RESUMO
OBJECTIVES: To assess whether 21-deoxycortisol (21deoxy) can be used to predict 21-hydroxylase deficiency (21OHD) in newborns and to evaluate the influence of gestational age and the timing of collection on 21deoxy concentrations. STUDY DESIGN: 17-hydroxyprogesterone (17OHP) and 21deoxy levels were measured in 906 newborn screening specimens (851 unaffected newborns, 55 confirmed cases of 21OHD) to compare their ability to identify babies with 21OHD. In addition, these 2 steroids were assessed in the unaffected cohort to determine the influence of gestational age (ranging from 23 to 42 weeks) and the timing of specimen collection on the measured concentrations. RESULTS: The gestational age of the newborn impacted both 17OHP and 21deoxy concentrations, but the degree of influence was more substantial for 17OHP. Timing of collection did not affect 21deoxy concentration. Moreover, 21deoxy was a better predictor of 21OHD status compared with 17OHP, with little overlap in concentrations between the unaffected population and confirmed cases of 21OHD. A streamlined decision tree using solely 21deoxy (cutoff value, 0.85 ng/mL) yielded a 91.7% positive predictive value for 21OHD screening. CONCLUSIONS: Our findings demonstrate that 21deoxy is a key disease marker of 21OHD and can be used to improve the accuracy of newborn screening for this disorder.
Assuntos
Hiperplasia Suprarrenal Congênita , Cortodoxona , 17-alfa-Hidroxiprogesterona , Hiperplasia Suprarrenal Congênita/diagnóstico , Biomarcadores , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Triagem NeonatalRESUMO
OBJECTIVE: To test the hypothesis that term-born small for gestational age (SGA) neonates have elevated thyroid-stimulating hormone (TSH) concentrations and an increased incidence of congenital hypothyroidism compared with non-SGA term neonates. STUDY DESIGN: This retrospective cohort study included all term neonates screened in Wisconsin in 2015 and 2016. The cohort was divided based on SGA status, defined as birth weight <10th percentile as calculated from the World Health Organization's sex-specific growth charts for age 0-2 years. TSH concentration on first newborn screening performed between birth and 96 hours of life and incidence of congenital hypothyroidism were compared between the SGA and non-SGA groups. RESULTS: A total of 115 466 term neonates, including 11 498 (9.96%) SGA neonates, were included in the study. TSH concentration and incidence of congenital hypothyroidism was significantly higher in the SGA group, but only TSH concentration remained significant when adjusted for potential confounding variables. CONCLUSIONS: Our data do not support a higher incidence of congenital hypothyroidism in term SGA neonates after adjusting for potential confounders. However, TSH concentrations were higher in term SGA neonates compared with term non-SGA neonates. The effects of mild thyroid hormone dysfunction on neurodevelopmental outcomes and development of chronic medical conditions merit long-term study.
Assuntos
Hipotireoidismo Congênito/epidemiologia , Recém-Nascido Pequeno para a Idade Gestacional/sangue , Hipotireoidismo Congênito/sangue , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Triagem Neonatal , Estudos Retrospectivos , Tireotropina/sangue , WisconsinRESUMO
OBJECTIVES: To determine the incidence of congenital hypothyroidism in preterm infants and to identify associated risk factors. STUDY DESIGN: A population-based cohort study was performed in preterm infants born at <32 weeks of gestational age between 2012 and 2016 in Wisconsin. Newborn screening (NBS) results and demographic data were obtained from the Wisconsin State Laboratory of Hygiene. Congenital hypothyroidism was subdivided to early TSH elevation (eTSH) and delayed TSH elevation (dTSH). Multivariate logistic regression analyses were performed to identify demographic factors associated with dTSH. RESULTS: A total of 3137 preterm infants born at 22-31 weeks of gestational age were included in the study. Mean gestational age was 28.4 ± 2.4 weeks and mean birth weight was 1191 ± 399 g. Forty-nine infants were diagnosed with congenital hypothyroidism. The overall incidence of congenital hypothyroidism was 1.56%, including a 0.13% incidence of eTSH and a 1.43% incidence of dTSH. Birth weight <1000 g, multiple gestation, and initial TSH level were identified as independent predictors for dTSH. CONCLUSION: Targeted serial NBS in Wisconsin led to a higher rate of diagnosis of congenital hypothyroidism in preterm infants than has been reported previously. The majority (92%) of congenital hypothyroidism cases were diagnosed with dTSH. Birth weight <1000 g, multiple gestation, and elevated initial TSH level were associated with increased risk for development of dTSH. We recommend obtaining targeted serial NBS in preterm infants (<32 weeks of gestational age) to improve the detection of congenital hypothyroidism.
Assuntos
Hipotireoidismo Congênito/diagnóstico , Triagem Neonatal/métodos , Tireotropina/sangue , Biomarcadores/sangue , Hipotireoidismo Congênito/sangue , Hipotireoidismo Congênito/epidemiologia , Feminino , Seguimentos , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Vigilância da População/métodos , Estudos Retrospectivos , Fatores de Risco , Wisconsin/epidemiologiaRESUMO
Thyroid dysfunction in adolescents treated with minocycline for acne has been previously described as transient effect and/or associated with autoimmune thyroiditis. We report nonimmune-mediated thyroid dysfunction associated with minocycline/doxycycline in 3 adolescents whose clinical courses suggest an adverse effect that may be more common, serious, and persistent than realized previously.
Assuntos
Antibacterianos/efeitos adversos , Hipertireoidismo/induzido quimicamente , Minociclina/efeitos adversos , Acne Vulgar/tratamento farmacológico , Adolescente , Diplopia/etiologia , Fadiga/etiologia , Feminino , Cefaleia/etiologia , Humanos , Hipertireoidismo/diagnóstico , Masculino , Polidipsia/etiologia , Tireotropina/sangue , Tiroxina/sangue , Redução de PesoRESUMO
OBJECTIVE: To develop a risk assessment model for early detection of hepatic steatosis using common anthropometric and metabolic markers. STUDY DESIGN: This was a cross-sectional study of 134 adolescent and young adult females, age 11-22 years (mean 13.3±2 years) from a middle school and clinics in Madison, Wisconsin. The ethnic distribution was 27% Hispanic and 73% non-Hispanic; the racial distribution was 64% Caucasian, 31% African-American, and 5% Asian, Fasting glucose, fasting insulin, alanine aminotransferase (ALT), body mass index (BMI), waist circumference (WC), and other metabolic markers were assessed. Hepatic fat was quantified using magnetic resonance imaging proton density fat fraction (MR-PDFF). Hepatic steatosis was defined as MR-PDFF>5.5%. Outcome measures were sensitivity, specificity, and positive predictive value (PPV) of BMI, WC, ALT, fasting insulin, and ethnicity as predictors of hepatic steatosis, individually and combined, in a risk assessment model. Classification and regression tree methodology was used to construct a decision tree for predicting hepatic steatosis. RESULTS: MR-PDFF revealed hepatic steatosis in 16% of subjects (27% overweight, 3% nonoverweight). Hispanic ethnicity conferred an OR of 4.26 (95% CI, 1.65-11.04; P=.003) for hepatic steatosis. BMI and ALT did not independently predict hepatic steatosis. A BMI>85% combined with ALT>65 U/L had 9% sensitivity, 100% specificity, and 100% PPV. Lowering the ALT value to 24 U/L increased the sensitivity to 68%, but reduced the PPV to 47%. A risk assessment model incorporating fasting insulin, total cholesterol, WC, and ethnicity increased sensitivity to 64%, specificity to 99% and PPV to 93%. CONCLUSION: A risk assessment model can increase specificity, sensitivity, and PPV for identifying the risk of hepatic steatosis and guide the efficient use of biopsy or imaging for early detection and intervention.
Assuntos
Asiático/etnologia , Negro ou Afro-Americano/etnologia , Fígado Gorduroso/diagnóstico , Fígado Gorduroso/etnologia , População Branca/etnologia , Adolescente , Antropometria , Índice de Massa Corporal , Criança , Estudos Transversais , Feminino , Humanos , Imageamento por Ressonância Magnética , Obesidade/etnologia , Sobrepeso/etnologia , Valor Preditivo dos Testes , Medição de Risco , Sensibilidade e Especificidade , Wisconsin , Adulto JovemRESUMO
OBJECTIVE: To develop a statewide school-based program of measuring and reporting cardiovascular fitness levels in children, and to create age- and sex-specific cardiovascular fitness percentile-based distribution curves. STUDY DESIGN: A pilot study validated cardiovascular fitness assessment with Progressive Aerobic Cardiovascular Endurance Run (PACER) testing as an accurate predictor of cardiovascular fitness measured by maximal oxygen consumption treadmill testing. Schools throughout the state were then recruited to perform PACER and body mass index (BMI) measurement and report de-identified data to a centralized database. RESULTS: Data on 20 631 individual students with a mean age 12.1 ± 2.0 years, BMI of 21.4 ± 5.1, and a cardiovascular fitness measured with PACER of 29.7 ± 18.2 laps (estimated maximal oxygen consumption of 36.5 mL/kg/min) were submitted for analysis. Standardized fitness percentiles were calculated for age and sex. CONCLUSIONS: This study demonstrates the feasibility of performing, reporting, and recording annual school-based assessments of cardiovascular fitness to develop standardized childhood fitness percentiles on the basis of age and sex. Such data can be useful in comparing populations and assessing initiatives that aim to improve childhood fitness. Because health consequences of obesity result from both adiposity and physical inactivity, supplementation of BMI measurement with tracking of cardiovascular fitness adds a valuable tool for large-scale health assessment.