Archives of Endocrinology Metabolism最新文献

Objective: Dyslipidemia is a common cardiovascular risk factor, with ongoing debate over whether lipid profile assessment, with or without fasting, affects the accuracy of cardiovascular risk evaluation. The objective of this study is to evaluate the effect of fasting status on lipid profile values and the prevalence of dyslipidemia.

Subjects and methods: A total of 269 adults (20-69 years) from Vitória-ES (Brazil) were included. Two blood samples were collected on the same day: one in the morning after a 10-12-hour fast and the other in the afternoon, post-lunch (1-5 pm). Dyslipidemias were classified according to the Brazilian Guidelines.

Results: The percentage of participants classified with low HDL-c (male: 54.2 vs. 38.2%, p < 0.001; female: 29.7 vs. 15.2%, p < 0.001) and hypertriglyceridemia (male: 59.5 vs. 26.7%, p < 0.001; female: 50.0 vs. 22.5%, p < 0.001) was higher in the non-fasting state. Furthermore, HDL-c levels were higher in after fasting. Triglyceride levels were higher in the non-fasting state, while LDL-c concentrations were slightly reduced in the non-fasting state. Without fasting, 85 individuals previously classified as having normal TG were reclassified as having hypertriglyceridemia, and 41 individuals previously classified as having normal HDL-c were reclassified as having low HDL-c.

Conclusion: The feeding state is key to detecting and managing dyslipidemias, especially hypertriglyceridemia and low HDL-c. Removing the fasting requirement could improve cardiovascular risk identification, increase patient adherence to testing and treatment. However, the significant differences in the lipid profile concentrations must be considered in the patient's management in the clinical practice.

Objective: To evaluate cyclical and seasonal variation in the incidence of type 1 diabetes mellitus (T1DM) from 1985 to 2016 in Bauru, São Paulo, Brazil.

Subjects and methods: This was a retrospective longitudinal study. Clinical data were collected for individuals known to have T1DM, who aged from 0-14 years, residing in Bauru, São Paulo State, and followed at a local endocrinology clinic from 1985 to 2016. Incidence rates were calculated annually and grouped into quadrennial intervals. Trends were analyzed using Joinpoint Regression to estimate annual percentage changes. Poisson regression models assessed cyclical and seasonal patterns over various periods (3- to 7.5-year cycles). Seasonal variation was evaluated using the Akaike Information Criterion and chi-square likelihood ratios to assess model fit.

Results: Among the 298 included patients, the mean annual incidence was 12.1 per 100,000 person-years (95% CI: 10.7-13.4), with an average annual increase of 2.77% (95% CI: 1.3-4.3%). A significant cyclical variation of 18% every 7.5 years was observed, with girls exhibiting a 22.9% variation every 5 years. No cyclical pattern was identified for boys. Seasonal analysis revealed higher amplitudes among girls (±26.4%) and in the 5-9.99-year age group (±26.2%), predominantly during colder months.

Conclusion: T1DM cyclical variations with a 7.5-year cycle were observed, with girls showing a pronounced variation and a distinct 5-year cycle. Seasonal variations were found among girls, particularly in the 5-9.99-year age group. Outbreaks of H1N1 and dengue, along with the lowest temperatures, coincided with higher incidence rates, aligning with the 7.5-year cycles. Targeted health policies are needed to mitigate the impact of these factors, supporting surveillance, early diagnosis, and preventive strategies for T1DM.

Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia, stemming from the defective migration of GnRH and olfactory neurons during embryogenesis. This study investigated a multigenerational family with KS, identifying novel mutations in the ANOS1 (c.78_108del, X-linked) and GNRHR (c.974del, autosomal recessive) genes through genetic testing. Affected males carrying the ANOS1 mutations displayed a range of phenotypes, all of which were associated with hypogonadism and varying degrees of anosmia. Furthermore, isolated mutations in the GNRHR gene were linked to milder forms of hypogonadism. Individuals possessing mutations in both genes exhibited more severe phenotypes, suggesting a digenic mode of inheritance. These findings broaden the known mutational landscape of KS, illustrating how variations and combinations of mutations in multiple genes can lead to diverse symptoms and levels of severity within the same disorder. By integrating clinical and genetic data, this research enhances understanding of the intricate mechanisms underlying KS, highlighting the value of next-generation sequencing in revealing oligogenic contributions to endocrine disorders for improved diagnostics, management, and genetic counseling.

Objective: To identify maternal and neonatal outcomes in pregnancies with early versus late gestational diabetes mellitus (GDM) diagnosis, considering healthcare access in a low- to middle-income area of Brazil.

Subjects and methods: This retrospective study included women diagnosed with either early GDM (diagnosed before 20 weeks, based on fasting plasma glucose) or late GDM (diagnosed by 24-28 weeks, via oral glucose tolerance test), according to the IADPSG criteria, who received prenatal care at a hospital in southern Brazil. Maternal outcomes included gestational hypertension, pre-eclampsia, cesarean section or instrumented vaginal delivery, and need for intensive care after birth. Perinatal outcomes were assessed based on the adequacy of birth timing and weight for gestational age, the need for neonatal intensive care, shoulder dystocia or fractures, neonatal hypoglycemia and mortality. Logistic regression was used to adjust for possible confounders, with results presented as odds ratios (OR) and 95% confidence intervals (CI).

Results: A total of 320 women with GDM (mean age 32.9 ± 6.5 years) were included: 164 (51.2%) with early GDM and 156 (48.8%) with late GDM. The primary composite maternal outcome was more frequent in late GDM (43.6% versus 29.3%; OR 1.87; 95% CI 1.15-3.03), as well as perineal laceration (OR 2.45; 95% CI 1.22-4.84). No significant differences were found between groups in the primary composite neonatal outcome, prematurity, or macrosomia rates.

Conclusion: In this low-income population in southern Brazil, early GDM diagnosis led to more prenatal consultations and pharmacological treatment, which may have contributed to reduced adverse maternal outcomes.

Immune checkpoint inhibitors have become transformative therapies, significantly enhancing survival outcomes for various neoplasms. However, they often trigger immune-related adverse events, including endocrinopathies. Cushing's syndrome, characterized by exposure to elevated levels of circulating cortisol, presents a wide range of clinical features and is closely associated with increased morbidity and mortality. This article reports on a case of a patient under checkpoint inhibitor therapy, who developed cyclic adrenocorticotropic hormone-dependent hypercortisolism. The patient exhibited a Cushingoid phenotype, and testing revealed increased cortisol levels following the administration of 1 mg of dexamethasone, indicating endogenous hypercortisolism. Notably, the cortisol levels followed a cyclic pattern, decreasing as the next dose of pembrolizumab neared, thereby linking the hypercortisolism to fluctuations in the medication's serum concentration. Given the significant morbidity linked to hypercortisolism, it is crucial for physicians prescribing immune checkpoint inhibitors to recognize the potential onset of endocrinopathies with unconventional presentations, such as cyclic hypercortisolism. Such conditions may present diagnostic and therapeutic challenges, ultimately impacting patient survival.

Objective: Metabolic dysfunction-associated steatotic liver disease (MASLD), a worldwide public health challenge with a prevalence of around 25%, is strongly related to obesity and insulin resistance. The present study investigated the possible association between MASLD and the leptin gene (LEP) -2548G>A (rs7799039) polymorphism.

Subjects and methods: A total of 250 subjects (125 biopsy-proven MASLD patients and 125 controls) were genotyped for the -2548G>A promoter variant using the PCR-RFLP technique.

Results: There was no deviation from Hardy-Weinberg equilibrium for LEP -2548G>A polymorphism in both groups (P > 0.05). A significant association between this gene variant and MASLD was found. The LEP -2548G>A "GG" genotype compared with ''AA+AG'' genotype was underrepresented in the MASLD patients than controls, even after adjustment for confounding factors (P = 0.016; OR = 0.42, 95% CI = 0.40-0.83).

Conclusion: For the first time, our findings demonstrated that the "GG" genotype of LEP -2548G>A gene variant can be a potential protective factor for MASLD. Further studies in other populations, however, are required to support this finding.

Objective: Obesity prevalence is increasing in Brazil. Real-world observational data were used to understand clinical weight management practice, and the economic and health-related quality-of-life (HRQoL) impact of obesity.

Materials and methods: Data were derived from the Adelphi Real World Obesity Disease Specific Programme (DSP)™, a cross-sectional survey of people with obesity (PwO) and treating physicians, conducted in Brazil May-October 2022. Physicians reported demographic/clinical characteristics and current/previous weight management. PwO reported emotional/financial impact of obesity, and completed patient-reported outcomes on HRQoL, and activity/work impairment.

Results: In total, 99 physicians reported on 895 PwO. Mean ± SD PwO age was 43.1 ± 13.7, majority were female (60.9%) and white (71.7%). Mean ± SD BMI at survey was 33.8 ± 9.4 with 40.5%, 23.2% and 11.1% of PwO having class 1, 2 or 3 obesity. Weight management was most commonly at PwO request (43.4%), and consisted of prescription weight loss drug (53.6%), and dietician or physician-supervised diets (79.9% and 55.1%). Most PwO reported financial impact due to obesity treatment and reported being bothered/embarrassed by their weight. SF-36v2 physical summary scores ranged from 52.4 ± 9.3 to 45.6 ± 8.6 and mental summary scores from 45.5 ± 9.3 to 42.2 ± 12.3 (BMI < 30 to class 3 obesity). Overall work and activity impairment ranged from 20.0 ± 22.7 to 42.4 ± 28.4 (BMI < 30 and class 2 obesity) and from 24.7 ± 25.2 to 43.2 ± 32.5 (BMI < 30 to class 3 obesity), and 3.2% did not work due to obesity.

Conclusion: PwO have a substantial impact on work, and financial, emotional and quality-of-life burden. Our data highlight the need for more efficacious obesity management, to help reduce work and activity impairment, improve quality of life.

Objective: Transgender and gender-diverse (TGD) refers to people whose gender identity does not correspond to the sex assigned to them at birth. This study evaluated the knowledge of medical residents at a tertiary hospital in northeastern Brazil regarding healthcare for the TGD population.

Materials and methods: This cross-sectional, single-center observational study surveyed medical residents at a tertiary hospital in northeastern Brazil in 2023. It utilized a self-developed online questionnaire, which residents completed voluntarily and anonymously. Descriptive statistics, chi-square analyses, and multivariate logistic regression were applied to the data.

Results: A total of 107 residents completed the questionnaire (40.83% of the eligible cohort); most were clinicians (69.15%). All participants identified as cisgender. Nearly all participants considered it important to understand healthcare for TGD patients. About half reported prior education on the topic; gynecology, obstetrics, and endocrinology residents (specialists) demonstrated the highest rates (p = 0.0009). Approximately 40% of the participants were unaware of where to refer TGD people for specialized care in hormone therapy and gender-affirming surgeries (p = 0.007). Lack of experience (p = 0.002) was the primary reason among the 30 residents who felt insecure about providing healthcare to TGD patients.

Conclusion: Residents acknowledge the importance of this field in their practice but demonstrate a lack of specific knowledge and prior education.

VitaminD deficiency is a global concern, and calcifediol serves as an alternative to cholecalciferol for achieving and maintaining optimal vitamin D levels, despite the lack of international guidelines for calcifediol supplementation regimens. We present a case involving a 58-year-old patient with osteoporosis and a medical history of type 2 diabetes, obesity, and cirrhosis. Standard treatment with calcium, cholecalciferol, and bisphosphonate was initiated; however, supplementation failed to achieve the target vitamin D levels during follow-up. Subsequently, calcifediol was introduced at a dose of 10 mcg daily, which was increased to 20 mcg daily after one month. Nonetheless, the vitamin D serum concentration rose to 80 ng/mL by the third month, prompting discontinuation of the drug and levels gradually decreased to 28 ng/mL over 2.5 months. Upon the administration of calcifediol at 10 mcg three times a week, serum levels stabilized at 35 ng/mL. Calcifediol offers several advantages over cholecalciferol, including better intestinal absorption, bypassing the need for hepatic hydroxylation, and a more rapid increase in 25-hydroxyvitamin D (25[OH]D) levels. Current guidelines recommend considering calcifediol in cases of obesity, malabsorption syndromes, and chronic hepatic diseases, although optimal dosages remain uncertain. Based on the commercially available tablet in Brazil, we suggest initiating calcifediol at 10 mcg per day and adjusting the dose according to 25(OH)D levels.

Objective: Long non-coding RNAs (lncRNAs) do not encode proteins and are transcripts longer than 200 nucleotides. The precise involvement of lncRNAs in type 1 diabetes mellitus (T1DM) pathogenesis remains unclear. Therefore, this study aimed to analyze the expressions of five lncRNAs in peripheral blood mononuclear cells of individuals with T1DM and without DM.

Materials and methods: This study comprised 27 patients with T1DM (cases) and 13 individuals without DM (controls). The case group was divided into two subgroups based on T1DM duration: < 5 years of diagnosis group and long-term diabetes group (≥5 years). LncRNA expression was evaluated by qPCR.

Results: MALAT1 and TUG1 were upregulated in patients within the first five years of diagnosis of T1DM compared to the other groups. MEG3 was upregulated in the case group of < 5 years of diagnosis compared to controls. TUG1 and MALAT1 levels were negatively correlated with the duration of T1DM, while TUG1 and MEG3 were positively correlated with glycated hemoglobin levels. Bioinformatics analysis revealed that MALAT1, MEG3, and TUG1 regulate and interact with protein-codifying genes and microRNAs involved in T1DM-related pathways.

Conclusion: Our study revealed MALAT1, MEG3, and TUG1 upregulation in patients within the first five years of diagnosis of T1DM.