Aggressive papillary thyroid carcinoma in a child with type 2 congenital generalized lipodystrophy

SUMMARY Thyroid carcinoma (TC) is rare in children, particularly in those aged < 10 years. Several studies have demonstrated a correlation between neoplasms and hyperinsulinemia and insulin resistance, which are often associated with a higher risk for and/or aggressiveness of the neoplasm. Congenital generalized lipodystrophy (CGL) with autosomal recessive inheritance is a rare disease and is characterized by the lack of adipose tissue, severe insulin resistance, and early metabolic disturbances. Here, we reported a rare case of a type 2 CGL in a girl who presented with a papillary TC (PTC) at the age of 7 years. She had no family history of TC or previous exposure to ionizing radiation. She had a generalized lack of subcutaneous fat, including the palmar and plantar regions, muscle hypertrophy, intense acanthosis nigricans, hepatomegaly, hypertriglyceridemia, severe insulin resistance, and hypoleptinemia. A genetic analysis revealed a mutation in the BSCL2 gene (p.Thr109Asnfs* 5). Ultrasound revealed a hypoechoic solid nodule measuring 1.8 × 1.0 × 1.0 cm, and fine needle aspiration biopsy suggested malignancy. Total thyroidectomy was performed, and a histopathological examination confirmed PTC with vascular invasion and parathyroid lymph node metastasis (pT3N1Mx stage). This is the first report to describe a case of differentiated TC in a child with CGL. Severe insulin resistance that is generally observed in patients with CGL early in life, especially in those with type 2 CGL, may be associated with this uncommon presentation of aggressive PTC during childhood.

Insulin autoimmune syndrome in an occidental woman: a case report and literature review

SUMMARY Insulin autoimmune syndrome (IAS, Hirata's disease) is a rare hypoglycemic disorder characterized by spontaneous hypoglycemia associated with extremely high circulating insulin levels and positive anti-insulin antibody results. Thus far, most cases have been reported in Asian countries, notably Japan, with few cases reported in western countries. As a possible cause, it is associated with the use of drugs containing sulfhydryl radicals, such as captopril. This report refers to a 63-year-old female Brazilian patient with a history of postprandial hypoglycemia. After extensive investigation and exclusion of other causes, her hyperinsulinemic hypoglycemia was considered to have likely been induced by captopril. Most cases of IAS are self-limiting. However, dietary management, corticosteroids, plasmapheresis, and rituximab have already been used to treat patients with IAS. In our case, after discontinuation of captopril, an initial decrease in insulin autoantibody levels was observed followed by improvement in episodes of hypoglycemia. Although it is a rare disease, IAS should be considered in the differential diagnosis of endogenous hyperinsulinemic hypoglycemia. Patients with suspected IAS must be screened for autoimmunity-related drugs for insulin. Initial clinical suspicion of IAS can avoid unnecessary costs associated with imaging examinations and/or invasive surgical procedures.

Associação entre polifarmácia e adesão ao tratamento farmacológico em pacientes com diabetes / Association between polypharmacy and the adherence to pharmacological treatment in patients with diabetes

Objetivo: avaliar a ocorrência da polifarmácia e sua associação com a adesão ao tratatamento farmacológico em pacientes com diabetes mellitus tipo 2. Métodos: estudo transversal realizado com 235 portadores de diabetes mellitus tipo 2 por meio de entrevista sobre os dados sociodemográficos e clínicos, a terapêutica medicamentosa prescrita e a adesão ao tratamento. Para análise dos dados foram utilizados os testes t de Student e quiquadrado, com nível de significância p<0,05. Resultados: a polifarmácia foi evidenciada em 88,4% dos casos com predomínio da moderada. Foram utilizados, em média, 7,5 comprimidos por pessoa dentre os 19 tipos de fármacos prescritos. A adesão à terapêutica prescrita foi relatada por 88,2% dos pacientes avaliados e não houve associação com a polifarmácia (p=0,266). Conclusão: foi verificado que a polifarmácia é uma condição de elevada prevalência e não está associada a pior adesão à terapêutica. (AU)

Effect of treatment with sitagliptin on somatosensory-evoked potentials and metabolic control in patients with type 2 diabetes mellitus / Efeito do tratamento com sitagliptina sobre os potenciais evocados somatossensoriais e controle metabólico de pacientes com diabetes melito tipo 2

Objective: To evaluate the effect of sitagliptin on somatosensory-evoked potentials (SEPs) and metabolic control in patients with type 2 diabetes mellitus without clinical diabetic neuropathy. Materials and methods: Interventional, prospective, and open study. Patients with less than six months from the diagnosis were included. Examinations of SEPs and laboratory tests at fasting and after food stimulation were performed before and after three months of treatment with sitagliptin (100 mg/day). Results: There was a reduction in the mean levels of HbA1c (P < 0.0001), fasting glucose (P = 0.001), total cholesterol (P = 0.019), and ALT (P = 0.022). An increase in active GLP-1 was found at the end of the study (P = 0.0025). Several SEPs showed statistically significant differences when analyzed before and after treatment with sitagliptin. Conclusion: The results give a glimpse of the possible use of sitagliptin in the treatment of some neurodegenerative conditions of the peripheral nervous system, in addition to its already established role in glycemic control. .

Objetivo: Avaliar o efeito da sitagliptina nos potenciais evocados somatossensoriais (PESS) e controle metabólico de pacientes com diabetes melito tipo 2, sem neuropatia diabética. Materiais e métodos: Estudo de intervenção, prospectivo e aberto. Os pacientes com menos de seis meses de diagnóstico foram incluídos. Exames dos PESS e testes laboratoriais em jejum e após a estimulação com alimentos foram realizados antes e depois de três meses de tratamento com sitagliptina (100 mg/dia). Resultados: Houve redução nos níveis médios de HbA1c (P < 0,0001), glicemia de jejum (P = 0,001), colesterol total (P = 0,019) e ALT (P = 0,022). Verificou-se aumento de GLP-1 ativo (P = 0,0025). Vários PESS mostraram diferenças estatisticamente significativas quando os valores foram analisados antes e após o tratamento com sitagliptina. Conclusão: Os resultados vislumbram a possível utilização de sitagliptina no tratamento de algumas condições neurodegenerativas do sistema nervoso periférico, em adição ao seu papel no controle glicêmico. .

High prevalence of arterial hypertension in a Brazilian Northeast population of low education and income level, and its association with obesity and metabolic syndrome

OBJECTIVE: The objectives of this study are to estimate the prevalence of arterial hypertension (AH) in an adult population with a predominance of families with low education and income levels, in the hinterlands of Pernambuco, Brazil, and to analyze its association with other factors related to cardiovascular diseases (CVD). METHODS: A cross-sectional study in 2008/2009 was conducted with a sample of 198 subjects stratified by age, and representative of the urban adult population of the Canaã district of city of Triunfo, in the hinterlands of Pernambuco, Brazil. RESULTS: One hundred ninety eight individuals with average age of 57.7 years old (31 to 90 years-old), mainly women (65.6%), and with low income and education levels (81.3% with a monthly income of less than one minimum wage) were evaluated. Among these, 127 (64.1%) were identified as having AH, 54 (42.5%) of whom had no prior diagnosis. From those who were previously diagnosed, only 31.3% had good blood pressure control. Higher prevalence was observed in those individuals with lower incomes, higher body mass indexes (BMI), and those with metabolic syndrome (MS). CONCLUSION: These data demonstrated that there was a high prevalence of AH in the urban, low education and income levels adult population of Triunfo, strongly associated with lower income levels, elevated BMI, and the presence of MS; and a high prevalence of bad blood pressure control among the previously diagnosed cases. These results indicate that more effective interventions for early detection and adequate control of this disease and its comorbidities are necessary.

Perfil microbiológico e desfechos clínicos de úlceras em pés de diabéticos internados / Microbiological profile and clinical outcome of severe foot ulcers of diabetic inpatients

Descrever o perfil microbiológico e os desfechos clínicos de úlceras graves em pés diabéticos de pacientes internados em um hospital universitário de atenção terciária no estado do Ceara, Brasil. Métodos: Conduziu-se uma análise retrospectiva de dados obtidos nos prontuários médicos de todos os pacientes diabéticos internados entre janeiro de 2006 a junho de 2007, nas enfermarias do Serviço de Endocrinologia e Diabetes do Hospital Universitário Walter Cantídio (Universidade Federal do Ceará), por úlceras graves em pés diabéticos, com no mínimo grau 2 da classificação de Wagner, refratárias ao tratamento ambulatorial. Dados clínicos (sexo, idade, tempo de diabetes e co-morbidades) de cada paciente assim como as características microbiológicas do material colhido das suas ulceras em pés ou das suas peças cirúrgicas (amputações) foram obtidos. Resultados: Foram identificados no período 17 diabéticos, todos tipo 2, com idade de 58,11±10,8 anos e 12,4±8,4 anos de doença, 58,8% homens. Das úlceras, 41,1% eram grau 2, 35,2% grau 3, 11,7% grau 4 e 11,7% grau 5 de Wagner, 64,7% com menos de 3 meses de evolução. Realizaram limpeza cirúrgica 82,3% dos pacientes e amputações 47%, sendo identificada osteomielite em 47% dos casos. Antibioticoterapia empírica foi iniciada em todos os pacientes, sendo ciprofloxacina/metronidazol o esquema mais usado (76,5%). Houve cultura negativa em 12,5% das realizadas. Nas positivas, os germes mais freqüentes foram: S. aureus (57,1%); S. viridans (28,7%); P. aeruginosas (28,7%) e M. morganii (28,7%) A maioria (75%) dos S. aureus isolados eram meticilino-resistentes, mas sensíveis à vancomicina. Conclusão: Observouse a presença de flora polimicrobiana com grande número de patógenos multirresistentes e elevada prevalência de osteomielite e amputações em diabeticos portadores de úlceras graves, neuropatia e doença vascular periférica.

To describe the microbiological profile and clinical outcomes of diabetic foot ulcers of inpatients of a tertiary university hospital, at Ceara, Brazil. Methods: We conducted a retrospective analysis of medical charts data of all diabetic inpatients of the Endocrine and Diabetes Unit of Walter Cantídio University Hospital (Federal University of Ceará), admitted from January, 2006 to June, 2007 for severe foot ulcers (minimum of grade 2 of Wagner`s classification), which were refractory to ambulatory treatment. Clinical data from each patient were recorded (sex, age, diabetes duration, and comorbidities) as well as microbiological characteristics of foot ulcers and surgical (amputations) material. Results: We identified 17 diabetic patients, all type 2, aged 58.11 ± 10.8 years and 12.4 ± 8.4 years of disease, 58.8% male. Of ulcers, 41.1% were grade 2; 35.2% grade 3; 11.7% grade 4 and 11.7% grade 5 of Wagner; 64.7% with less than 3 months of evolution. Debridement was performed in 82.3% of patients and amputation in 47%; osteomyelitis was identified in 47% of cases. All patients started empiric antibiotic therapy, where ciprofloxacin/metronidazole was the most used scheme (76.5%). Cultures were negative in 12.5% of the patients. In the positive ones, the most prevalent bacterial pathogens detected in the culture materials were: S. aureus (57.1%); S. viridans (28.7%); P. aeruginosas (28.7%); M. morganii (28.7%). The majority (75%) of isolated S. aureus were methicillin-resistant, but were sensitive to vacomicin. Conclusion: We observed the presence of polymicrobial flora with a large number of multiresistant pathogens and high prevalence of osteomyelitis and amputations in diabetic patients with severe ulcers, neuropathy and peripheral vascular disease.

Tumores testiculares bilaterais por hiperplasia congênita de restos adrenais / Bilateral testicular tumors caused by congenital adrenal rest hyperplasia

OBJETIVOS: Tumores testiculares são uma rara condição associada à hiperplasia adrenal congênita (HAC) que decorrem da hiperplasia de restos adrenais intratesticulares (HRA), raramente ocorrendo associados a neoplasias malignas. Sua diferenciação histológica com tumores de células de Leydig é muito difícil, podendo levar a orquiectomias desnecessárias. O objetivo deste relato foi apresentar esse dilema diagnóstico em um paciente com HAC e tumores testiculares bilaterais. MÉTODOS: Relatou-se o caso de um paciente masculino, 16 anos, com diagnóstico de HAC desde os 3 anos de idade, que apresentava tumorações testiculares endurecidas, indolores e de crescimento lento, sendo encaminhado para orquiectomia bilateral. RESULTADOS: Foi decidido por tratamento conservador com prednisona, havendo significativa diminuição do volume testicular e normalização dos níveis de andrógenos. CONCLUSÃO: Este caso demonstra a importância de sempre se considerar a hipótese de HRA intratesticulares no diagnóstico diferencial dos tumores testiculares. A investigação e a conduta devem ser conduzidas de maneira cautelosa para se evitar orquiectomias desnecessárias.

OBJECTIVES: Testicular tumors are a rare condition associated with congenital adrenal hyperplasia (CAH), originated from intratesticular adrenal rest tumors, and they are rarely associated with malignant tumors. Their histological differentiation from Leydig-cell tumors is quite difficult, which would lead to inappropriate orchiectomies. Thus the objective of this report was to present this diagnostic dilemma. METHODS: Reported the case of 16-yr-old boy with previous diagnosis of CAH with bilateral testicular enlargement who was recommended to be submitted to a bilateral orchiectomy. RESULTS: Considering this findings, it was decided to treat conventionally with prednisone with significant reduction of testicular volume, and normalization of androgens levels. CONCLUSION: This case shows the importance of intratesticular adrenal rest tumors in the differential diagnosis of testicular tumors. Cautious approach during investigation and treatment are recommended to avoid inappropriate orchiectomies.

Avanços diagnósticos e terapêuticos da puberdade precoce em meninas / Advances in the diagnosis and treatment of precocious puberty in girls

A puberdade é considerada precoce em meninas quando aparece antes dos oito anos, incidindo em uma criança para cada 5.000 a 10.000 que têm desenvolvimento normal. Pode ser classificada em central ou periférica. O diagnóstico procura caracterizar a etiologia, evidenciar o estádio da puberdade e definir a melhor terapêutica. No diagnóstico, a dosagem de gonadotrofinas (basais e/ou estimuladas) é o exame de escolha para o início da investigação. No tratamento, há mais de 20 anos são utilizados os análogos de GnRH, principalmente por via intramuscular. As formulações de depósito, aplicadas a cada quatro semanas, são as mais utilizadas. Implantes subcutâneos com análogos de GnRH têm sido considerados promissores. Pacientes com puberdade precoce e reduzida velocidade de crescimento (VC), com o uso dos análogos, têm sido tratadas associando-se o hormônio de crescimento recombinante humano (rhGH), duplicando habitualmente a VC sem acelerar o ritmo de maturação óssea. O uso da metformina em meninas com baixo peso ao nascer e pubarca precoce ou com puberdade iniciada entre oito e nove anos, porém com previsão de menarca precoce e baixa estatura, pode levar à normalização da evolução puberal, ganho de estatura final, além de diminuição do índice de massa corpórea.