Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil.

OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.

Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil / Características clínicas e laboratoriais de crianças e adolescentes com hipotireoidismo congênito devido a disormonogênese no sul do Brasil

OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.

OBJETIVO: Caracterizar o fenótipo de pacientes com hipotireoidismo congênito (HC) por disormonogênese e sugerir o nível do defeito genético. SUJEITOS E MÉTODOS: Pacientes com disormonogênese foram subdivididos em G1 (captação de 131I > 15%; n = 62) e G2 (captação < 15%; n = 32). Tireoglobulina (TG) foi dosada em todos, teste de descarga do perclorato (TDP) foi realizado no G1 e relação iodo salivar/sérico (I- S/P), no G2. RESULTADOS: Os valores de TSH, T4T e T4L pré-tratamento e na confirmação do diagnóstico foram significativamente diferentes em ambos os grupos (p < 0,01), mas não entre eles. No G1, 27 pacientes desenvolveram bócio; TDP foi positivo em 17 (descarga de 14%-71%); 11 tiveram TG < 2,5 ng/dL (um com TSH elevado) e um desenvolveu carcinoma de tireoide. No G2, quatro pacientes desenvolveram bócio e três apresentaram baixa I- S/P. CONCLUSÃO: Esses dados sugerem defeito na organificação do iodeto em 17 casos; defeito no transporte do iodeto (defeito na NIS) em três, provável resistência ao TSH em 10 e defeito na síntese de TG em dois.

[Final height (FH) in Turner syndrome (TS): experience of 76 cases followed at the Pediatric Endocrinology Unit, Hospital de Clinicas, Federal University of Paraná]. / Estatura final (EF) em síndrome de Turner (ST): experiência de 76 casos acompanhados na Unidade de Endocrinologia Pediátrica do Hospital de Clínicas da Universidade Federal do Paraná

OBJECTIVE: To report the final height (FH) of 76 patients with Turner syndrome (TS). MATERIALS AND METHODS: Review of the files and calculation of z scores: of target height (TH), and FH according to NCHS/CDC/2000 and FH according to Lyon and cols. RESULTS: Patients were classified in three groups: A (n = 16), treatment with estrogens and progestogens; B (n = 21), treatment with oxandrolone (OX); C (n = 39), growth hormone (GH) plus OX. The z score of TH was not different among the groups and z score of FH was not different between A e B. Z score of FH of group C was greater than the other groups, > 2SDS of Lyon's curve and fitted on the 3(rd) percentile of NCHS/CDC. Multiple regression analysis showed type of treatment (p < 0.001) and maternal height (p = 0.02) as most influencing factors on FH. CONCLUSION: GH plus OX and maternal height contributed significantly to enhance FH of TS patients.

Estatura final (EF) em síndrome de Turner (ST): experiência de 76 casos acompanhados na Unidade de Endocrinologia Pediátrica do Hospital de Clínicas da Universidade Federal do Paraná / Final height (FH) in Turner syndrome (TS): experience of 76 cases followed at the Pediatric Endocrinology Unit, Hospital de Clinicas, Federal University of Paraná

Objetivo: Relatar estatura final (EF) em 76 pacientes com síndrome de Turner (ST). Materiais e métodos: Revisão de prontuários e avaliação dos escores z: da estatura alvo (EA) e EF segundo o NCHS/CDC/2000 e da EF segundo Lyon e cols. Resultados: Pacientes foram classificados em três grupos: A (n = 16), tratamento com estrogênios e progestágenos; B (n = 21), tratamento com oxandrolona; C (n = 39), tratamento com hormônio de crescimento (GH) e oxandrolona. Não houve diferença no escore z da EA entre os grupos e no escore z da EF entre A e B. O escore z da EF do grupo C foi maior que o dos outros grupos, maior que 2 DP segundo Lyon e no percentil 3 da curva NCHS/CDC. Análise de regressão múltipla mostrou tipo de tratamento (p < 0,001) e estatura materna (p = 0,02) como fatores que mais influenciaram a EF. Conclusão: GH mais OX e estatura materna contribuíram significativamente para aumento da EF na ST.

Objective: To report the final height (FH) of 76 patients with Turner syndrome (TS). Materials and methods: Review of the files and calculation of z scores: of target height (TH), and FH according to NCHS/CDC/2000 and FH according to Lyon and cols. Results: Patients were classified in three groups: A (n = 16), treatment with estrogens and progestogens; B (n = 21), treatment with oxandrolone (OX); C (n = 39), growth hormone (GH) plus OX. The z score of TH was not different among the groups and z score of FH was not different between A e B. Z score of FH of group C was greater than the other groups, > 2SDS of Lyon's curve and fitted on the 3rd percentile of NCHS/CDC. Multiple regression analysis showed type of treatment (p < 0.001) and maternal height (p = 0.02) as most influencing factors on FH. Conclusion: GH plus OX and maternal height contributed significantly to enhance FH of TS patients.

[Transient neonatal hypothyroidism due to amiodarone administration during pregnancy--two cases report and review of literature]. / Hipotireoidismo neonatal transitório causado pelo uso de amiodarona durante a gestação--relato de dois casos e revisão da literatura.

INTRODUCTION: Amiodarone (AMD) is an antiarrhythmic agent which contains 37% of iodine. It can reach the fetus by transplacental passage and induce transient congenital hypothyroidism (TCH). We report two cases of TCH caused by gestational exposure to AMD, detected by the Newborn Screening Program for Congenital Hypothyroidism of the State of Paraná-Brazil. CLINICAL CASE 1 (C1): Neonatal TSH value was 78.2 mU/L (normal<15 mU/L). AMD had been given to the mother during pregnancy to treat maternal arrhythmia. The screening results were confirmed by serum thyroid function tests. Levothyroxin (L-T4) (50 microg/day) was started on the first visit, on the 14th day of life (dl). CLINICAL CASE 2 (C2): Neonatal TSH value was 134.0 mU/L. AMD had been given to the mother in the third trimester of pregnancy to treat maternal arrhythmia. The screening results were confirmed by serum thyroid function tests: L-T4 (50 microg/day) was started on the first visit, with 13 dl. FOLLOW-UP: TSH and T4 normalized on 51 dl (C1) and 36 dl (C2); L-T4 could be diminished gradually and stopped within 16 months (C1) and 10 months (C2). They were followed-up until 22 months (C1) and 16 months (C2) with normal thyroid function tests. Their growth and mental development, evaluated by the Cognitive Adaptive Test/Clinical Linguistic & Auditory Milestone Scale (CAT/CLAMS test), were normal. CONCLUSION: Evaluation of thyroid function and mental development should be performed if AMD is used during pregnancy. Treatment of TCH must be started as soon as the diagnosis is made.

Hipotireoidismo neonatal transitório causado pelo uso de amiodarona durante a gestação: relato de dois casos e revisão da literatura / Transient neonatal hypothyroidism due to amiodarone administration during pregnancy: two cases report and review of literature

INTRODUÇÃO: A amiodarona (AMD) é uma droga antiarrítmica que contém 37 por cento de iodo. A AMD pode alcançar o feto por via transplacentária e causar hipotireoidismo congênito (HC) ou transitório (HCT). Relatamos dois casos de HCT em virtude de exposição gestacional à AMD, detectados pelo programa de triagem neonatal para HC no Estado do Paraná, Brasil. CASO CLÍNICO 1 (C1): TSH neonatal 78,2 mU/L (normal < 15 mU/L). A AMD foi utilizada durante toda a gestação em virtude de arritmia materna. As dosagens séricas iniciais confirmaram o HC; e na primeira consulta [aos 14 dias de vida (dv)], foi iniciada levotiroxina (L-T4), 50 µg/dia. CASO CLÍNICO 2 (C2): TSH neonatal 134 mU/L. A AMD foi utilizada no último trimestre da gestação em virtude de arritmia materna. As dosagens séricas iniciais confirmaram o HC; aos 13 dv, foi iniciada L-T4 50 µg/dia. ACOMPANHAMENTO: TSH e T4 estavam normais aos 51 dv (C1) e aos 36 dv (C2) sendo então gradativamente reduzida a dose da medicação e suspensa aos 16 meses (C1) e aos dez meses (C2). As pacientes foram acompanhadas até 22 meses (C1) e 16 meses (C2) com testes de função tireoidiana normais. O crescimento e o desenvolvimento neuropsicomotor (DNPM), avaliados pelo teste CAT/CLAMS, eram normais. CONCLUSÃO: As avaliações da função tireoidiana e do DNPM são necessários quando a AMD é utilizada na gestação. O tratamento do HCT deve ser instituído tão logo o diagnóstico seja realizado.

INTRODUCTION: Amiodarone (AMD) is an antiarrhythmic agent which contains 37 percent of iodine. It can reach the fetus by transplacental passage and induce transient congenital hypothyroidism (TCH). We report two cases of TCH caused by gestational exposure to AMD, detected by the Newborn Screening Program for Congenital Hypothyroidism of the State of Paraná - Brazil. CLINICAL CASE 1 (C1): Neonatal TSH value was 78,2mU/L (normal < 15 mU/L). AMD had been given to the mother during pregnancy to treat maternal arrhythmia. The screening results were confirmed by serum thyroid function tests. Levothyroxin (L-T4) (50µg/day) was started on the first visit, on the 14th day of life (dl). CLINICAL CASE 2 (C2): Neonatal TSH value was 134,0 mU/L. AMD had been given to the mother in the third trimester of pregnancy to treat maternal arrhythmia. The screening results were confirmed by serum thyroid function tests: L-T4 (50µg/day) was started on the first visit, with 13 dl. FOLLOW-UP: TSH and T4 normalized on 51 dl (C1) and 36 dl (C2); L-T4 could be diminished gradually and stopped within 16 months (C1) and 10 months (C2). They were followed-up until 22 months (C1) and 16 months (C2) with normal thyroid function tests. Their growth and mental development, evaluated by the Cognitive Adaptive Test/Clinical Linguistic & Auditory Milestone Scale (CAT/CLAMS test), were normal. CONCLUSION: Evaluation of thyroid function and mental development should be performed if AMD is used during pregnancy. Treatment of TCH must be started as soon as the diagnosis is made.

Insulin-like growth factor-1, leptin, body composition, and clinical status interactions in children with cystic fibrosis.

BACKGROUND/AIMS: Children with cystic fibrosis (CF) are of increased risk of reduced fat body mass (FBM) and lean body mass (LBM). Serum concentrations of insulin-like growth factor-1 (IGF-1)and leptin could be markers of LBM and/or FBM depletion. To evaluate the relationships between disease activity, body composition, IGF-1 and leptin concentrations in CF children. METHODS: A cross-sectional study with 26 CF children aged 5.0-15.5 years and 33 healthy controls, mean age 9.4 years. Body composition was evaluated by dual-energy X-ray absorptiometry. Fasting blood samples were analyzed for leptin, IGF-1 and IGFBP-3. RESULTS: FBM standard deviation score (SDS; CF boys -0.02 +/- 0.88 vs. 0.78 +/- 0.65, p < 0.01; CF girls -0.37 +/- 1.15 vs. 0.70 +/- 0.97, p < 0.05), leptin concentration (CF boys 2.07 +/- 0.79 vs. 3.07 +/- 1.28 ng/ml, p < 0.05; CF girls 2.71 +/- 0.86 vs. 5.00 +/- 2.95 ng/ml, p < 0.05) and IGF-1SDS (CF boys -1.43 +/- 1.50 vs. -0.32 +/- 0.88, p < 0.05; CF girls -0.66 +/- 1.66 vs. 0.64 +/- 0.57, p < 0.01) were lower in CF children compared to controls. Shwachman score was the strongest predictor of lean body mass (R = 0.63). Leptin levels explain 60% of the variability in FBM. CONCLUSION: Serum concentrations of IGF-1 and leptin are decreased in children with CF and are associated with clinical conditions and body composition.

Hiperplasia adrenal congênita: aspectos clínicos e laboratoriais / Adrenal hyperplasia congenital: clinic and laboratorial aspects

Na análise retrospectiva dos prontuários dos pacientes com hiperplasia adrenal congênita acompanhados pela Endocrinologia Pediatrica do Hospital de Clínicas da Universidade Federal do Paraná, verificamos 38 crianças, o que é uma boa casuística devido a a baixa frequência desta doença. Notamos maior número de hiperplasia adrenal congênita por deficiência de 21-hidroxilase (84,2%), principalmente a forma perdedora de sal (59,4%), como na literatura. Destacamos as formas tardias de deficiênia de 21-e11.b-hidrocilase com freqüência crescente a medida que estäo sendo melhor investigadas. Quase todos os pacientes com deficiência de 21-hidroxilase tiveram valores aumentados de 17-KS urinários, pregnanetriol (metabólito urinário da 17 OH-progesterona), 17 OHCS urinários (metabólitos do cortisol que paradoxalmente estäo aumentados, pois precursores do cortisol em excesso falseiam o exame) e 17 OH-progesterona (basal ou pós-estímulo com ACTH). As crianças, com deficiência de 11.b-hidroxilase, tiveram 17-KS e 17-OHCS urinários aumentados e composto S plasmático basal ou pós-estímulo com ACTH aumentados