) with newly diagnosed Graves’ hyperthyroidism who had been attended consecutively at a University Clinic in a population with sufficient iodine intake were included in the study. Exclusion criteria: patients under the age of 18, pregnant women and non-Caucasian patients. All subjects were treated following a well-defined protocol. Long-term remission was calculated at 12 and 36 months following withdrawal of the antithyroid drug. Thirty-six of the 72 study subjects experienced a remission of at least 12 months following withdrawal of methimazole, with no differences according to their age or sex. A comparison made between the remission rates seen in both groups yielded significant differences regarding the presence of Graves’ orbitopathy, the duration of the treatment with methimazole and the absence of the CTLA-4 G/G genotype. In the univariate and multivariate analyses performed, only lower frequencies of Graves’ orbitopathy and an absence of the CTLA-4 G/G genotype were considered independent predictors of long-term remission. The absence of Graves’ orbitopathy and of the CTLA-4 G/G genotype are independent predictors of long-term remission following a first course of antithyroid drugs.

Background: Graves’ disease (GD) is an autoimmune disease that develops as a result of a complex interaction between genetic and environmental factors. Numerous studies have demonstrated the important role of CTLA4 gene polymorphisms in the susceptibility to this disease. The CTLA4 gene is located on chromosome 2q33 and codes for the T-cell receptor, which negatively modulates the immune response by disabling T cells. Objectives: The aim of the present work was to determine whether A/G dimorphism at position +49 of exon 1 in the CTLA4 gene contributes to the severity and clinical manifestations of GD. Patients and Methods: We performed clinical and genetic studies on 100 Graves’ patients and 50 healthy controls. We determined the subjects’ genotypes for the +49 A/G polymorphism of the CTLA4 gene by PCR and an enzyme restriction test. Comparison of individual clinical and laboratory variables between genotypes was performed using SPSS 17. 0 (SPSS, Chicago, IL, USA). Results: We found a statistically significant relationship between CTLA4 gene polymorphism and ophthalmopathy in Graves’ patients. Conclusions: The +49A/G SNP of the CTLA4 gene is related to the development of Graves’ disease; however, more studies are necessary to clarify the role of the CTLA4 gene in influencing GD susceptibility and to explore other potential costimulation pathways in this disorder.

We reported a case of a 26-year-old female who was referred to our clinic with the diagnosis of possible acromegaly. She was born from a term pregnancy by forceps delivery. The patient was diagnosed as having hip luxation at one month and spoke her first word at 15 months. She had been diagnosed at the age of 9 years old as having perinatal encephalopathy with intellectual and motor affectation. Since this period of time she has undergone an insidious change in her appearance, mainly comprising progressive coarsening of the face. For this reason she was submitted to our clinic with presumed acromegaly. Dynamic tests of growth hormone secretion ruled out such a diagnosis. The Patient was considered as having "acromegaloidism", a term used for patients whom manifest clinical features of acromegaly but do not present a demonstrable growth hormone hypersecretion. Subsequently cytogenetic evaluation revealed an infrequent chromosome pattern: X-Tetrasomy. In the present article a differential diagnosis of acromegaloidism and the potential role of genes present on X-chromosome involved in human growth such as SHOX gene are discussed. Overdosification of SHOX gene might explain tall stature of girls with X-tetrasomy. Our observation suggested that X-tetrasomy should be considered in the differential diagnosis of acromegaloidism. Furthermore, this may lead to the identification of new genes in the X-chromosome that are important for growth of facial structures.