ABSTRACT
ABSTRACT Objectives: Congenital hypothyroidism (CH) can be permanent (PCH) or transient (TCH). While the importance of thyroxine in myelination of the brain is undisputed, the benefits to neurodevelopmental outcomes of TCH treatment are controversial. Our objectives were to determine predictive factors for PCH and verify its prevalence changes over time. Subjects and methods: A total of 165 children were evaluated at 3 years of age to verify the diagnosis of PCH. 130 were submitted to a two-step cluster analysis, with the aim of grouping them into homogeneous clusters. The mean incidence of PCH and TCH was calculated from 2004 to 2010 and 2011 to 2015. Results: Sixty-six children were diagnosed with PCH, and 99 were diagnosed with TCH. Eighty-one percent of PCH children and all TCH children with thyroid imaging had glands in situ. Eighty children (61.5%) were in Cluster 1, 8 children (6.2%) were in Cluster 2 and 42 children (32.3%) were in Cluster 3. No children had PCH in Cluster 1, while 87.5% of children in Cluster 2 and all children in Cluster 3 had PCH. The most important predictor for PCH was the initial serum TSH, which was marginally higher in importance than the blood spot TSH, followed by the initial serum free T4. The mean incidence of PCH (odds ratio: 1.95, 95% CI 1.36 to 2.95, p < 0.0001) and TCH (odds ratio 1.33, 95%, CI 1.02 to 1.77, p = 0,038) increased over time. Conclusions: The most important PCH predictors are the initial serum TSH and the blood spot TSH. The mean incidence of both PCH and TCH in our series increased.
ABSTRACT
Objectives: GH therapy is still controversial, except in severe GH deficiency (SGHD). The objective of this study was to compare the response to growth hormone (GH) therapy in children with partial GH insensitivity (PGHIS) and mild GH deficiency (MGHD) with those with SGHD.Subjects and methods: Fifteen PGHIS, 11 MGHD, and 19 SGHD subjects, followed up for more than one year in the Brazilian public care service, were evaluated regarding anthropometric and laboratory data at the beginning of treatment, after one year (1 st year) on treatment, and at the last assessment (up to ten years in SGHD, up to four years in MGHD, and up to eight years in PGHIS).Results: Initial height standard deviation score (SDS) in SGHD was lower than in MGHD and PGHIS. Although the increase in 1 st year height SDS in comparison to initial height SDS was not different among the groups, height-SDS after the first year of treatment remained lower in SGHD than in MGHD. There was no difference in height-SDS at the last assessment of the children among the three groups. GH therapy, in the entire period of observation, caused a trend towards lower increase in height SDS in PGHIS than SGHD but similar increases were observed in MGHD and SGHD.Conclusion: GH therapy increases height in PGHIS and produces similar height effects in MGHD and SGHD.
Objetivos: O tratamento com GH é ainda controverso, salvo na deficiência grave de GH (SGHD). O objetivo deste estudo foi comparar a resposta ao tratamento com GH em indivíduos com insensibilidade parcial ao GH (PGHIS) e na deficiência moderada do GH (MGHD) com SGHD.Sujeitos e métodos: Quinze pacientes com PGHIS, 11 com MGHD e 19 com SGHD, seguidos por mais de um ano no Sistema Único de Saúde, foram avaliados antropométrica e laboratorialmente, no início, com um ano de tratamento e na última avaliação (tempo máximo de dez anos na SGHD, quatro anos na MGHD e oito anos na PGHIS).Resultados: O escore de desvio-padrão (EDP) da estatura inicial foi menor nos indivíduos com SGHD do que naqueles com MGHD e PGHIS. Embora o aumento no EDP da estatura no primeiro ano em comparação com o inicial não fosse diferente entre os grupos, o EDP da altura no primeiro ano de tratamento permaneceu menor na SGHD que na MGHD. Não houve diferença no EDP da estatura na última avaliação entre os três grupos. O tratamento com GH, no período completo da observação, provocou uma tendência a menor aumento no EDP da estatura nos pacientes com PGHIS que naqueles com SGHD, entretanto aumentos semelhantes foram encontrados nos grupos MGHD e SGHD.Conclusão: O tratamento com GH aumentou a estatura nos indivíduos com PGHIS e produziu efeitos similares na estatura em MGHD e SGHD.
Subject(s)
Adolescent , Child , Humans , Human Growth Hormone/therapeutic use , Insulin-Like Growth Factor I/analysis , Laron Syndrome/drug therapy , Age Determination by Skeleton , Analysis of Variance , Body Mass Index , Brazil , Body Height/drug effects , Human Growth Hormone/blood , Luminescent Measurements , Retrospective Studies , Recombinant Proteins/therapeutic useABSTRACT
OBJETIVES: Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. METHODS: Genotypes were classified into 3 mutation groups (A, B and C), based on the degree of enzymatic activity. Screening for 7 microconversions by allele-specific PCR diagnosed 74.3 percent (n=26) of the 35 unrelated alleles. RESULTS: The most frequent mutations were Q318X (25.7 percent), V281L (17.1 percent), I2 Splice (14.3 percent), I172N (14.3 percent), and R356W (14.3 percent). Genotype was identified in 57.1 percent of the patients. We observed correlation between genotype and phenotype in 91.7 percent of the cases. CONCLUSION: The highest frequency for Q318X (25.7 percent) when compared to other studies may reflect individual sample variations in this Northeastern population.
OBJETIVOS: Deficiência de 21-hidroxilase é a forma mais comum de hiperplasia adrenal congênita (CAH-21OH). O objetivo deste estudo foi determinar, por PCR alelo-específica, a freqüência de microconversões no CYP21A2, em 16 pacientes com a forma clássica e em cinco pacientes com a forma não-clássica (NC) de CAH-21OH e correlacionar o genótipo com o fenótipo. MÉTODOS: Genótipo foi classificado em três grupos de mutações (A, B e C), baseado no grau de atividade enzimática. A técnica de PCR alelo-específico diagnosticou 74,3 por cento (n = 26) dos 35 alelos não relacionados. RESULTADOS: As mutações mais freqüentes foram Q318X (25,7 por cento), V281L (17,1 por cento), I2 Splice (14,3 por cento), I172N (14,3 por cento) e R356W (14,3 por cento). O genótipo foi identificado em 57,1 por cento dos pacientes. Houve correlação genótipo-fenótipo em 91,7 por cento dos casos. CONCLUSÃO: A mais alta freqüência da mutação Q318X (25,7 por cento) comparada a outros estudos pode refletir variações individuais desta população do nordeste.