Sonography of the distal femoral epiphysis in the etiological diagnosis of congenital hypothyroidism.

The etiology of congenital hypothyroidism (CH) is often difficult to identify, owing mainly to limitations in currently available diagnostic tests. Characteristics of the distal femoral epiphyseal (DFE) ossification center may provide important information and help identify some causes of CH. We analyzed the contribution of DFE ultrasonography in the investigation of 11 young infants with positive screening for CH. DFE ultrasonography emerged as a simple test that helped indicate the period of onset of CH and, when associated with clinical history, hormone levels, and thyroid ultrasonography, contributed to suggest the etiology of CH.

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil.

OBJECTIVE: To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. METHODS: A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients identified as deficient were submitted to molecular analysis quantitative real-time polymerase chain reaction - (qPCR) to investigate the presence of variants associated with the deficiency. RESULTS: The total prevalence of G6PD deficient was 2.5%. Of the 25 samples identified as deficient, 21 were submitted to qPCR assay to analyze the presence of G202A, A376G and C563T variants. All samples showed the G202A/A376G genotype, characterizing G6PD A- phenotype. CONCLUSION: The prevalence of G6PD deficiency in the present study was similar to that observed in other study populations in Brazil. Molecular analysis identified in all patients the presence of the genetic polymorphism G202A/A376G, more common in the Brazilian population with G6PD deficiency, which is directly estimated by enzyme activity level.

Prevalence of G6PD deficiency and molecular characterization of G202A, A376G and C563T polymorphisms in newborns in Southeastern Brazil / Prevalência da deficiência de G6PD e caracterização molecular dos polimorfismos G202A, A376G e C563T em neonatos no Sudeste do Brasil

ABSTRACT Objective To evaluate the prevalence of G6PD deficiency and characterize G202A, A376G and C563T polymorphisms in neonates using molecular assays. Methods A total of one thousand samples were tested through quantitative analysis of enzyme activity, detecting 25 G6PD-deficient individuals. Patients identified as deficient were submitted to molecular analysis quantitative real-time polymerase chain reaction - (qPCR) to investigate the presence of variants associated with the deficiency. Results The total prevalence of G6PD deficient was 2.5%. Of the 25 samples identified as deficient, 21 were submitted to qPCR assay to analyze the presence of G202A, A376G and C563T variants. All samples showed the G202A/A376G genotype, characterizing G6PD A- phenotype. Conclusion The prevalence of G6PD deficiency in the present study was similar to that observed in other study populations in Brazil. Molecular analysis identified in all patients the presence of the genetic polymorphism G202A/A376G, more common in the Brazilian population with G6PD deficiency, which is directly estimated by enzyme activity level.

RESUMO Objetivo Avaliar a prevalência da deficiência de G6PD e caracterizar, por ensaios moleculares, os polimorfismos G202A, A376G e C563T em recém-nascidos. Métodos Foram testadas mil amostras por meio da análise quantitativa da atividade enzimática, detectando 25 portadores de deficiência de G6PD. Os pacientes identificados como deficientes foram submetidos à análise molecular reação em cadeia da polimerase em tempo real (qPCR) para pesquisa da presença das variantes associadas à deficiência. Resultados A prevalência total de deficientes de G6PD foi de 2,5%. Das 25 amostras identificadas como deficientes, 21 foram submetidas ao qPCR, para análise da presença das variantes G202A, A376G e C563T. Todas as amostras apresentaram o genótipo G202A/A376G, caracterizando fenótipo G6PD A-. Conclusão A prevalência da deficiência da G6PD no presente estudo foi semelhante à verificada em outras populações de estudo no Brasil. A análise molecular identificou em todos os pacientes a presença do polimorfismo genético G202A/A376G, mais comum na população brasileira portadora da deficiência de G6PD, que é diretamente estimada pelo nível de atividade enzimática.