Léa Maria Zanini Maciel

Nódulos de tireóide e câncer diferenciado de tireóide: consenso brasileiro

Thyroid nodules are a common manifestation of thyroid diseases. It is estimated that ~10% of adults have palpable thyroid nodules with the frequency increasing throughout life. The major concern on nodule evaluation is the risk of malignancy (5‐10%). Differentiated thyroid carcinoma accounts for 90% of all thyroid malignant neoplasias. Although most patients with cancer have a favorable outcome, some individuals present an aggressive form of the disease and poor prognostic despite recent advances in diagnosis and treatment. Here, a set of clinical guidelines for the evaluation and management of patients with thyroid nodules or differentiated thyroid cancer was developed through consensus by 8 member of the Department of Thyroid, Sociedade Brasileira de Endocrinologia e Metabologia. The participants are from different reference medical centers within Brazil, to reflect different practice patterns. Each committee participant was initially assigned to write a section of the document and to submit it to the chairperson, who revised and assembled the sections into a complete draft document, which was then circulated among all committee members for further revision. All committee members further revised and refined the document. The guidelines were developed based on the expert opinion of the committee participants, as well as on previously published information. (Arq Bras Endocrinol Metab 2007;51/5:867-893)Thyroid nodules are a common manifestation of thyroid diseases. It is estimated that approximately 10% of adults have palpable thyroid nodules with the frequency increasing throughout life. The major concern on nodule evaluation is the risk of malignancy (5-10%). Differentiated thyroid carcinoma accounts for 90% of all thyroid malignant neoplasias. Although most patients with cancer have a favorable outcome, some individuals present an aggressive form of the disease and poor prognostic despite recent advances in diagnosis and treatment. Here, a set of clinical guidelines for the evaluation and management of patients with thyroid nodules or differentiated thyroid cancer was developed through consensus by 8 member of the Department of Thyroid, Sociedade Brasileira de Endocrinologia e Metabologia. The participants are from different reference medical centers within Brazil, to reflect different practice patterns. Each committee participant was initially assigned to write a section of the document and to submit it to the chairperson, who revised and assembled the sections into a complete draft document, which was then circulated among all committee members for further revision. All committee members further revised and refined the document. The guidelines were developed based on the expert opinion of the committee participants, as well as on previously published information.

Programa de Triagem Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil

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.e., were heterozygous for the sickle mutation (1:37.5 live births). The programs mean coverage during this period was 94.5%. There was major improvement in the parameters for evaluating the programs quality, although they were still far from ideal. Public-awareness campaigns on the importance of neonatal screening are needed to increase the programs coverage. Setting postnatal day 3 as the standard Day for the Heel Stick Test would help ensure treatment at earlier ages, thus improving prognosis for affected infants.O Programa de Triagem Neonatal do Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Brasil, instituido em 1994 diagnosticou, ate 2005, 76 criancas com hipotireoidismo congenito, 10 com fenilcetonuria e 25 com hemoglobinopatias, o que representou uma incidencia de 1:2.595, 1:19.409, 1:4.120, respectivamente. Foram diagnosticadas 2.747 criancas com traco falciforme (1:37,5 nascidos vivos). A cobertura media do programa foi de 94,5%. Houve uma consideravel melhora nos parâmetros de avaliacao da qualidade do programa no periodo, porem, sem atingir os indices ideais. Campanhas visando a maior divulgacao da importância da triagem neonatal sao necessarias para aumentar a cobertura e a instituicao do 3o dia de vida do recem-nascido como sendo o Dia do Teste do Pezinho poderia contribuir para que idades mais precoces de tratamento fossem atingidas, melhorando o prognostico das criancas acometidas.

Racial influence on the prevalence of prostate carcinoma in Brazilian volunteers

PURPOSE To investigate the prevalence of prostate carcinoma in a sample of volunteers known to have a large proportion of Bantu African ancestors, and the performance of total PSA (tPSA), PSA density (PSAD) and free-to-total PSA ratio (f/tPSA) on the diagnosis. MATERIALS AND METHODS A total of 473 volunteers (range: 40 - 79 years) were screened for prostate carcinoma. Those with tPSA >2 ng/ml and/or abnormal digital rectal examination were submitted to a transrectal ultrasound-directed biopsy (10 cores). The volunteers were classified as White, Mulatto or Black according to physical characteristics and to ancestors race reference. The following variable number of tandem repeats (VNTR) were analyzed in the blood of 120 volunteers without cancer and in 27 patients with prostate cancer: D4S43, PAH, F13A1, APOB and vW-1. RESULTS The biopsies performed in 121 volunteers revealed cancer in 27 (5.7% of 473). The proportions of cancer in White, Mulatto and Black were respectively: 0.6% (1/148), 6.7% (6/90) and 8.5% (20/235) (p = 0.006). The VNTRs analysis revealed heterogeneity in White, Mulatto and Black anthropologic phenotypes with the following admixture of Caucasian, African and Amerindian gene lineages: 67.5 +/- 8%, 20.8 +/- 8%, 11.7 +/- 7%; 54.8 +/- 9%, 36.3 +/- 5%, 8.9 +/- 7%; and, 45.3 +/- 3%, 45.9 +/- 4%, 8.8 +/-7%. Such a mixture was 50.5 +/- 9%, 49 +/- 8% and 0.5 +/- 4% in volunteers bearing cancer, and 59.1 +/- 7%, 31.7 +/- 8% and 9.2 +/- 5% in those without cancer. The sensitivity and specificity of tPSA at cut-off levels of 2, 2.5 and 4 ng/ml for volunteers with tPSA </= 10 ng/ml were respectively: 100% and 6,6%, 100% and 36,6%, 69,2% and 62,2%. PSAD at a cut-off level of 0.08 or 0.10, and f/tPSA at a cut-off level of 20% were able to increase significantly tPSA specificity without loss on sensitivity. CONCLUSIONS The tumor prevalence was higher in Non-White than in White phenotype. The association of tPSA at a cut-off level of 2.5 ng/ml with a PSAD of 0.08 or a f/tPSA of 20% for biopsy indication deserves further investigations as an alternative to tPSA cut-off level of 4 ng/ml.

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. We used the World Health Organization criteria to define sufficient iodine supply (median UIC: 150-249 µg/L among pregnant women, and 100-199 µg/L for non-pregnant women). RESULTS Median UIC of the pregnant women studied was lower than the recommended value (median = 137.7 µg/L, 95% CI = 132.9 - 155.9), while non-pregnant women had UIC levels within the appropriate range (median = 190 μg/L; 95% IC = 159.3-200.1). UIC was below 150 µg/L in 57% of the pregnant women. CONCLUSIONS Although a larger sample is needed to consolidate these findings, these results raise concerns about the adequacy of the iodine supply of pregnant women in Brazil, especially considering the new determinations of the Brazilian government, which have recently reduced the concentrations of iodine in table salt to 15-45 mg/kg of salt.

Diagnóstico, tratamento e seguimento do carcinoma medular de tireoide: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

INTRODUCTION Medullary thyroid carcinoma (MTC) originates in the thyroid parafollicular cells and represents 3-4% of the malignant neoplasms that affect this gland. Approximately 25% of these cases are hereditary due to activating mutations in the REarranged during Transfection (RET) proto-oncogene. The course of MTC is indolent, and survival rates depend on the tumor stage at diagnosis. The present article describes clinical evidence-based guidelines for the diagnosis, treatment, and follow-up of MTC. OBJECTIVE The aim of the consensus described herein, which was elaborated by Brazilian experts and sponsored by the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism, was to discuss the diagnosis, treatment, and follow-up of individuals with MTC in accordance with the latest evidence reported in the literature. MATERIALS AND METHODS After clinical questions were elaborated, the available literature was initially surveyed for evidence in the MedLine-PubMed database, followed by the Embase and Scientific Electronic Library Online/Latin American and Caribbean Health Science Literature (SciELO/Lilacs) databases. The strength of evidence was assessed according to the Oxford classification of evidence levels, which is based on study design, and the best evidence available for each question was selected. RESULTS Eleven questions corresponded to MTC diagnosis, 8 corresponded to its surgical treatment, and 13 corresponded to follow-up, for a total of 32 recommendations. The present article discusses the clinical and molecular diagnosis, initial surgical treatment, and postoperative management of MTC, as well as the therapeutic options for metastatic disease. CONCLUSIONS MTC should be suspected in individuals who present with thyroid nodules and family histories of MTC, associations with pheochromocytoma and hyperparathyroidism, and/or typical phenotypic characteristics such as ganglioneuromatosis and Marfanoid habitus. Fine-needle nodule aspiration, serum calcitonin measurements, and anatomical-pathological examinations are useful for diagnostic confirmation. Surgery represents the only curative therapeutic strategy. The therapeutic options for metastatic disease remain limited and are restricted to disease control. Judicious postoperative assessments that focus on the identification of residual or recurrent disease are of paramount importance when defining the follow-up and later therapeutic management strategies.

Radiological reports: a comparison between the transmission efficiency of information in free text and in structured reports

INTRODUCTION: This work proposes to improve the transmission of information between requiring physicians and radiologists. OBJECTIVES: Evaluate the implementation of a structured report (SR) in a university hospital. METHODS: A model of a structured report for thyroid sonography was developed according to information gathered from radiologists and endocrinologists working in this field. The report was based on a web platform and installed as a part of a Radiological Information System (RIS) and a Hospital Information System (HIS). The time for the report generation under the two forms was evaluated over a four-month period, two months for each method. After this period, radiologists and requiring physicians were questioned about the two methods of reporting. RESULTS: For free text, 98 sonograms were reported to have thyroids with nodules in an average time of 8.71 (+/−4.11) minutes, and 59 sonograms of thyroids without nodules were reported in an average time of 4.54 (+/− 3.97) minutes. For SR, 73 sonograms in an average time of 6.08 (+/−3.8) minutes for thyroids with nodules and 3.67 (+/−2.51) minutes for thyroids without nodules. Most of the radiologists (76.2%) preferred the SR, as originally created or with suggested changes. Among endocrinologists, 80% preferred the SR. DISCUSSION: From the requiring physicians’ perspective, the SR enabled standardization and improved information transmission. This information is valuable because physicians need reports prepared by radiologists. CONCLUSIONS: The implementation of a SR in a university hospital, under an RIS/HIS system, was viable. Radiologists and endocrinologists preferred the SR when compared to free text, and both agreed that the former improved the transmission of information.

How frequently should a patient taking amiodarone be screened for thyroid dysfunction

Amiodarone-induced thyroid dysfunction (AITD) is a common complication of amiodarone therapy and its prevalence varies according to iodine intake, subclinical thyroid disorders and the definition of AITD. There is no consensus about the frequency of screening for this condition. We evaluated 121 patients on chronic regular intake of amiodarone (mean intake = 248.5 +/- 89 mg; duration of treatment = 5.3 +/- 3.9 years, range = 0.57-17 years) and with stable baseline cardiac condition. Those with no AITD were followed up for a median period of 3.2 years (range: 0.6-6.7) and the incidence rate of AITD, defined by clinical and laboratorial findings as proposed by international guidelines, was obtained (62.8 per 1000 patients/year). We applied the Cox proportional hazard model to adjust for potential confounding factors and used sensitivity analysis to identify the best screening time for follow-up. We detected thyroid dysfunction in 59 (48.7%) of the 121 patients, amiodarone-induced hypothyroidism in 50 (41.3%) and hyperthyroidism in 9 (7.5%). Compared with patients without AITD, there was no difference regarding dosage or duration of therapy, heart rhythm disorder or baseline cardiac condition. During the follow-up of the 62 patients without AITD at baseline evaluation, 11 developed AITD (interquartile range, IR: 62.8 (95%CI: 31.3-112.3) cases per 1000 patients/year), 9 of them with hypothyroidism - IR: 11.4 (95%CI: 1.38-41.2), and 2 hyperthyroidism - IR: 51.3 (95%CI: 23.4-97.5). Age, gender, dose, and duration of treatment were not significant after adjustment. During the first 6 months of follow-up the incidence rate for AITD was 39.3 (9.2-61.9) cases per 1000 patients/year. These data show that AITD is quite common, and support the need for screening at 6-month intervals, unless clinical follow-up dictates otherwise or further information regarding the prognosis of untreated subclinical AITD is available.

Hipotireoidismo congênito: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

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. Affected children (> 95%) usually have no symptoms suggesting the disease at birth. The most frequent symptoms and signs are prolonged neonatal jaundice, hoarse cry, lethargy, slow movements, constipation, macroglossia, umbilical hernia, large fontanelle, hypotonia and dry skin. Around the world, various strategies are used for the screening of the CH. In Brazil, screening for CH is mandatory by law and usually done by serum TSH in dried blood collected from the heel. The recommended age for performing this test is after 48 hours of life until the 4th day. Diagnostic confirmation is required dosing TSH and free T4 or total T4 in serum.

Consenso brasileiro para o diagnóstico e tratamento do hipertireoidismo: recomendações do Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia

Universidade Federal do Rio Grande do Sul (UFRGS) Hospital de Clinicas de Porto Alegre Servico de Endocrinologia

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 β (TRβ). 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.