RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12 anos depois e detectou uma mutação recorrente (c.373delT) no gene TSHB. Os pais e a irmã eram portadores do alelo mutante. Comentários: A mutação c.373delT já foi relatada em pacientes do Brasil, da Alemanha, da Bélgica, dos Estados Uinidos, da Suíça, da Argentina, da França, de Portugal, do Reino Unido e da Irlanda. Em resumo, nosso caso e outros relatados na literatura reforçam a teoria de que essa mutação pode ser uma causa comum de deficiência isolada de TSH. A deficiência isolada de TSH não é detectada na triagem neonatal com base na dosagem de TSH, representando um desafio clínico. Portanto, quando possível, o estudo genético molecular é indicado. A identificação dos afetados e dos portadores permite o diagnóstico, o tratamento e o aconselhamento genético adequado.

ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.

ABSTRACT Objectives To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. Subjects and methods Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-thyroxine; 16 had previously undergone scintigraphy and 30 had previous T-US, which were compared to current ones. Results At the current T-US, the thyroid gland was not visualized in its normal topography in 10 patients (24.5%); 31 T-US showed topic thyroid, 17 with normal or increased volume due to probable dyshormonogenesis, 13 cases of hypoplasia and one case of left-lobe hemiagenesis. One patient had decreased volume due to central hypothyroidism. Scintigraphy scans performed 3-4 years earlier showed 100% agreement with current results. Comparisons with previous T-US showed concordant results regarding thyroid location, but a decrease in current volume was observed in eight due to the use of L-thyroxine, calling the diagnosis of hypoplasia into question. Conclusions The role of T-US goes beyond complementing scintigraphy results. It allows inferring the etiology of CH, but it must be performed in the first months of life. An accurate diagnosis of CH will be attained with molecular study and the T-US can guide this early assessment, without therapy withdrawal.

OBJECTIVE: To evaluate the effectiveness of the treatment of acromegaly patients at the Federal University of Triangulo Mineiro. METHODS: Cross-sectional and retrospective study of thirty cases treated over a period of two decades. RESULTS: 17 men (56.7%) aged 14-67 years and 13 women aged 14-86 years were analyzed. Twenty-one patients underwent transphenoidal surgery, whichwas associated with somatostatin receptor ligands in 11 patients (39.3%), somatostatin receptor ligands + radiotherapyin 5 patients (17.8%), radiotherapy in 3 patients (10.7%), and radiotherapy + somatostatin receptorligands + cabergoline in 1 patient (3.6%). Additionally, 2 patients underwent radiotherapy and surgeryalone. Six patients received somatostatin receptor ligands before surgery, and 2 were not treated due to refusal and death. Nine patients have died, and 20 are being followed; 13 (65%) have growth hormonelevels o1 ng/mL, and 11 have normal insulin-like growth factor 1 levels. CONCLUSION: The current treatment options enable patients seen in regional reference centers to achieve strict control parameters, which allows them to be treated close to their homes.

The aim of this research was to identify the knowledge of people with Diabetes Mellitus in relation to foot care, correlating the study time with the number of concordants responses, as well as, the time of diagnosis with the presence of chronic complications. It is analytical, exploratory and cross-sectional study, carried out with about 41 individuals with diabetes who attended an outpatient clinic of a city in Triangulo Mineiro. The results showed a deficit in knowledge about the feet care of this population, since the average score was 10.0 in the total of 15 questions. Education was not correlated with the level of knowledge of the practice. There was an association between the time of diagnosis and the presence of complications, where 70.0% of the sample had diabetes with complications for a period > 10 years. Therefore, educational efforts to provide access to knowledge about foot care are essential to preventing this sickness.

O objetivo desta pesquisa foi identificar o conhecimento de pessoas com Diabetes Mellitus em relação aos cuidados com os pés, correlacionando o tempo de estudo com o número de respostas concordantes, bem como o tempo de diagnóstico com a presença de complicações crônicas. Trata-se de estudo analítico, exploratório e transversal, realizado com 41 indivíduos, portadores de diabetes, atendidos em um ambulatório especializado de uma cidade do Triângulo Mineiro. Os resultados mostraram déficit no conhecimento desta população sobre os cuidados podais, já que a média de acertos foi de 10,0 perante o total de 15 questões. A escolaridade não apresentou correlação com o nível de conhecimento acerca desta prática. Houve associação entre o tempo de diagnóstico e a presença de complicações, onde 70,0% da amostra com complicações tinham diabetes por período > 10 anos. Portanto, ações educativas que viabilizem o acesso ao conhecimento sobre os cuidados com os pés são essenciais para a prevenção do pé diabético.

El objetivo de esta investigación fue identificar el conocimiento de las personas con diabetes mellitus en relación con el cuidado de los pies, la correlación de tiempo de estudio con el número de respuestas concordantes, así como el momento del diagnóstico de la presencia de complicaciones crónicas. Es un estudio analítico, exploratorio y transversal realizado con 41 individuos con diabetes de una clínica de la ciudad de Triangulo Mineiro. Los resultados mostraron un déficit en el conocimiento de esta población sobre el cuidado de los pies, ya que la puntuación media fue de 10,0 del total de 15 preguntas. La educación no presentó correlación con el nivel de conocimiento de la práctica. Se observó una asociación entre el tiempo del diagnóstico y la presencia de complicaciones, donde el 70,0% de la muestra tenía diabetes con complicaciones para un período > 10 años. Por lo tanto, los esfuerzos educativos para facilitar el acceso a los conocimientos sobre el cuidado de los pies son esenciales para la prevención del pie diabético.

OBJETIVO: O objetivo deste estudo foi determinar a incidência e etiologia do hipotireoidismo congênito (HC) em Uberaba, MG. PACIENTES E MÉTODOS: Mediante revisão dos prontuários de pacientes atendidos no ambulatório de referência do serviço público, no período de 2001 a 2010. RESULTADOS: A cobertura do programa foi de 88%, sendo diagnosticadas 16 crianças com HC, com incidência de 1:2.017 nascidos vivos investigados. A avaliação etiológica foi realizada em 15 crianças, sendo diagnosticados sete casos de disgenesia tireoidiana, sete casos de disormonogênese e um caso de hipotireoidismo transitório. Uma criança não foi investigada devido à mudança de residência para outro estado. CONCLUSÕES: Concluímos que a incidência do HC é maior nesta região, assim como a disormonogênese como principal causa, sendo necessários estudos moleculares para melhor definição etiológica.

OBJECTIVE: The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG. SUBJECTS AND METHODS: From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children. RESULTS: CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out. CONCLUSION: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.