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Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have been changing with time. Interventional changes in the clinical-psychotherapeutic-surgical areas of DSD determine not only different medical recommendations but also help to place the patient and the family into the decisional process of therapy. We must consider two paradigmatic periods that have influenced and transformed the clinical management framework of patients with DSD: a) The "Money era" (1955), which emphasized the role of the gonads as the diagnostic criterion, having the environment as determinant of the sex identity; and b) The Chicago Consensus (2005) phase, in which the role of genetics and molecular biology was critical for an early identification, as well as in building a proper sex identity, emphasizing ethical questions and the "stigma culture". In addition, recent data have focused on the importance of interdisciplinarity and statements on questions concerning Human Rights as key factors in treatment decision making. Despite each of these management models being able to determine specific directions and recommendations regarding the clinical handling of these patients, we verify that a composite of these several models is the clinical routine nowadays. In the present paper, we discuss these several paradigms, and pinpoint clinical differences and their unfolding regarding management of DSD patients and their families.

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Melatonin referred as the hormone of darkness is mainly secreted by pineal gland, its levels being elevated during night and low during the day. The effects of melatonin on insulin secretion are mediated through the melatonin receptors (MT1 and MT2). It decreases insulin secretion by inhibiting cAMP and cGMP pathways but activates the phospholipaseC/IP3 pathway, which mobilizes Ca2+from organelles and, consequently increases insulin secretion. Both in vivo and in vitro, insulin secretion by the pancreatic islets in a circadian manner, is due to the melatonin action on the melatonin receptors inducing a phase shift in the cells. Melatonin may be involved in the genesis of diabetes as a reduction in melatonin levels and a functional interrelationship between melatonin and insulin was observed in diabetic patients. Evidences from experimental studies proved that melatonin induces production of insulin growth factor and promotes insulin receptor tyrosine phosphorylation. The disturbance of internal circadian system induces glucose intolerance and insulin resistance, which could be restored by melatonin supplementation. Therefore, the presence of melatonin receptors on human pancreatic islets may have an impact on pharmacotherapy of type 2 diabetes.

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Objective To evaluate the effect of six-week anaerobic training on the mRNA expression of genes related to proteolysis Ubb (Ubiquitin), E2-14kDa, Trim63 (MuRF1 protein) and Nfkb1 in the skeletal muscle of diabetic rats. Materials and methods Four groups were established: DE (DiabetesExercised), DS (Diabetes Sedentary), CE (Control Exercised) and CS (Control Sedentary). The training consisted of 3 sets of 12 jumps in the liquid mean with load equivalent to 50% of BW for 6 weeks. Euthanasia occurred under ip anesthesia, and blood, adipose tissue and skeletal muscles were collected. Gene expression was quantified by RT–PCR in the gastrocnemius muscle. ANOVA one-way was used for comparison among groups, with post-hoc (Tukey) when necessary, considering p < 0.05. Results We observed reduction in the body weight and adipose tissue in the diabetic groups. The muscle mass was reduced in DS, which could be reversed by training (DE). Although DS and DE have presented similar body weight, the training protocol in DE promoted reduction in the adipose tissue, and increase of muscle mass. Anaerobic training was efficient to reduce glycaemia only in the diabetic animals until 6 hours after the end of training. The Trim63 gene expression was increased in DS; decreased Ubb gene level was observed in trained rats (CE and DE) compared to sedentary (CS and DS), and DE presented the lowest level of E2-14kDa gene expression. Conclusion Six-week anaerobic training promoted muscle mass gain, improved glycemic control, and exerted inhibitory effect on the proteolysis of gastrocnemius muscle of diabetic rats.

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Objective There is a growing body of data supporting the association between diabetes and microcirculatory disfunction. We aimed to study e-selectin levels, and their associations with serum markers of inflammation and arterial stiffness in prediabetes and newly diagnosed diabetes patients in this study. Subjects and methods Sixty patients (25 females) with a newly established elevated fasting serum glucose [20 impaired fasting glucose (IFG), 20 impaired glucose tolerance (IGT), 20 newly diagnosed diabetes (T2DM)] and 17 healthy controls (13 females) were included in the study. Serum e-selectin and hs-CRP levels, and arterial stiffness parameters of the patients were studied. Results Fasting serum glucose was the most important predictor of serum e-selectin levels. Pulse wave velocity and central aortic pressures were significantly higher in IFG, IGT and T2DM groups, compared to controls (p = 0.001, < 0.001, 0.013 and 0.015, 0.002, 0.009, respectively). The mean arterial pressure did not show any significant association with serum e-selectin and hs-CRP levels (β coefficient: 0.092, p = 0.358; and β coefficient: 0.189, p = 0.362, respectively). Conclusion Prediabetes patients have increasing e-selectin levels through the diagnosis of T2DM. E-selectin is associated with serum glucose levels. Prediabetic and newly diagnosed diabetics have higher arterial stiffness measurements. Serum e-selectin may be a good marker of endothelial inflammation and dysfunction increasing in parallel with serum glucose levels, predicting future cardiovascular events.

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Objectives To describe population reference values for shoes size, and to identify possible disproportional foot growth during GH therapy. Materials and methods Construction of percentile chart based on 3,651 controls (male: 1,838; female: 1,813). The GH treated group included 13 children with idiopathic short stature (ISS) and 50 children with normal height, but with height prediction below their target height; male: 26 and female: 37 mean ± SD age 13.3 ± 1.9 and 12.9 ± 1.5 years, respectively. GH (0.05 mg/kg/day) was used for 3.2 ± 1.6 years, ranging from 1.0-10.3 years. Height expressed as SDS, target height (TH) SDS, self-reported shoes size and target shoes size (TSS) SDS were recorded. Results Reference values were established showed as a foot SDS calculator available online at www.clinicalcaselearning.com/v2. Definitive shoes size was attained in controls at mean age of 13y in girls and 14y in boys (average values 37 and 40, respectively). In the study group, shoes size was -0.15 ± 0.9 and -0.02 ± 1.3 SDS, with target feet of 0.08 ± 0.8 and -0.27 ± 0.7 SDS in males and females, respectively. There was a significant positive correlation between shoes size and familial TSS, between shoes size and height and between TSS and TH. There was no correlation between duration of GH treatment and shoes size. Our data suggest that during long-term treatment with GH, patients maintain proportional growth in shoes size and height, and the expected correlation with the familial target. Conclusions We conclude that there is no excessive increase in the size of foot as estimated by the size of shoes in individuals under long term GH therapy.

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Objectives To compare the effect of the consumption of buriti oil and soybean oil on the metabolism of rats under stress induced by iron overload. Materials and methods A total of 28 rats were randomized into control groups who consumed diet added of soybean (CS) or buriti oil (CB) and gavage with saline and two experimental groups who consumed diet added of soybean (ES) or buriti oil (EB) and daily gavage with iron II sulfate as stress inducer. The fatty acid profile of diets was analyzed. Body weight and diet consumption were evaluated every two days. The lipid profile and liver weight of animals were evaluated at the end of the experiment. Results Diet added of soybean oil showed higher percentage of polyunsaturated fatty acids (45.6%) and diet with buriti oil was rich in monounsaturated fatty acids (66.9%). There were no differences in food intake, total cholesterol, HDL-cholesterol and LDL-cholesterol among groups (p > 0.05). However, animals fed with diet supplemented with buriti oil showed intermediate triglyceride levels (CB: 65 mg/dL; EB: 68.7 mg/dL) compared to ES group (102.5 mg/dL). The liver of rats from the CS group had higher weight (2.06 ± 0.2 g) compared to the CB group (1.56 ± 0.1 g). Conclusion Buriti oil consumption was able to minimize some changes related to iron overload.

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Objective The aim of the present study was to identify a fast, efficient and low-cost method to diagnose hypoparathyroidism after total thyroidectomy. Materials and methods One hundred and forty medical records, which contained patients’ clinical and laboratory data, were retrospectively analyzed. Patient parathyroid hormone values, which were obtained immediately following operation, were compared with their ionized calcium levels the morning after surgery. This comparison was used to examine the correlation between the two variables in predicting hypoparathyroidism because measuring calcium levels is low-cost and more available in the hospitals compared to measuring parathormone (PTH) levels. Results There was a positive and statistically significant correlation between PTH and ionized calcium values (Pearson correlation coefficient, r = 0.456; p < 0.0001). The values of first postoperative day ionized calcium levels (stratified by the 1.10 mmol/l cut-off value) were tested as a diagnostic measure for hypoparathyroidism, and a PTH < 15 pg/mL obtained immediately following operation served as a reference. This analysis showed that ionized calcium levels measured on the first postoperative day had a sensitivity of 45.6% (95% CI 30.9-61.0%), a specificity of 88.9% (95% CI 80.5-94.5%) and an accuracy of 76.7% (95% CI 68.7-83.5%) as a diagnostic measure for hypoparathyroidism. Conclusion In conclusion, we demonstrated that patients who had high ionized calcium levels on the first postoperative day also had high PTH levels immediately following operation and, therefore, they had lower rates of hypoparathyroidism.

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Objective This study aimed to evaluate the results of thyroid surgeries with hospitalization periods shorter than 18 hours performed in a surgical endocrinology service, correlating these results with type of procedure, the definitive diagnosis and complications associated with the procedure. Subjects and methods The procedures performed, complications associated, hospitalization period, and relationships among these variables were assessed in consecutive patients subjected to different types of thyroid surgeries from January 1997 to March 2014 by the same group of surgeons. Data were analyzed by frequency, and the associations between the hospitalization period and other variables were analyzed using the Pearson chi-square test and Fisher’s exact test, using a multiple comparisons test with Bonferroni correction. Results Among the 3,411 surgeries performed, 799 of them were malignant neoplasia, 2,505 were benign tumors and 107 were Graves’ disease. The following procedures were performed: total thyroidectomy (1597 patients); total thyroidectomy with neck exploration (369 patients); lobectomy plus isthmectomy (1084 patients); total thyroidectomy complementation (145 patients); total thyroidectomy with neck dissection (84 patients); modified radical total thyroidectomy (13 patients); nodulectomy (11 patients); unresectable (9 patients); central neck dissection (48 patients); lateral neck dissection (38 patients); and others (13 patients). The following surgical complications, characteristic of the procedure: hemorrhage in 41 (1.2%) patients, hypoparathyroidism in 10 (0.3%) patients and recurrent laryngeal nerve (RLN) injury in 23 (0.7%) patients. Hospitalization shorter than 18 hours was observed in 97% of patients. Conclusion Thyroid surgery can be safely performed in virtually all patients on an overnight basis in specialized services.

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Objectives Primary aldosteronism (PA) is characterized by the autonomous overproduction of aldosterone. Its prevalence has increased since the use of the aldosterone (ALD)/plasma renin activity (PRA) ratio (ARR). The objective of this study is to determine ARR and ARC (ALD/plasma renin concentration ratio) cut-off values (COV) and their diagnostic concordance (DC%) in the screening for PA in an Argentinian population. Design multicenter prospective study. Subjects and methods We studied 353 subjects (104 controls and 249 hypertensive patients). Serum aldosterone, PRA and ARR were determined. In 220 randomly selected subjects, 160 hypertensive patients and 60 controls, plasma renin concentration (PRC) was simultaneously measured and ARC was determined. Results According to the 95th percentile of controls, we determined a COV of 36 for ARR and 2.39 for ARC, with ALD ≥ 15 ng/dL. In 31/249 hypertensive patients, ARR was ≥ 36. PA diagnosis was established in 8/31 patients (23/31 patients did not complete confirmatory tests). DC% between ARR and ARC was calculated. A significant correlation between ARR and ARC (r = 0.742; p < 0.0001) was found only with PRA > 0.3 ng/mL/h and PRC > 5 pg/mL. DC% for ARR and ARC above or below 36 and 2.39 was 79.1%, respectively. Conclusion This first Argentinian multicenter study determined a COV of 36 for ARR and 2.39 for ARC. Applying an ARR ≥ 36 in the hypertensive group, we confirmed PA in a higher percentage of patients than the previously reported one in our population. As for ARC, further studies are needed for its clinical application, since DC% is acceptable only for medium range renin values.

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Objective To investigate whether vitamin D deficiency is associated with high mean platelet volume (MPV) in pregnancies diagnosed with gestational diabetes mellitus (GDM) compared to healthy pregnancies. Subjects and methods This study included 200 pregnant women. 25-hydroxyvitamin D3(25(OH)D3) and MPV values were monitored between pregnant women with GDM and normal glucose metabolism. Correlation between 25(OH)D3 and MPV was calculated both in GDM and healthy pregnancies. Both 25(OH)D3 level in different MPV percentile (≤ 50, 50-75, 75-90, ≥ 90 percentile) and MPV value in different 25(OH)D3 level (≤ 10, 10-20, ≥ 20 ng/mL) were calculated. Results Low 25(OH)D3 level and high MPV were observed both in GDM group (p = 0.007, p = 0.06, respectively) and in glucose metabolism disorders (GMD) group (p = 0.03, p = 0.04, respectively). There was no significant relationship between 25(OH)D3 and MPV in healthy pregnancies. Whereas, it is observed that there is a negative, but statistically insignificant correlation between MPV and 25(OH)D3 pregnant women with GMD (r = 0.1, r = -0.7, respectively). MPV values had significantly higher in vitamin D deficient group than pregnant women with normal 25(OH)D3 level in GMD group (p = 0.04). The optimal 25(OH)D3 cut off point for predicting future cardiovascular risk was 10.4 ng/ mL (area under curve (AUC) = 0.58). Conclusions Vitamin D deficiency may contribute to an increased risk for future cardiovascular diseases and a risk of thrombotic complications in pregnant women with GDM.

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Brown tumors are rare skeletal manifestations that occur in less than 2% of primary hyperparathyroidism (PHPT) cases. Even rarer is the occurrence of brown tumor of the orbit, and few cases have been reported around the world. The rare instance of this benign tumor has prompted us to report the case and treatment of an orbital brown tumor in a patient with PHPT caused by parathyroid adenoma. We present the case of a patient undergoing follow-up at a referral center. The 60-year-old female patient, presented herself with progressive swelling in the nasal region, epistaxis and proptosis, she had noticed seven months prior to our examination. Multiple imaging and laboratory findings revealed parathyroid hormone (PTH)-dependent hypercalcemia (total calcium = 14.3 mg/dL and PTH = 1,573 pg/mL), a nodular lesion in the upper pole of the left thyroid lobe and increased uptake in left upper cervical region. The patient underwent left superior parathyroidectomy in September 2011, which led to the normalization of hypercalcemia and regression of the orbital tumor, as seen on control CT scan. This case highlights the spontaneous regression of the brown tumor after surgical management of the parathyroid adenoma.

Resumo em Inglês:

Primary hyperparathyroidism is a disease characterized by excessive production of parathyroid hormone (PTH), which is due to a parathyroid adenoma in 85% of cases. An atypical parathyroid adenoma, with some histopathological features of parathyroid carcinoma, may be found in some of the cases, although it may not fulfill all the criteria for this diagnosis. Neurofibromatosis type 1 (NF1) is an autosomal dominant systemic disease that may be associated with hyperparathyroidism. We report here the rare combination of a patient with NF1 and clinical manifestations of hyperparathyroidism due to an atypical parathyroid adenoma.

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Hyperinsulinemia, diagnosed by laboratory tests, should be diagnosed and treated as soon as possible to prevent fatal complications such as neurological damage. Patients who are resistant to medical therapy should be treated surgically. Minimally invasive surgery, a newly developed approach, is a good choice among surgical procedures to avoid unnecessary extensive pancreatectomy. Here, a 12-year-old boy is presented with diagnosis of hyperinsulinemic hypoglycemia who had recurrent attacks of hypoglycemia and seizures from infancy. Because of his unresponsiveness to medical therapy and his family’s preference, he underwent laparoscopic pancreatectomy to reduce morbidity and hospital stay. Two years postsurgical follow-up revealed a normo-glycemic state.

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Objective We report the preliminary assessment of InsuOnline©, a serious game designed for medical education on insulin therapy. Materials and methods We conducted a pilot study with 41 undergraduate medical students and Internal Medicine residents to assess the educational effectiveness of InsuOnline©, as compared to a traditional educational activity (lecture, cases discussion). Knowledge, skills and beliefs on insulin therapy were evaluated by a questionnaire applied before, immediately after, and 3 months after both interventions. Results Mean knowledge/skills score was improved from 68% to 89% in traditional education group (n = 23; p < 0.001), and from 61% to 90% in game group (n = 18; p < 0.001). After 3 months, mean score decreased (to 80% in traditional education group, and to 78% in game group; p < 0.001 for both) but remained significantly higher than at baseline in both groups (p < 0.001 for both). Although mean score was lower in game group than in traditional education group at baseline (p = 0.04), no difference remained between groups either immediately or 3 months post-intervention. Score increment was better with the game (29%) than with traditional education (21%; p = 0.04). Beliefs improved in the game group only. Conclusions InsuOnline© is at least as effective as a traditional educational activity for medical education on insulin therapy, and it can a good option for large-scale continuing medical education on diabetes. Arch Endocrinol Metab. 2015;59(5):470-3