[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.

Health-related quality of life in a cohort of youths with type 1 diabetes.

OBJECTIVE: Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

[Bone mineral density of children and adolescents with congenital hypothyroidism]. / Densidade mineral óssea de crianças e adolescentes com hipotireoidismo congênito.

UNLABELLED: A cross sectional study was made on 60 patients (9.9 +/- 1.8 yr-old) with congenital hypothyroidism (CH) (group A): 40 girls (23 prepubertal) and 20 boys (18 prepubertal). Control group (group B) was constituted of 28 healthy children (10.4 +/- 2.1 yr-old): 18 girls (8 prepubertal) and 10 boys (9 prepubertal). AIMS: To evaluate bone mineral density (BMD) and content (BMC) and to correlate them with chronological and bone age (BA), sex, sexual maturation, l-T4 dose, TSH, TT4, FT4, and CH etiology. BA, total body BMD, and BMC (DXA) were obtained of both groups. TSH, TT4, and FT4 were measured in patients only. BMD was lower in group A (0.795 +/- 0.075 g/cm(2) vs. 0.832 +/- 0.092; p = 0.04) and higher in pubertal than in prepubertal girls (p = 0.004). There was no significant difference between BMD and BMC related to sex and CH etiology. Our data demonstrated that BMD was significantly lower in children with CH, different from what has been published in the literature.

[Treatment of childhood adrenocortical tumor]. / Tratamento do tumor do córtex adrenal na infância.

Adrenocortical tumors (ACT) in children are uncommon. However, the incidence of these tumors in Paraná is 15 times higher than that worldwide. A germline mutation, R337H TP53, present in more than 95% of our patients, is probably the reason for the higher incidence in our state. A hundred twenty-five patients were treated in the period of 1966 to 2003. Surgery is the only curative treatment. In our experience, disease stage I, absence of spillage during surgery and absence of intravenous thrombus are associated with better survival rates. Preliminary data with the combination of etoposide, doxorubicin, cisplatin, and mitotane have shown that in some patients a complete remission is observed both of the tumor and metastasis. Side effects due to these drugs are common and adrenal insufficiency may occur. Glucocorticoid and mineralocorticoid reposition should be done with 2 to 3 times the physiological doses.

[Childhood adrenocortical tumors]. / Tumores do córtex adrenal na infância.

Adrenocortical tumors (ACT) in children are uncommon. However, the incidence of these tumors in Paraná, Brazil, is 15 times higher than that worldwide. We describe the clinical, laboratory and treatment characteristics and outcome of 125 patients treated in a single institution in the State of Paraná. The median age at diagnosis was 4.3 years, with a female:male ratio of 2.6:1. The most common forms of presentation were isolated virilization (51.2%) and virilization and Cushing's syndrome (42%). Nonfunctioning tumors comprised 4.8% of the cases. Two patients (1.6%) had isolated Cushing's syndrome and 1 (0.8%) had Conn's syndrome. Fifty-six percent presented hypertension. Surgery is the only curative treatment. Our data show that disease stage 1, absence of spillage during surgery and absence of intravenous thrombus were associated with better survival rates.

[Thyroid cancer in childhood and adolescence--report of 15 cases]. / Câncer de tireóide na infância e adolescência--relato de 15 casos.

Thyroid tumors are rare in childhood and adolescence. A retrospective analysis was done of fifteen patients (8 female) with thyroid carcinoma attended in the Pediatric Endocrinology Unit of the HC-UFPR, from February 1988 to March 2003. The most frequent initial complaint was an anterior cervical nodule. Ten patients were papillary carcinoma (PTC) bearers, four had medullary carcinoma (MTC; three of them with MEN-2B) and one had follicular carcinoma. Two patients with MEN-2B have de novo proto-oncogene RET mutation (Met918Thr). Fine needle aspiration (FNA) was performed in ten patients and was malignancy positive in only five of them. All patients underwent total thyroidectomy. Adjuvant radioiodine (131I) therapy was made in ten patients. Two patients died from unrelated diseases. Nine patients presented no clinical or laboratorial evidence of disease; one (PTC) developed recurrence 5 years after initial treatment and three (1 PTC, 2 MTC) have disease evidence yet. Our prognosis and clinical manifestations data are according to the literature. However, MTC prevalence (27%), sex distribution and FNA results differ from the majority of published casuistics, that can be attributed to the number of cases reported here.

Vocal self-assessment: relation with the type of instrument, gender, age, and profession in individuals without vocal complaints.

OBJECTIVE: To obtain the vocal self-assessment rates of individuals without vocal complaints and relate them to gender, occupation, and age range. METHODS: This is an observational, analytical, and cross-sectional study. In this study, 601 individuals without vocal complaints, 241 men and 360 women, aged between 18 and 59 years (mean of 30.1 years) were included. The individuals were divided into following age groups: 18-29 years (n=353; 58.7%), 30-44 years (n=159; 26.5%), and 45-59 years (n=89; 14.8%); 136 individuals (22.6%) were voice professionals and 465 (77.4%) were nonprofessionals. The individuals answered a questionnaire with identification data and the protocols Voice-Related Quality of Life (V-RQOL), Voice Handicap Index (VHI), and Voice Activity and Participation Profile (VAPP). The data were statistically analyzed. RESULTS: Mean scores obtained in the V-RQOL, VHI, and VAPP were 95.5, 5.37, and 3.06, respectively. If we transfer these values to the base 100, differences were found in the scores of the VHI and VAPP. Women presented significantly lower scores in the V-RQOL and VHI. Moreover, there were no differences in the mean scores obtained by the different age groups. Regarding professional vocal use, there were differences in the VHI and VAPP, and the "nonprofessionals" presented lower VHI than professionals. CONCLUSION: The type of the instrument, gender, and profession variables can influence the vocal self-assessment results.

Reappraisal of serum insulin-like growth factor-I (IGF-1) measurement in the detection of isolated and combined growth hormone deficiency (GHD) during the transition period.

OBJECTIVE: To evaluate the accuracy of serum IGF-1 in the detection of isolated (IGHD) or combined growth hormone deficiency (CGHD) at the transition phase. SUBJECTS AND METHODS: Forty nine patients with GHD during childhood [16 with IGHD (10 men) and 33 with CGHD (24 men); age 23.2 ± 3.5 yrs.] were submitted to an insulin tolerance test (ITT) with a GH peak < 5 µg/L used for the diagnosis of GHD at the transition phase. Pituitary function and IGF-1 measurements were evaluated in the basal sample of the ITT. Transition patients were reclassified as GH-sufficient (SGH; n = 12), IGHD (n = 7), or CGHD (n = 30). RESULTS: Five (31%) patients with IGHD and 32 (97%) with CGHD at childhood persisted with GHD at retesting. One patient with IGHD was reclassified as CGHD, whereas 3 patients with CGHD were reclassified as IGHD. Mean GH peak was 0.2 ± 0.3 µg/L in the CGHD, 1.3 ± 1.5 µg/L in the IGHD, and 18.1 ± 13.1 µg/L in the SGH group. Serum IGF-1 level was significantly higher in the SGH (272 ± 107 ng/mL) compared to IGHD (100.2 ± 110) and CGHD (48.7 ± 32.8) (p < 0.01). All patients reclassified as CGHD, 86% reclassified as IGHD, and 8.3% reclassified as SGH had low IGF-1 level, resulting in 97.3% sensitivity and 91.6% specificity in the detection of GHD at the transition period; the cutoff value of 110 ng/mL showed 94.5% sensitivity and 100% specificity. Mean IGF-1 values did not differ in IGHD or CGHD associated with one, two, three, or four additional pituitary deficiencies. CONCLUSION: IGF-1 measurement is accurate to replace ITT as initial diagnostic test for IGHD and CGHD detection at the transition phase.

Health-related quality of life in a cohort of youths with type 1 diabetes

SUMMARY Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9-16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

RESUMO A qualidade de vida relacionada à saúde (HRQOL) no diabetes mellitus tipo 1 (T1DM) tem sido amplamente estudada. Os objetivos deste estudo foram avaliar e identificar os fatores que influenciam a HRQOL de crianças e adolescentes com T1DM. MATERIAL E MÉTODOS: No total, 59 pacientes (9-16 anos, T1DM por ≥1 ano) responderam a uma versão do Instrumento de Qualidade de Vida para Jovens com Diabetes (DQOLY) adaptada aos pacientes brasileiros (IQVJD). Esse instrumento compreende satisfação, impacto e preocupações de domínios, com os menores índices correspondentes a uma melhor HRQOL, e um questionário que reúne parâmetros sociais, demográficos e clínicos. RESULTADOS: A idade média foi de 13,6 anos e 57,6% eram meninas. A idade mediana no diagnóstico foi de 7,16 anos, 63% apresentaram cetoacidose diabética (DKA) no diagnóstico e 29% durante o seguimento. A hemoglobina glicada média (HbA1c) no ano anterior foi de 10%. Todos os pacientes receberam doses múltiplas de insulina (média de 4,2 aplicações/ dia), 74,5% utilizavam análogos de insulina de ação rápida e de ação intermediária e 67,8% usavam canetas para aplicação de insulina. Os resultados do DQOLY estavam dentro do limite de corte para melhor HRQOL. Uma análise isolada de cada domínio e os resultados do questionário mostraram que os seguintes fatores estavam associados a uma maior HRQOL: score z de altura, HbA1c menor, prática de atividade física, uso de caneta, menos hospitalizações e residência em uma área rural. Houve uma alta taxa de cetoacidose diabética no diagnóstico, e o controle metabólico foi inadequado na maioria dos pacientes. Apesar de serem provenientes de famílias de baixa renda, a maioria dos pacientes teve acesso ao tratamento recomendado. CONCLUSÃO: Entre pacientes com T1DM, 71% tinham escores IQVJD compatíveis com melhor HRQOL.

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.

[Assessment of diastolic function in children and adolescents with type 1 diabetes mellitus - are there early signs of diabetic cardiomyopathy?]. / Avaliação da função diastólica em crianças e adolescentes diabéticos tipo 1 - Existem sinais precoces de miocardiopatia diabética?

OBJECTIVES: To evaluate diastolic function (DF) of children and adolescents with type 1 diabetes mellitus (DM1). SUBJECTS AND METHODS: Cross-sectional study of 67 otherwise healthy diabetic patients, and a control group (n = 84) in regard to age, sex, body mass index (BMI), Dopplere-chocardiography, and ECG for both groups; and disease duration, HbA1C, microalbuminuria, and serum lipids for DM 1 patients. RESULTS: Diastolic alterations [(A and E mitral waves, E/A ratio, isovolumic relaxation time (IVRT) and E wave deceleration time (EWDT)] were found in diabetic patients, with higher prevalence among pubertal girls (13-17 years old). IVRT and EWDT correlated positively with BMI (p = 0.028). Chronological age and disease duration were predictive factors for mitral A wave (p = 0.004 and 0.033, respectively). CONCLUSIONS: DF alterations were detected in the group of diabetic patients, with greater prevalence among pubertal girls; disease duration and age influenced parameters of DF.

[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.

Percepção dos pais sobre a qualidade de vida em voz e evolução clínica de crianças disfônicas pré e pós-terapia fonoaudiológica em grupo / Perception of parents on the quality of life in voice and clinical outcomes in dysphonic children before and after speech therapy group / La percepción de los padres sobre la calidad de vida relacionada a la voz y la evolución clínica de niños disfonicos antes y después de terapia fonoaudiologica en grupo

Objetivo: verificar a percepção dos pais acerca da qualidade de vida em voz de crianças disfônicas, pré e pós-terapia fonoaudiológica em grupo, e relacioná-la aos dados da evolução fonoaudiológica da voz. Método: estudo longitudinal, cuja população foi constituída por 6 crianças (4 meninas e 2 meninos), com idades entre 7 e 10 anos e diagnosticadas com disfonia funcional ou organofuncional, que passaram por terapia fonoaudiológica em grupo. Antes e após a terapia, os pais responderam ao protocolo ?Qualidade de Vida em Voz Pediátrico - QVV-P? e as crianças passaram por avaliação perceptivo-auditiva e acústica da voz. A terapia foi realizada em um único grupo e teve duração de 12 sessões de 40 minutos cada. Os dados foram analisados estatisticamente. Resultados: não houve diferença significante no que se refereaos escores médios obtidos nos domínios do QVV-P, pré e pós-terapia. Quanto à análise perceptivoauditiva, houve diferença entre as duas avaliações para o parâmetro ?grau geral da disfonia?. Em relação à análise acústica da voz, houve evolução quanto às medidas de jitter e shimmer e não houve diferença para a frequência fundamental. Não houve diferença significante para nenhum dos cruzamentos referentes à evolução clínica (perceptivo-auditiva e acústica) e a qualidade de vida em voz. Conclusão: não houve relação entre a qualidade de vida em voz das crianças, referida pelos pais, e a avaliação de seus parâmetros vocais, tanto antes quanto após o processo terapêutico de 12 sessões em grupo...

Objective: verify the parent?s perception about the quality of life in dysphonic voice of children, pre and post-language therapy group, and relate it to the data of the evolution of speech voice. Methods:longitudinal study, whose sample consisted of 6 children (4 girls and 2 boys) aged between 7 and 10 years old diagnosed with functional dysphonia or organofunctional who underwent speech therapygroup. Before and after therapy, the parents responded to the protocol Pediatric Voice Outcome Survey - PVOS? and the children went through perceptual evaluation and acoustic voice. Patients were treated in a single group through 12 sessions of 40 minutes each. Data were analyzed statistically. Results: There was no significant difference regarding the mean scores achieved in the PVOS, pre and post-therapy.As for perceptual analysis, there was no difference between the two evaluations for the parameter ?overall grade of dysphonia.? Regarding the acoustic analysis, there was progress on the measures of jitter and shimmer and no difference to the fundamental frequency. There were no significant differences for any of the intersections regarding clinical outcome (perceptual and acoustic) and quality of life in voice. Conclusion: there was no relationship between the quality of life in voice of children referred by parents, and evaluation of their voice parameters, both before and after the therapeutic process of 12 group sessions...

Objetivo: Verificar la percepcion de los padres sobre la calidad de vida relacionada a la voz de niños disfónicos, antes y despues de terapia fonoaudiolgica en grupo, y relacionarla a los datos de evoluciónfonoaudiologica de la voz. Método: Estudio longitudinal, cuya poplacion estuvo conformada por 6 niños (4 mujeres y 2 varones) con edades comprendidas entre los 7 y 10 años, con diagnóstico de disfonía funcional o organofuncional, sometidos a terapia fonoaudiologica grupal. Antes y después de la terapia, los padres respondieron al protocolo ?Calidad de Vida en voz Pediátrico - QVV-P? y los niños pasaron por evaluación perceptivo-auditiva e acustica de la voz. La terapia fue realizada en un solo grupo y tuvo una duración de 12 sesiones de 40 minutos cada una. Los datos se analizaron estadísticamente. Resultados: no hubo diferencia significativa con respecto a las puntuaciones medias obtenidas en el QVV-P, pre-y post-tratamiento. En cuanto al análisis perceptual auditivo, hubo diferencia entre las dos evaluaciones para el parámetro ?grado global de disfonía.? En cuanto al análisis acústico de la voz, hubo evolución se en las medidas de jitter y shimmer y ninguna diferencia en la frecuencia fundamental. No hubo diferencias significativas para ningun de los cruzamientos sobre la evolución clínica (perceptual auditiva y acústica) y la calidad de vida relaconada a la voz. Conclusiones: No hubo relación entre la calidad de vida relacionada a la voz de los niños, referida por los padres, y la evaluación de parámetros vocales, tanto antes como después del proceso terapéutico de 12 sesiones de grupo...

Reappraisal of serum insulin-like growth factor-I (IGF-1) measurement in the detection of isolated and combined growth hormone deficiency (GHD) during the transition period / Reavaliação da dosagem sérica do fator de crescimento insulina-símile-1 (IGF-1) para o diagnóstico da deficiência isolada e combinada de hormônio de crescimento no período de transição

OBJECTIVE: To evaluate the accuracy of serum IGF-1 in the detection of isolated (IGHD) or combined growth hormone deficiency (CGHD) at the transition phase. SUBJECTS AND METHODS: Forty nine patients with GHD during childhood [16 with IGHD (10 men) and 33 with CGHD (24 men); age 23.2 ± 3.5 yrs.] were submitted to an insulin tolerance test (ITT) with a GH peak < 5 µg/L used for the diagnosis of GHD at the transition phase. Pituitary function and IGF-1 measurements were evaluated in the basal sample of the ITT. Transition patients were reclassified as GH-sufficient (SGH; n = 12), IGHD (n = 7), or CGHD (n = 30). RESULTS: Five (31%) patients with IGHD and 32 (97%) with CGHD at childhood persisted with GHD at retesting. One patient with IGHD was reclassified as CGHD, whereas 3 patients with CGHD were reclassified as IGHD. Mean GH peak was 0.2 ± 0.3 µg/L in the CGHD, 1.3 ± 1.5 µg/L in the IGHD, and 18.1 ± 13.1 µg/L in the SGH group. Serum IGF-1 level was significantly higher in the SGH (272 ± 107 ng/mL) compared to IGHD (100.2 ± 110) and CGHD (48.7 ± 32.8) (p < 0.01). All patients reclassified as CGHD, 86% reclassified as IGHD, and 8.3% reclassified as SGH had low IGF-1 level, resulting in 97.3% sensitivity and 91.6% specificity in the detection of GHD at the transition period; the cutoff value of 110 ng/mL showed 94.5% sensitivity and 100% specificity. Mean IGF-1 values did not differ in IGHD or CGHD associated with one, two, three, or four additional pituitary deficiencies. CONCLUSION: IGF-1 measurement is accurate to replace ITT as initial diagnostic test for IGHD and CGHD detection at the transition phase.

OBJETIVO: Avaliar a acurácia da dosagem sérica de IGF-1 no diagnóstico da deficiência de hormônio de crescimento isolada (DGHI) ou combinada (DGHC) na fase de transição. SUJEITOS E MÉTODOS: Quarenta e nove pacientes com DGH na infância [16 DGHI (10 homens) e 33 DGHC (24 homens); idade 23,2 ± 3,5 anos] realizaram teste de tolerância à insulina (TTI), com pico de GH < 5 µg/L considerado diagnóstico de DGH na transição. Função hipofisária e níveis de IGF-1 foram determinados na amostra basal do TTI e os pacientes foram reclassificados em GH suficientes (SGH; n = 12), DGHI (n = 7) ou DGHC (n = 30). RESULTADOS: Cinco (31%) pacientes com DGHI e 32 (97%) com DGHC na infância persistiram com DGH no reteste. Um paciente com DGHI foi reclassificado como DGHC e três com DGHC como DGHI. Os picos médios de GH foram 0,2 ± 0,3 µg/L (DGHC), 1,3 ± 1,5 µg/L (DGHI) e 18,1 ± 13,1 µg/L (SGH). O nível médio de IGF-1 foi maior no grupo SGH (272 ± 107 ng/mL) comparado com DGHI (100,2 ± 110) e DGHC (48,7 ± 32,8) (p < 0,01). IGF-1 baixo foi observado em todos os pacientes reclassificados como DGHC, 86% dos DGHI e 8,3% dos SGH, resultando em sensibilidade de 97,3% e especificidade de 91,6% para detecção de DGH na transição; valor de corte de 110 ng/mL mostrou 94,5% sensibilidade e 100% especificidade. O nível médio de IGF-1 foi similar nos pacientes com DGHI ou DGHC com uma, duas, três ou quatro deficiências hipofisárias associadas. CONCLUSÃO: A dosagem sérica de IGF-1 mostrou-se acurada para substituir o TTI na detecção tanto de DGHI como DGHC na transição.

Influência do excesso de peso dos pais em relação ao sobrepeso e a obesidade dos filhos / Influence of overweight parents in relation to overweight and obesity children

Investigar a influência do IMC dos pais sobre o IMC dos seus filhos. Foram avaliados 410 adolescentes da rede de ensino público de Curitiba. O IMC dos pais foi calculado a partir dos dados de peso e estatura obtidos nos questioná­rios por eles preenchidos. Adolescentes e pais foram classificados pelo IMC. Os dados foram submetidos à análise de regressão logística com intervalo de confian­ça (IC) de 95%. Resultados: O risco relativo do adolescente com pai com sobrepeso/obesidade, de apresentar sobrepeso/obesidade, é de 1,97 vezes maior; este valor sobe para 2,28 quando a mãe apresenta sobrepeso/obesidade e para 2,65 quando ambos os pais têm sobrepeso/obesidade. Este estudo mostrou que sobrepeso/obesidade de ambos os pais aumenta o RR de excesso de peso das adolescentes femininas, enquanto que a obesidade materna é um fator de risco tanto dos adolescentes masculinos como femininos...

to investigate the relationship between parents IMC with that of their children. Subjects: 410 adolescents of both genres, drawn of public schools of Curitiba. Their BMI was obtained by direct measurement of weight and height, where as those of the parents were based on values given by them upon the filling of a questionnaire. Logistical regression analysis, with a confidence interval of 95%, was applied on the data and a p value of <0.05 was set as significant. Results: the relative risk of a given adolescent of either genre, whose father is overweight/obese, to present either overweight or obesity, is 1.97 times; when the mother has either overweight or obesity the RR value rises to 2.28, and when both parents are considered, it goes up to 2.65. This study showed a significant influence of parental state of weight upon that of their adolescent girls, whereas maternal obesity is a significant risk factor for both boys and girls...

Investigar la influencia del IMC de los padres en el índice de masa corporalde sus hijos. Se evaluaron 410 adolescentes de escuelas públicas de Curitiba. IMC de los padres se calcula a partir de los datos de peso y talla obtenidos de los cuestionarios completados por ellos. Los adolescentes y sus padres fueron clasificados por el IMC. Los datos fueron analizados mediante regresión logística, con unintervalo de confianza (IC) del 95%. Resultados: El riesgo relativo para los adolescentes con padres con sobrepeso/obesidad, el sobrepeso / obesidad, es 1.97 veces mayor, esta cifra se eleva a 2,28 cuando la madre tiene sobrepeso / obesidad y de2,65 cuando ambos los padres tienen sobrepeso / obesidad. Este estudio mostró que el sobrepeso / obesidad en los padres aumenta el riesgo relativo de las mujeres adolescentes con sobrepeso, mientras que la obesidad materna es un factor de riesgo tanto hombres como mujeres adolescentes...

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.

Avaliação da função diastólica em crianças e adolescentes diabéticos tipo 1 - Existem sinais precoces de miocardiopatia diabética? / Assessment of diastolic function in children and adolescents with type 1 diabetes mellitus - Are there early signs of diabetic cardiomyopathy?

OBJETIVOS: Avaliar a função diastólica (FD) de crianças e adolescentes diabéticos tipo 1 (DM1). SUJEITOS E MÉTODOS: Estudo transversal de 67 DM1, sem comorbidades, e grupo controle (n = 84) da mesma faixa etária. Analisaram-se: idade, sexo, índice de massa corpórea (IMC), Dopplere-cocardiografia e eletrocardiograma de ambos os grupos e, nos portadores de DM1, o tempo de doença, HbA1C, lipidograma e o valor da microalbuminúria. RESULTADOS: Encontraram-se alterações diastólicas [(A e E mitral, relação E/A, tempo de relaxamento isovolumétrico (TRIV) e tempo de desaceleração da onda E (TDE)] nos diabéticos, com maior prevalência nas meninas na faixa 13-17 anos. TRIV e TDE correlacionaram-se positivamente com o IMC (p = 0,028). Idade e tempo de doença foram fatores preditivos para a onda A mitral (p = 0,004 e 0,033, respectivamente). CONCLUSÕES: Alterações de FD foram detectadas nos DM1, com maior prevalência em meninas púberes. Tempo de doença e idade dos pacientes influenciaram parâmetros de FD.

OBJECTIVES: To evaluate diastolic function (DF) of children and adolescents with type 1 diabetes mellitus (DM1). SUBJECTS AND METHODS: Cross-sectional study of 67 otherwise healthy diabetic patients, and a control group (n = 84) in regard to age, sex, body mass index (BMI), Dopplere-chocardiography, and ECG for both groups; and disease duration, HbA1C, microalbuminuria, and serum lipids for DM 1 patients. RESULTS: Diastolic alterations [(A and E mitral waves, E/A ratio, isovolumic relaxation time (IVRT) and E wave deceleration time (EWDT)] were found in diabetic patients, with higher prevalence among pubertal girls (13-17 years old). IVRT and EWDT correlated positively with BMI (p = 0.028). Chronological age and disease duration were predictive factors for mitral A wave (p = 0.004 and 0.033, respectively). CONCLUSIONS: DF alterations were detected in the group of diabetic patients, with greater prevalence among pubertal girls; disease duration and age influenced parameters of DF.

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.

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.

Densidade mineral óssea de crianças e adolescentes com hipotireoidismo congênito / Bone mineral density of children and adolescents with congenital hypothyroidism

Realizou-se estudo transversal com 60 pacientes (9,9 ± 1,8 anos) com hipotireoidismo congênito (HC) (grupo A): 40 meninas (23 pré-púberes) e 20 meninos (18 pré-púberes), com grupo controle (grupo B) constituído por 28 indivíduos (10,4 ± 2,1 anos): 18 meninas (8 pré-púberes) e 10 meninos (9 pré-púberes). OBJETIVOS: Avaliar a densidade (DMO) e o conteúdo mineral ósseo (CMO) e correlacioná-los com idade cronológica e óssea (IO), sexo, maturação sexual, dose de l-T4, TSH, TT4, FT4, e etiologia do HC. IO, DMO e CMO de corpo total (DXA) foram obtidos dos 2 grupos; TSH, TT4 e FT4, apenas dos pacientes. DMO foi menor no grupo A (0,795 ± 0,075 g/cm² vs. 0,832 ± 0,092; p = 0,04) e maior nas meninas púberes do que nas pré-púberes (p = 0,004). Não houve diferença significativa de DMO e CMO quanto ao sexo e etiologia do HC. Nosso estudo mostra que a DMO foi significativamente menor no grupo com HC, diferente dos dados da literatura.

A cross sectional study was made on 60 patients (9.9 ± 1.8 yr-old) with congenital hypothyroidism (CH) (group A): 40 girls (23 prepubertal) and 20 boys (18 prepubertal). Control group (group B) was constituted of 28 healthy children (10.4 ± 2.1 yr-old): 18 girls (8 prepubertal) and 10 boys (9 prepubertal). AIMS: To evaluate bone mineral density (BMD) and content (BMC) and to correlate them with chronological and bone age (BA), sex, sexual maturation, l-T4 dose, TSH, TT4, FT4, and CH etiology. BA, total body BMD, and BMC (DXA) were obtained of both groups. TSH, TT4, and FT4 were measured in patients only. BMD was lower in group A (0.795 ± 0.075 g/cm² vs. 0.832 ± 0.092; p = 0.04) and higher in pubertal than in prepubertal girls (p = 0.004). There was no significant difference between BMD and BMC related to sex and CH etiology. Our data demonstrated that BMD was significantly lower in children with CH, different from what has been published in the literature.