Assessment of Cardiometabolic Risk Factors and Insulin Sensitivity by Hyperinsulinemic-Euglycemic Clamp in Resistance to Thyroid Hormone β Syndrome.

Resistance to thyroid hormone beta (RTHβ) is a rare disease resulting from mutations in the gene, characterized by reduced T3 action in tissues with high thyroid hormone receptor β expression. Thyroid hormones regulate body composition and metabolism in general, and increased or decreased hormone levels are associated with insulin resistance. This study evaluated the presence of cardiometabolic risk factors and insulin sensitivity in patients with RTHβ.

Impact of lead exposure on the thyroid glands of individuals living in high- or low-lead exposure areas.

Ecuador was an endemic area for iodine deficiency; however, due to the population consumption of iodized table salt, the country is nowadays considered iodine sufficient. Despite the population consumption of iodized salt for more than 50 years, the prevalence of hypothyroidism has increased in recent years. A similar increment has been reported for thyroid cancer (TC) becoming the second most common cancer in women and seventh most common cancer in men.

Choosing Wisely for Thyroid Conditions: Recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.

Objective: Choosing Wisely (CW) is an initiative that aims to advance the dialogue between physicians and patients about low-value health interventions. Given that thyroid conditions are frequent in clinical practice, we aimed to develop an evidence-based list of thyroid CW recommendations.

Methods: The Thyroid Department of the Brazilian Society of Endocrinology and Metabolism (SBEM) named a Task Force to conduct the initiative.

The first five-year evaluation of cystic fibrosis neonatal screening program in São Paulo State, Brazil.

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil.

Evaluation of thyroid nodules in the Brazilian Public Health Care System, Supplementary Health System, and Private Health System in the northeastern region of the State of São Paulo.

Objective: To obtain data about the evaluation of thyroid nodules (TNs) in the northeastern of the State of São Paulo, compared by health care type, and measure the performance of cytology as a screening test for thyroid cancer (TC).

Methods: We collected data of 597 patients treated in the Brazilian public health care system (SUS), supplementary health (SH) and in private health system (PHS) in 2014. A total of 803 TNs were aspirated, and 125 patients underwent surgery.

Preoperative detection of TERT promoter and BRAFV600E mutations in papillary thyroid carcinoma in high-risk thyroid nodules.

Objectives: This observational study analyzed telomerase reverse transcriptase (pTERT) mutations in 45 fine-needle aspiration (FNA) specimens obtained from thyroid nodules followed by postoperatively confirmation of papillary thyroid cancer (PTC) diagnosis, examining their relationship with clinicopathologic aspects and the BRAFV600E mutation.

Subjects And Methods: Clinical information was collected from patients who presented to Ribeirao Preto University Hospital for surgical consultation regarding a thyroid nodule and who underwent molecular testing between January 2010 to October 2012. Tests included a DNA-based somatic detection of BRAFV600E and pTERT mutations.

Assessment of thyroid function, ioduria and oxidative stress in women in the first trimester of pregnancy.

Introduction: adequate iodine intake during pregnancy is essential for the synthesis of thyroid hormones, which are important for the physiological functions of the mother and appropriate maturation of the central nervous system of the fetus.

Objective: the objective of the present study was to determine the levels of urinary iodine excretion and thyroid function, antioxidants and oxidative stress markers in pregnant women.

Methods: the study was conducted on 191 pregnant women and 62 non-pregnant women who were evaluated regarding nutritional status.

Effects of drying and storage conditions on the stability of TSH in blood spots.

Objective: To evaluate the influence of sample drying and storage temperature on TSH stability in neonatal screening.

Subjects And Methods: Blood samples from 29 adult volunteers as a surrogate for neonatal blood (10 with normal TSH, 9 with overt hypothyroid and 10 with subclinical hypothyroidism) were spotted on filter paper and dried at 22°C or 35°C for 3 hours. The samples were then stored at 22°C, -4°C, or -20°C, and TSH measurements were performed at day 0 (D0), D7, D30, D60, D180, and D360 of storage.

Medullary thyroid carcinoma - Adverse events during systemic treatment: risk-benefit ratio.

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from parafollicular C cells of the thyroid and associated with mutations in the proto-oncogene REarranged during Transfection (RET). The prognosis of MTC depends on clinical stage, with a 95.6% 10-year survival rate among patients with localized disease and 40% among patients with advanced disease.

Iodine insufficiency in pregnant women from the State of São Paulo.

Objective: The intake of adequate amounts of iodine during pregnancy is essential for the neurological development of the fetus. The aim of this study was to assess iodine nutrition status in pregnant women from the state of São Paulo, Brazil.

Material And Methods: We analyzed urinary iodine concentration (UIC) in 191 pregnant and 58 non-pregnant women matched by age.

HLA-G is differentially expressed in thyroid tissues.

Background: HLA-G is a nonclassical major histocompatibility complex molecule that has well-recognized immunomodulatory properties. The expression of HLA-G in tumor cells has been considered to be detrimental, permitting tumor spreading and decreased survival. We evaluated the expression of HLA-G in histologically normal thyroid tissue, goiter, and benign and malignant thyroid tumors, and studied the relationship between HLA-G expression and patient clinical variables.

Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism.

Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, with an incidence of 1:2,000 to 1:4,000 live births and it is a leading preventable mental retardation. Neonatal Screening Programs allow early identification of the disease and the adequate treatment of affected children can avoid the complications related to deprivation of the hormone. Most cases of primary congenital hypothyroidism (85%) are due to thyroid dysgenesis (ectopia, hypoplasia or agenesis) while the remaining result from defects in hormone synthesis.

Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.

Background: Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life.

Summary: A 5-year-old girl was referred for prophylactic thyroidectomy as she carried the p.C634R RET mutation.

Thyroid hormone resistance detected by routine neonatal screening.

We report the clinical and laboratory findings, and molecular analysis of a Brazilian patient with resistance to thyroid hormone syndrome (RTH) detected by neonatal screening. The index case was born at term by normal delivery with 2,920 g and 45 cm. TSH of the neonatal screening test performed on the 5(th) day of life was of 13.

[Neonatal screening program at the university hospital of the Ribeirão Preto School of Medicine, São Paulo University, Brazil].

The Neonatal Screening Program at the University Hospital of the Ribeirão Preto School of Medicine, São Paulo University, Brazil, was introduced in 1994. As of December 2005, congenital hypothyroidism had been diagnosed in 76 infants, phenylketonuria in 10, and hemoglobinopathies in 25, representing incidence rates of 1:2,595, 1:19,409, and 1:4,120, respectively. A total of 2,747 newborns had the sickle cell trait, i.

E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Objective: To report the clinical and molecular aspects of a patient with a diagnosis of Resistance to Thyroid Hormone (RTH) harboring the E449X mutation associated with autoimmune thyroid disease and severe neuropsychomotor retardation.

Methods: We present a case report including clinical and laboratory findings, and molecular analysis of a Brazilian patient with RTH.

Results: A 23-year old male presented hyperactivity disorder, attention deficit, delayed neuropsychomotor development, and goiter.

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.

Objective: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of reduced tissue responsiveness to thyroid hormone usually due to mutations located in the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor beta (TRbeta). In the present report we describe the clinical and laboratory characteristics and the genetic analysis of patients with this rare disorder from a Brazilian population.

Patients: Four unrelated Brazilian families with diagnosis of RTH were studied.