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Browsing by Author "Lopes, L"

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  • Amiodarone-Induced Thyrotoxicosis in a Pediatric Patient: A Rare and Demanding Clinical Case
    Publication . Oliveira, S; Marques, B; Laranjo, S; Lopes, L
    Thyroid dysfunction is one of the most common adverse effects of amiodarone therapy, ranging from subclinical changes to overt clinical thyrotoxicosis (AIT) and/or hypothyroidism. Due to its heterogeneity, AIT lasts as a defiant entity, leading to a thorny treatment course, particularly in pediatrics. AIT can be classified as either type 1, type 2 or mixed form based on its pathophysiology. Differentiating between the main AIT subtypes is quite relevant, since there is specific treatment for both, however, this distinction may be difficult in clinical practice. We describe a rare case of AIT in a pediatric patient, with an uncommon congenital cardiac malformation, that started amiodarone therapy due to paroxysmal supraventricular tachycardia. AIT was reported 26 months after drug onset, with a sudden and explosive emerging. This case highlights the current AIT management challenges on the highdemanding pediatric field pursuing, ultimately, an enhanced patient´s care.
    2019-09-24Journal article Open access Show more
  • Atrasos Pubertários. Considerações a Propósito da Casuística de uma Consulta de Endocrinologia Pediátrica
    Publication . Lopes, L; Bragança, G; Pina, R; Fonseca, G; Mota, A
    Os autores fizeram a revisão retrospectiva de 65 processos de jovens enviados à Consulta de Endocrinologia Pediátrica por atraso pubertário durante um período de 10 anos. O diagnóstico foi confirmado em 27 jovens e em 38 a observação e a evolução permitiram demonstrar que aquele não existia. Nos doentes com atraso pubertário, a idade média de referência à consulta foi 14,6 ± 3,3 anos (média ± DP) e o tempo médio de seguimento foi 3,2 ± 3,0 anos. Os doentes com atraso pubertário comprovado dividiram-se por 3 grupos etiológicos: hipogonadismo temporário incluindo o atraso constitucional de maturação e anemias crónicas; situações hipergonadotróficas e hipogonadotróficas permanentes. Analisaram-se as características de cada grupo etiológico. Em 5 casos de hipogonadismo temporário e em 7 de condições permanentes foi feito tratamento; a idade cronológica e a idade óssea médias no início da terapêutica eram 17,4 ± 2,5 anos e 12,9 ± 1,3 anos respectivamente. Os autores concluem, de acordo com literatura recente, pela necessidade de referência e tratamento mais precoce destes doentes.
    1998Journal article Open access Show more
  • A Case of Late-Diagnosed Ovotesticular Disorder of Sex Development
    Publication . Knoblich, M; Pratas Vital, V; Cardoso, D; Alves, F; Catela Mota, F; Lopes, L; Kay, T; Casella, P
    We report acase of!ovotesticular disorder of sex development!(DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the pertinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is necessary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.
    2014Journal article Open access Show more
  • Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
    Publication . Santos, MI; Limbert, C; Marques, FC; Rosário, F; Lopes, L
    Serum thyroid stimulating hormone (TSH) levels are frequently elevated in obese children and are most likely to be associated with insulin resistance. However, clinical relevance of this association remains unclear. OBJECTIVES: To assess the prevalence of hyperthyrotropinemia; to analyze the relationship between TSH and homeostasis model assessment - insulin resistance (HOMA-IR); and to verify whether TSH levels and HOMA-IR vary with weight loss in obese children. SUBJECTS AND METHODS: Retrospective longitudinal study with data from baseline and 1 year after lifestyle intervention in a pediatric obese group (344 children were recruited and 100 among them completed follow-up). For postintervention analysis, three groups were considered according to body mass index-standard deviation score (BMI-SDS) variations: ≤-0.5 (significant weight loss); 0.5-0 (weight loss); and >0 (weight gain). Statistical analysis was performed using SPSS 19.0®. RESULTS: The prevalence of increased TSH levels was 9.3%. At baseline TSH (p=0.007), fT4 (p=0.006), and HOMA-IR (p<0.001) were positively correlated to BMI-SDS (n=344). Weight reduction was verified in 67 out of 100 cases but significant loss was present in only 21 cases. Decreases in both TSH and BMI-SDS were independently associated with decreases in HOMA-IR (p=0.005 and p=0.016, respectively). There was no correlation between TSH and BMI-SDS variation. Significant decreases in the HOMA-IR (p=0.006) were only achieved in the significant weight loss group. CONCLUSIONS: The prevalence of hyperthyrotropinemia was lower than previously reported. However, cutoff values were adjusted to pubertal stage, suggesting an over report in other studies. Insulin resistance and TSH were positively correlated, independent of body status. Although weight loss was not associated with TSH variation, a decrease in TSH levels was independently associated with decreases in HOMA-IR.
    2015-05Journal article Open access Show more
  • Children with Type 1 Diabetes of Early Age at Onset - Immune and Metabolic Phenotypes
    Publication . Sales Luis, M; Alcafache, M; Ferreira, S; Fitas, AL; Simões Pereira, J; Caramalho, I; Lopes, L; Limbert, C
    Objectives We aimed to evaluate children with type 1 diabetes (T1D) with early age at onset (EAO) for clinical, immune and metabolic features in order to identify age-related disease phenotypes. Methods Comparative study of two groups of T1D children: EAO (≤5 years) and later age at onset (LAO; >5 years), regarding the presence of other autoimmune (AI) diseases, diabetes ketoacidosis and immunologic profile at onset and metabolic data 1 year after diagnosis. Statistical analysis was performed with significance set for p < 0.05. Results The study included 137 children (EAO = 52, mean age 3.6 ± 1.5 [mean ± standard deviation (SD)] and LAO = 85, mean age 10.4 ± 2.9). EAO was more associated with concomitant AI diseases (p = 0.032). Despite no differences in disease onset, EAO presented with lower C-peptide levels (p = 0.01) and higher absolute lymphocyte number (p < 0.0001), with an inverse correlation between these two variables (p = 0.028). Additionally, the EAO group had a higher frequency of serum detection of three antibodies (Abs) (p = 0.0008), specifically insulin Abs (p = 0.0001). One year after diagnosis, EAO had higher total daily insulin (TDI) dose (p = 0.008), despite similar hemoglobin A1c (HbA1c). Conclusions Our data show an association of EAO T1D with more AI diseases, higher number of Abs, lower initial insulin reservoir and higher insulin requirements 1 year after diagnosis. In this group, immune imbalance seems more evident and disease progression faster, probably reflecting distinct "immune environment" with different ages at disease onset. Further studies in the field of immunogenetics and immune tolerance are required, to improve patient stratification and find novel targets for therapeutic intervention.
    2019-09-25Journal article Open access Show more
  • Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis
    Publication . Marques, P; Jacinto, S; Pinto, MC; Limbert, C; Lopes, L
    Pseudotumor cerebri (PTC) is defined by clinical criteria of increased intracranial pressure, elevated intracranial pressure with normal cerebrospinal fluid (CSF) composition, and exclusion of other causes such tumors, vascular abnormalities, or infections. The association of PTC with levothyroxine (LT4) has been reported. A 12-year-old boy has been followed up for autoimmune thyroiditis under LT4. Family history was irrelevant for endocrine or autoimmune diseases. A TSH level of 4.43 μUI/mL (0.39-3.10) motivated a LT4 adjustment from 75 to 88 μg/day. Five weeks later, he developed horizontal diplopia, convergent strabismus with left eye abduction palsy, and papilledema. Laboratorial evaluation revealed elevated free thyroxine level (1.05 ng/dL [0.65-1.01]) and low TSH, without other alterations. Lumbar puncture was performed and CSF opening pressure was 24 cm H2O with normal composition. Blood and CSF cultures were sterile. Brain MRI was normal. LT4 was temporarily discontinued and progressive improvement was observed, with a normal fundoscopy at day 10 and reversion of diplopia one month later. LT4 was restarted at lower dose and gradually titrated. The boy is currently asymptomatic. This case discloses the potential role of LT4 in inducing PTC. Despite its rarity and unclear association, PTC must be seen as a potential complication of LT4, after excluding all other intracranial hypertension causes.
    2016Journal article Open access Show more
  • Função Tiroideia em Doentes com Trissomia 21 – Casuística de Duas Consultas num Hospital Pediátrico Central
    Publication . Castro, S; Amaral, D; Pinto, M; Pina, R; Lopes, L; Fonseca, G
    Em crianças e adolescentes com síndrome de trissomia 21 observa-se uma prevalência aumentada de alterações da função tiroideia. A mais frequentemente encontrada é o hipotiroidismo subclínico, seguida do hipotiroidismo clínico e, mais raramente, doença de Graves. O diagnóstico de hipotiroidismo é, por vezes, tardio pois os sintomas são confundidos com as manifestações características da trissomia 21, sendo portanto fundamental rastrear sistematicamente a função tiroideia nestas crianças. A velocidade de crescimento é um elemento clínico que pode contribuir quer para a valorização do diagnóstico quer da terapêutica apesar de esta não ser totalmente consensual. Descreve-se a casuística de um Hospital Central Pediátrico em foram seguidas quarenta e cinco crianças e adolescentes com trissomia 21, entre Janeiro de 2000 e Maio de 2008. Neste grupo de crianças, foram detectadas alterações da função tiroideia em dezanove; a alteração mais frequente foi o hipotiroidismo subclínico (treze) seguida do hipotiroidismo clínico (cinco); houve apenas um caso de hipertiroidismo. As alterações da função tiroideia aumentaram com a idade dos doentes, foram mais frequentes no sexo feminino e tiveram uma clínica inespecífica.
    2012Journal article Open access Show more
  • Hipotiroidismo Associado a Anticorpos Anti-Receptor da Hormona TSH com Ação Bloqueadora Determinada In Vitro
    Publication . Marques, P; Chikh, K; Charrié, A; Pina, R; Bugalho, MJ; Lopes, L
    Thyroid-stimulating hormone-receptor autoantibodies normally causes hyperthyroidism. However, they might have blocking activity causing hypothyroidism. A 11-year-old girl followed due to type 1 diabetes mellitus, celiac disease and euthyroid lymphocytic thyroiditis at diagnosis. Two years after the initial evaluation, thyroid-stimulating hormone was suppressed with normal free T4; nine months later, a biochemical evolution to hypothyroidism with thyroid-stimulating hormone-receptor autoantibodies elevation was seen; the patient remained always asymptomatic. Chinese hamster ovary cells were transfected with the recombinant human thyroid-stimulating hormone -receptor, and then exposed to the patient's serum; it was estimated a 'moderate' blocking activity of these thyroid-stimulating hormone-receptor autoantibodies, and concomitantly excluded stimulating action. In this case, the acknowledgment of the blocking activity of the serum thyroid-stimulating hormone-receptor autoantibodies, supported the hypothesis of a multifactorial aetiology of the hypothyroidism, which in the absence of the in vitro tests, we would consider only as a consequence of the destructive process associated to lymphocytic thyroiditis.
    2015Journal article Open access Show more
  • Immune Cell and Cytokine Patterns in Children with Type 1 Diabetes Mellitus Undergoing a Remission Phase: A Longitudinal Study
    Publication . Fitas, AL; Martins, C; Borrego, LM; Lopes, L; Jörns, A; Lenzen, S; Limbert, C
    Objective: Type 1 diabetes (T1D) develops in distinct stages, before and after disease onset. Whether the natural course translates into different immunologic patterns is still uncertain. This study aimed at identifying peripheral immune patterns at key time-points, in T1D children undergoing remission phase. Methods: Children with new-onset T1D and healthy age and gender-matched controls were recruited at a pediatric hospital. Peripheral blood samples were evaluated by flow cytometry at 3 longitudinal time-points: onset (T1), remission phase (T2) and established disease (T3). Cytokine levels were quantified by multiplex assay. Fasting C-peptide, HbA1c, and 25OHD were also measured. Results: T1D children (n = 28; 10.0 ± 2.6 years) showed significant differences from controls in circulating neutrophils, T helper (Th)17 and natural killer (NK) cells, with relevant variations during disease progression. At onset, neutrophils, NK, Th17 and T cytotoxic (Tc)17 cells were decreased. As disease progressed, neutrophil counts recovered whereas NK counts remained low. Th17 and Tc17 cells behavior followed the neutrophil variation pattern. B-cells were lowest in the remission phase and regulatory T-cells significantly declined after remission. Two cytokine response profiles were identified. Low cytokine-responders showed higher circulating fasting C-peptide levels at onset and longer remission periods. C-peptide inversely correlated with pro-inflammatory and cytotoxic cells. Conclusions: Our data suggest an association between immune cells, cytokine patterns and metabolic counterparts. The dynamic changes of circulating immune cells during disease progression involve key innate and acquired immune cell types. This longitudinal picture of T1D progression may enable disease staging and patient stratification, essential for individualized treatment.
    2018Journal article Open access Show more
  • Importância da prova de Synacthen no diagnóstico diferencial de pubarca precoce
    Publication . Santos, MJ; Amaral, D; Limbert, C; Pina, R; Lopes, L
    Nos doentes com pubarca precoce, o gold-standard para o diagnóstico diferencial entrepubarca precoce idiopática (PPI) e a forma não clássica da hiperplasia congénita da suprarrenal (HCSR--NC) é a prova de Synacthen. Esta permite também estimar a reserva adrenal de cortisol nos doentes comHCSR-NC.Objetivos: Comparar as características clínicas e perfil hormonal basal dos doentes com pubarca pre-coce; avaliar a importância da prova de Synacthen no diagnóstico diferencial entre PPI e HCSR-NC e na determinação da reserva adrenal de cortisol. Material e métodos: Estudo transversal de doentes com pubarca precoce que realizaram prova de Synacthen .Resultados: Foram incluídos 43 doentes, com idade mediana de 7,5 anos (3,5-9,4), sendo 37 (86,0%) do sexo feminino. Na prova de Synacthen, 37 (86,0%) foram classificados como PPI e 6 (14,0%) como HCSR-NC.Não houve diferenças significativas entre os 2 grupos quanto às características clínicas e doseamentos basais de ACTH, cortisol e androgénios da suprarrenal. A 17-OHP basal e estimulada foi mais elevadanos doentes com HCSR-NC (p = 0,001 e p < 0,001, respetivamente) (basal: 4,62 ± 3,70 ng/ml [0,80-10,50];estimulada: 35,41 ± 24,87 ng/ml [12,0-80,2]) do que nos doentes com PPI (basal: 1,04 ± 0,77 ng/ml [0,22-3,80]; estimulada: 4,18 ± 1,71 ng/ml [1,0-8,96]). O cut-off basal habitualmente proposto (< 2,0 ng/ml) para a distinção entre estes grupos não o permitiu em 2 doentes, que apenas foram diagnosticados após realização da prova de Synacthen. Dois doentes com HCSR-NC (33,3%) tiveram cortisol após estimulação< 18 g/dl, revelando necessidade de tratamento com glucocorticoide em stress. Os doentes com HCSR--NC com valores mais elevados de 17-OHP basal tiveram valores de cortisol mais baixos após estimulação(p = 0,004; r = -0,43).Conclusão: A realização desta prova foi útil para distinguir os doentes com HCSR-NC e PPI, pois nenhum valor de 17-OHP basal permitia fazer o diagnóstico diferencial definitivo. Em alguns doentes com HCSR-NCa prova revelou secreção inapropriada de cortisol em stress, contribuindo para a decisão terapêutica.
    2016Journal article Open access Show more