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OBJECTIVE: To investigate the relationship of serum uric acid (Uacid) and derived parameters as predictors of insulin resistance (IR) and elevated liver transaminases in children and adolescents METHODS: Data of 1648 participants aged 10-18 years was analyzed using nationwide survey. Logistic regression analysis was performed with IR and elevated liver transaminases as dependent variables, and odds ratios (ORs) and 95% confidence intervals (CIs) for tertiles 2 and 3 of each parameter in comparison to tertile 1, which served as the reference. Receiver operating characteristic (ROC) curves were generated to assess predictability of the parameters for IR and elevated liver transaminases. RESULTS: Hyperuricemia, IR, and elevated liver transaminases were significantly associated with each other. All Uacid and derived markers showed continuous increase in ORs and 95% CIs for IR and elevated liver transaminases across the tertiles of several biochemical and metabolic variables of interest (all p < 0.001), and were also significantly predictive in ROC curve. Overall, Uacid combined with obesity indices showed higher ORs and area under the curve (AUC) compared to Uacid alone. Uacid-body mass index (BMI) standard deviation score presented the largest AUC for IR. For elevated liver transaminases, Uacid-BMI and Uacid-waist-to-height ratio showed the largest AUC. CONCLUSIONS: Uacid combined with obesity indices are robust markers for prediction of IR and elevated liver transaminases in children and adolescents. Uacid and derived markers have potential as simple markers which do not require fasting for screening of IR and elevated liver transaminases in children and adolescents.
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PURPOSE: Nonambulatory pediatric patients may have low bone mineral density (BMD) and increased risk of pathologic fractures. Though bisphosphonate therapy is the mainstream medical intervention in these children, clinical data regarding this treatment are limited. Therefore, this study aimed to evaluate the effectiveness and safety of bisphosphonate therapy in such children. METHODS: We conducted a retrospective study of 21 nonambulatory children (Gross Motor Function Classification System level V) with BMD z-score ≤ -2.0 who were treated with intravenous pamidronate for at least 1 year. These patients received pamidronate every 4 months at a dose of 1.0 to 3.0 mg/kg for each cycle and had regular follow-ups for at least 1 year. The main outcome measures were changes in BMD, risk rate of fracture, biochemical data, and adverse events. RESULTS: The average duration of pamidronate treatment was 2.0±0.9 years, and the mean cumulative dose of pamidronate according to body weight was 7.7±2.5 mg/kg/yr. After treatment, the mean lumbar spine bone mineral content, BMD, and height-for-age-z-score-adjusted BMD z-score (BMDhazZ) significantly improved. The relative risk of fracture after treatment was 0.21 (p=0.0032), suggesting that pamidronate treatment reduced fracture incidence significantly. The increase in the average dose per body weight in each cycle significantly increased the changes in BMDhazZ. CONCLUSION: Pamidronate treatment improved the bone health of nonambulatory children with low bone density without any significant adverse events. Independent of cumulative dosage and duration of treatment, the effectiveness of pamidronate increased significantly with an increase in the average dose per body weight in subsequent cycles.
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Background: Although numerous studies have reported that obesity in adolescents is related to shorter sleep duration, few studies have reported the effect of sleep timing, particularly early wake-up time, on obesity. Objectives: To investigate the association between wake-up time and adolescent obesity. Methods: Using the Korean National Health and Nutrition Examination Survey VII data, 1301 middle school and high school students were selected and grouped according to BMI. Sleep timing and lifestyle factors were evaluated using self-reported questionnaires. Results: The mean bedtime and wake-up time were 00:09 am and 07:06 am, respectively. Despite similar bedtimes, the group with overweight/obesity woke up earlier than the group with underweight/normal weight. The BMI z-score and the overweight/obesity relative risk decreased as the wake-up time was delayed, even after adjustment for covariates. Participants who woke up before 06:50 am had a 1.82-fold higher risk of having overweight/obesity than those who woke up after 07:30 am. Participants who woke up late tended to sleep longer than those who woke up early. Conclusions: Waking up early is significantly associated with an increased BMI z-score in adolescents and may be a risk factor for overweight/obesity.
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Obesidad Infantil , Humanos , Adolescente , Obesidad Infantil/epidemiología , Sobrepeso , Encuestas Nutricionales , Sueño , Índice de Masa CorporalRESUMEN
Purpose: Magnetic resonance imaging (MRI) can be used for assessing the morphology of pituitary gland. The purpose of this study was 1) to determine whether the pituitary volume (PV) distinguish growth hormone (GH) deficiency from idiopathic short stature (ISS) and 2) to validate an association between PV and severity of GH deficiency and 3) to compare the PV between good and poor response groups in children with GH deficiency and ISS. Methods: Data were collected from the medical records of 152 children with short stature who underwent GH stimulation test, sella MRI, and GH treatment. Estimated PV were calculated using the formula of an ellipsoid. We compared the PV in patients with GH deficiency with that of patients with ISS. In addition, we assessed the association between PV and severity of GH deficiency, and growth response after treatment. Results: No difference was observed in the PV between patients with GH deficiency and ISS. The PV seemed to be smaller as the degree of GH deficiency was severe (P=0.082). The PV in good response group was smaller than that in poor response group in patients with GH deficiency (P< 0.005). The PV showed no association with responsiveness to GH treatment in patients with ISS (P=0.073). Conclusions: The measurement of PV cannot be used for differential diagnosis between GH deficiency and ISS. In patients with GH deficiency, the PV tend to be smaller as the severity of GH deficiency even though no statistical significance, and may be a good response predictor for GH treatment.
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Introduction: The parent-child correlation in metabolic syndrome (MetS) and elevated transaminases is sparsely researched. We assessed the correlation of parental MetS and elevated transaminase status with these conditions in their children. Methods: Data of 4,167 youths aged 10-18 years were analyzed in a population-based survey, and the parental characteristics were stratified by the presence or absence of MetS or alanine aminotransferase (ALT) elevation in their children. The prevalence of these conditions in children was analyzed according to their parents' status. Logistic regression analyses were performed with MetS and ALT elevation in youth as the dependent variables. Results: The proportions of MetS and ALT elevation were higher in parents of children with MetS and ALT elevation than in those without, even among youths without obesity. In logistic regression analyses, age, body mass index-standard deviation score (BMI-SDS), and ALT elevation were positively associated with MetS, whereas age, male sex, BMI-SDS, protein intake, and MetS were positively associated with ALT elevation. Higher protein intake was related to ALT elevation, whereas metabolic components and nutritional factors were closely related in parents and their children. Odds ratios (OR) of ALT elevation for MetS was 8.96 even after adjusting nutritional factors in the children. The OR was higher for ALT elevation in the children of parents with MetS and ALT elevation compared to those without. ORs for MetS and ALT elevation in the children of parents with MetS were higher than those of children of parents without MetS, even after adjusting for nutritional intake. ORs for ALT elevation were higher in the children of parents with ALT elevation than those without, even after adjusting for nutritional intake and BMI of parents as well as the nutritional intake, age, sex, and BMI-SDS of the children. Conclusion: MetS and elevated liver transaminase statuses in children were associated with those of their parents even after adjusting for nutritional factors, and the relationships were more prominent in the youth without obesity.
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PURPOSE: The appropriate evaluation of height and accurate estimation of bone age are crucial for proper assessment of the growth status of a child. We developed a bone age estimation program using a deep learning algorithm and established a model to predict the final adult height of Korean children. MATERIALS AND METHODS: A total of 1678 radiographs from 866 children, for which the interpretation results were consistent between two pediatric endocrinologists, were used to train and validate the deep learning model. The bone age estimation algorithm was based on the convolutional neural network of the deep learning system. The test set simulation was performed by a deep learning program and two raters using 150 radiographs and final height data for 100 adults. RESULTS: There was a statistically significant correlation between bone age interpreted by the artificial intelligence (AI) program and the reference bone age in the test set simulation (r=0.99, p<0.001). In the test set simulation, the AI program showed a mean absolute error (MAE) of 0.59 years and a root mean squared error (RMSE) of 0.55 years, compared with reference bone age, and showed similar accuracy to that of an experienced pediatric endocrinologist (rater 1). Prediction of final adult height by the AI program showed an MAE of 4.62 cm, compared with the actual final adult height. CONCLUSION: We developed a bone age estimation program based on a deep learning algorithm. The AI-derived program demonstrated high accuracy in estimating bone age and predicting the final adult height of Korean children and adolescents.
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Inteligencia Artificial , Aprendizaje Profundo , Niño , Adolescente , Humanos , Adulto , Determinación de la Edad por el Esqueleto/métodos , Radiografía , AlgoritmosRESUMEN
Background: Adolescents have weekday/weekend sleep discrepancies and may compensate for weekday sleep debt through sleep extension on weekends. Objective: We investigated the effects of total sleep duration on weekdays/weekends on obesity and determined if weekend catch-up sleep has an ameliorating effect on obesity in Korean adolescents. Methods: Using data from the KNHANES VII, 1,306 middle and high school students were assessed for total sleep duration on weekdays, weekends, and the entire week, as well as weekend sleep extension. Participants were classified into four groups according to weekend sleep extension. Results: Total sleep duration and weekend sleep duration were negatively associated with body mass index z-score. Increased weekend sleep duration and sleep extension on weekends decreased the relative risk of overweight/obesity with each 30â min increment, reducing the risk by a factor of 0.39 and 0.93, respectively. The risk of overweight/obesity in adolescents who slept less than 6â h on weekdays increased by a factor of 1.93 when they slept for less than 3â h on weekends. Conclusion: Weekend catch-up sleep had a negative dose-dependent association with obesity in Korean adolescents. Sleeping longer on weekends may be associated with a decreased risk of obesity, even if the adolescent obtains less sleep during weekdays. However, further prospective studies are needed to establish the causality between extended weekend sleep and obesity.
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CONTEXT: Somapacitan is a long-acting GH derivative for treatment of GH deficiency (GHD). OBJECTIVE: Evaluate the efficacy and tolerability of somapacitan in children with GHD after 2 years of treatment and after the switch from daily GH. DESIGN: A randomized, multinational, open-labelled, controlled parallel group phase 3 trial, comprising a 52-week main phase and 3-year safety extension (NCT03811535). SETTING: Eighty-five sites across 20 countries. PATIENTS: A total of 200 treatment-naïve prepubertal patients were randomized and exposed; 194 completed the 2-year period. INTERVENTIONS: Patients were randomized 2:1 to somapacitan (0.16 mg/kg/wk) or daily GH (0.034 mg/kg/d) during the first year, after which all patients received somapacitan 0.16 mg/kg/wk. MAIN OUTCOME MEASURES: Height velocity (HV; cm/year) at week 104. Additional assessments included HV SD score (SDS), height SDS, IGF-I SDS, and observer-reported outcomes. RESULTS: HV was sustained in both groups between 52 and 104 weeks. At week 104, mean (SD) for HV between weeks 52 and 104 was 8.4 (1.5) cm/year after continuous somapacitan treatment and 8.7 (1.8) cm/year after 1 year of somapacitan treatment following switch from daily GH. Secondary height-related endpoints also supported sustained growth. Mean IGF-I SDS during year 2 was similar between groups and within normal range (-2 to +2). Somapacitan was well tolerated, with no safety or tolerability issues identified. GH patient preference questionnaire results show that most patients and their caregivers (90%) who switched treatment at year 2 preferred once-weekly somapacitan over daily GH treatment. CONCLUSIONS: Somapacitan in children with GHD showed sustained efficacy and tolerability for 2 years, and after switching from daily GH. Patients/caregivers switching from daily GH expressed a preference for somapacitan. CLINICAL TRIAL REGISTRATION: NCT03811535.
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Enanismo Hipofisario , Hormona de Crecimiento Humana , Humanos , Niño , Factor I del Crecimiento Similar a la Insulina , Hormona de Crecimiento Humana/efectos adversos , Hormona del Crecimiento/uso terapéutico , Trastornos del Crecimiento/tratamiento farmacológico , Enanismo Hipofisario/tratamiento farmacológico , EstaturaRESUMEN
Introduction: Depression is one of the major concerns in adolescence, with a global prevalence of approximately 5%. Diverse environmental factors can affect the development of depression depending on the individual developmental stage. Methods: Using data from the Korea National Health and Nutrition Examination Survey (KNHANES), we aimed to investigate the association between socioeconomic factors and mental health in a population of non-clinically ill adolescents in Korea totaling 6,261 adolescents aged 12-18 years. Results: Drinking, smoking, stress, depressed mood, suicidal ideation in adolescents, and stress, depressed mood, and suicidal ideation in mothers were identified as factors associated with adolescent depression. In addition to depressed mood and suicidal ideation, the higher perception of stress in mothers was related to higher stress perception, depressed mood, and suicidal ideation in adolescents. The association of adolescents' mental health with fathers' mental health was weaker than that with mothers' mental health. Additionally, increased smoking and drinking were commonly reported in adolescents with higher stress perception, depressed mood, and suicidal ideation. Discussion: We conclude that close monitoring of mental health is required for adolescents with drinking and smoking habits and mothers with mental health problems.
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BACKGROUND/OBJECTIVES: An increase in obesity prevalence may lead to an increase in the HOMA-IR value. This study aimed to investigate changes in age- and sex-specific homeostasis model assessment of insulin resistance (HOMA-IR) values among South Korean adolescents, using data from the Korean National Health and Nutrition Examination Survey (KNHANES) IV, V, and VIII conducted between 2007-2010 and 2019-2020. SUBJECTS/METHODS: Overall, 4621 adolescents aged 10-18 years were evaluated, including 3473 from the 2007-2010 dataset and 1148 from the 2019-2020 dataset. The mean HOMA-IR values and percentile curves were evaluated by age, sex, and weight status. RESULTS: The mean HOMA-IR values peaked at puberty in both sexes and further increased during puberty in the 2019-2020 dataset (boys 5.21, 95% confidence interval [CI] 4.16-6.26; girls 5.21, 95% CI 3.09-7.33) compared with the 2007-2010 dataset (boys 3.25, 95% CI 3.04-3.47; girls 3.58, 95% CI 3.31-3.85). Both groups (with normal-weight and overweight/obesity) exhibited a peak HOMA-IR value during puberty in both sexes and both datasets, although the group with overweight/obesity had a higher and wider peak age range. While the mean HOMA-IR values did not change in adolescents with normal-weight, they increased during puberty and post-puberty in boys with overweight/obesity. CONCLUSIONS: HOMA-IR values should be interpreted considering sex, weight status, and pubertal stages. In particular, during the pubertal period, insulin resistance (IR) can coexist not only due to weight-related factors but also as a result of the distinct hormonal changes characteristic of puberty. Over the 10-year period, the mean HOMA-IR values increased in the group with overweight/obesity during puberty and post-puberty, highlighting the need for active intervention to prevent metabolic complications in adolescents with overweight/obesity.
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Homeostasis , Resistencia a la Insulina , Obesidad Infantil , Humanos , Masculino , Femenino , Adolescente , República de Corea/epidemiología , Factores Sexuales , Factores de Edad , Peso Corporal , Niño , Incidencia , Encuestas Nutricionales , Obesidad Infantil/epidemiologíaRESUMEN
Introduction: Suicide is the leading cause of death among Korean adolescents. Suicide has been found to be associated with body mass index (BMI), height, and subjective body image among adults, but investigations of these associations among adolescents are limited. Thus, we aimed to examine to what extent suicide ideation is associated with height, BMI, and subjective body image among Korean adolescents. Methods: This study examined the data of 6,261 adolescents, selected from a nationally representative survey. The participants were divided into subgroups by sex, suicide ideation, and subjective body image. Logistic regression analyses were performed to examine the association of suicide ideation with height, BMI, and subjective body image. Results: The proportion of perceived obesity was high in the total sample; the height Z-score was lower for the group with suicide ideation than the group without suicide ideation; the height Z-scores were also lower for female participants with suicide ideation than those female participants without suicide ideation. The proportions of depressed mood, suicide ideation, and suicide attempts were higher among the total sample and female participants with perceived obesity than among those with a normal body image. On logistic regression, perceived obesity was positively associated with suicide ideation even after adjusting for age, height Z-score, weight Z-score, and depressed mood, whereas height Z-score was negatively associated with suicide ideation. These relationships were more prominent among female participants than among male participants. Conclusion: Low height and perceived obesity, not real obesity, are associated with suicide ideation among Korean adolescents. These findings indicate that the need for an integrated approach to growth, body image, and suicide in adolescents is warranted.
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BACKGROUND: Patients with 5-α-reductase type 2 deficiency (5αRD2) require androgen treatment for the growth of normal male external genitalia. Since limited research has been conducted on the effects of androgen treatment on height in individuals with 5αRD2, we investigated the effect of androgen treatment on bone age (BA) and the height status in children with 5αRD2. METHODS: Of the 19 participants who were followed up for an average of 10.6 years, 12 received androgen treatment. BA and height standard deviation scores (SDS) were compared between the treatment and non-treatment groups, as well as between the dihydrotestosterone (DHT) and testosterone enanthate (TE) treatment groups. RESULTS: Despite the above-average height of the 19 patients with 5αRD2, the height SDS relative to BA (htSDS-BA) was below average, particularly in the androgen treatment group. DHT treatment did not lead to an increase in BA or htSDS-BA, whereas TE treatment resulted in BA advancement and decreased htSDS-BA, especially in the prepubertal period. CONCLUSIONS: DHT treatment is more favorable for height than TE treatment in patients with 5αRD2, particularly during the prepubertal period. Therefore, age and the type of androgen used should be carefully considered to minimize the risk of height reduction in these patient groups.
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Insulin-like growth factor binding protein-3 (IGFBP-3) has been known to inhibit cell proliferation and exert tumor-suppressing effects depending on the cell type. In this study, we aimed to show that IGFBP-3 induces cellular senescence via suppression of the telomerase activity, thereby inhibiting MCF-7 breast cancer cell proliferation. We found that the induction of IGFBP-3 in MCF-7 cells enhanced the loss of cell viability. Flow cytometry revealed a higher percentage of non-cycling cells among IGFBP-3-expressing cells than among controls. IGFBP-3 induction also resulted in morphological alterations, such as a flattened cytoplasm and increased granularity, suggesting that IGFBP-3 induces a senescence-like phenotype. The percentage of IGFBP-3 expressing cells with senescence-associated ß-galactosidase activity was 3.4 times higher than control cells. Telomeric repeat amplification and real-time PCR showed that IGFBP-3 decreased telomerase activity by reducing the levels of the RNA component (hTR) and catalytic protein component with reverse transcriptase activity (hTERT) of telomerase in a dose-dependent manner. These results suggest that IGFBP-3 is a negative regulator of MCF-7 breast cancer cell growth by inducing senescence through telomerase suppression.
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Neoplasias de la Mama , Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina , Telomerasa , Femenino , Humanos , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Proliferación Celular , Senescencia Celular , Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina/genética , Células MCF-7 , ARN , Telomerasa/genética , Telomerasa/metabolismoRESUMEN
OBJECTIVE: Growth hormone (GH) dosage in children is conventionally determined either by body weight (BW) or body surface area (BSA). However, there is no consensus on the calculation method for proper GH treatment dose. We aimed to compare growth response and adverse reactions between BW- and BSA-based GH treatment doses for children with short statures. DESIGN: Data from 2284 GH-treated children were analyzed. Distributions of BW- and BSA-based GH treatment doses and their association with growth response parameters, including changes in height, height standard deviation score (SDS), body mass index (BMI), and safety parameters, such as changes in insulin-like growth factor (IGF)-I SDS and adverse events, were investigated. RESULTS: The mean BW-based doses were close to the recommended dose's upper limit in participants with GH deficiency and idiopathic short stature, while they were below the recommended dose in patients with Turner syndrome (TS). As age and BW increased, BW-based dose decreased, whereas BSA-based dose increased. Gain in height SDS was positively associated with BW-based dose in the TS group and negatively associated with BW in all groups. Despite having a lower BW-based dose, the overweight/obese groups had a higher BSA-based dose and higher frequencies of children with high IGF-I and adverse events than those of the normal-BMI group. CONCLUSIONS: In children of older age or with high BW, BW-based doses can be overdosed in terms of BSA. and BW-based dose positively correlated with height gain only in the TS group. BSA-based doses represent an alternative dosing strategy in children who are overweight/obese.
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Enanismo Hipofisario , Hormona de Crecimiento Humana , Síndrome de Turner , Humanos , Niño , Hormona del Crecimiento , Sobrepeso/tratamiento farmacológico , Estatura , Factor I del Crecimiento Similar a la Insulina/metabolismo , Peso Corporal , Enanismo Hipofisario/tratamiento farmacológico , Síndrome de Turner/tratamiento farmacológico , Obesidad/tratamiento farmacológico , Trastornos del Crecimiento/tratamiento farmacológicoRESUMEN
PURPOSE: We aimed to investigate the prevalences of obesity, abdominal obesity, and non-alcoholic fatty liver disease (NAFLD) among children and adolescents during the coronavirus disease 2019 (COVID-19) outbreak. MATERIALS AND METHODS: This population-based study investigated the prevalences of obesity, abdominal obesity, and NAFLD among 1428 children and adolescents between 2018-2019 and 2020. We assessed the prevalences of obesity, abdominal obesity, and NAFLD according to body mass index, age, sex, and residential district. Logistic regression analyses were performed to determine the relationships among obesity, abdominal obesity, and NAFLD. RESULTS: In the obese group, the prevalence of abdominal obesity increased from 75.55% to 92.68%, and that of NAFLD increased from 40.68% to 57.82%. In age-specific analysis, the prevalence of abdominal obesity increased from 8.25% to 14.11% among participants aged 10-12 years and from 11.70% to 19.88% among children aged 13-15 years. In residential district-specific analysis, the prevalence of both abdominal obesity and NAFLD increased from 6.96% to 15.74% in rural areas. In logistic regression analysis, the odds ratio of abdominal obesity for NAFLD was 11.82. CONCLUSION: Our results demonstrated that the prevalences of abdominal obesity and NAFLD increased among obese Korean children and adolescents and in rural areas during the COVID-19 outbreak. Additionally, the prevalence of abdominal obesity increased among young children. These findings suggest the importance of closely monitoring abdominal obesity and NAFLD among children during COVID-19, focusing particularly on obese young children and individuals in rural areas.
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COVID-19 , Enfermedad del Hígado Graso no Alcohólico , Adolescente , Humanos , Niño , Preescolar , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Obesidad Abdominal/complicaciones , Obesidad Abdominal/epidemiología , Prevalencia , COVID-19/epidemiología , Obesidad/epidemiología , Índice de Masa Corporal , República de Corea/epidemiologíaRESUMEN
PURPOSE: Patients with Turner syndrome (TS) have distinct neurocognitive and psychosocial characteristics. However, few clinical studies have reported neuropsychological findings in Korean patients. This study investigated the neurocognitive and psychosocial profiles of Korean children with TS. METHODS: This retrospective cross-sectional study analyzed 20 pediatric patients (<18 years) with TS at the Department of Pediatric Endocrinology at Yonsei University Severance Children's Hospital in South Korea from January 2016 to March 2019. We selected 20 age- and sex-matched controls from among those who visited the endocrinology clinic and were confirmed to have no clinical abnormalities. All participants underwent several neuropsychological tests. RESULTS: In the Korean Wechsler Intelligence Scale for Children-IV test, the Full-Scale Intelligence Quotient of the TS group was within the normal range. The Perceptual Reasoning Index, Working Memory Index, and Processing Speed Index scores were significantly lower in the TS group than in the control group. In contrast, the Verbal Comprehension Index did not differ significantly between the groups. The Comprehensive Attention Test results showed that the TS group displayed borderline visual selective attention. The social quotient score was significantly lower in the TS group than in the control group. CONCLUSION: Pediatric patients with TS in Korea displayed distinct neurocognitive and psychosocial characteristics. Patients in the TS group maintained their verbal function, but their attention, visuospatial function, and social competence were low. Our findings will contribute to the development of education programs for patients with TS to improve their neurocognitive and psychosocial functioning.
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PURPOSE: There are no definite guidelines on the optimal dosage of gonadotropin-releasing hormone (GnRH) agonist for treatment of central precocious puberty (CPP). We compared growth outcomes of GnRH agonist at different dosages in girls with idiopathic CPP to assess the optimal dosage. METHODS: This retrospective study included 86 girls with idiopathic CPP who had been treated with GnRH agonist for at least one year and had attained their final adult height. Leuprolide was given as fixed dosage (3.75 mg every 4 weeks in body weight >20 kg, n=72) or weight-based dosage (60-85 µg/kg every 4 weeks, n=14). We compared suppression of advanced puberty and treatment response between the 2 groups. RESULTS: Peak estradiol and luteinizing hormone and bone age (BA)/chronological age after injection of GnRH agonist were effectively suppressed in both groups. In both groups, the height standard deviation score (SDS) for BA increased after treatment. Final adult height (FAH) (fixed dosage group,160.8±4.1 cm and weight-based dosage group, 161.2±4.4 cm) was significantly higher than the initial predicted adult height (PAH) (155.5±3.3 and 156.1±3.6 cm, respectively) (both P<0.001) and similar to midparental height (159.8±3.3 and 160.6±3.7 cm, respectively). There were no differences in gain in height SDS for BA and gain in height (FAH-PAH at the start) between the 2 groups. CONCLUSION: There were no differences in treatment outcome between fixed dosage (3.75 mg/4 wk) and weight-based dosage (60-85 µg/kg/4wk) of GnRH agonist. Therefore, a fixed dosage of GnRH agonist can be used more conveniently for CPP treatment without growth oversuppression.
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The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 isozyme (SRD5A2) has been determined. Therefore, the present study retrospectively evaluated the genotype-phenotype correlation from a structural perspective in 19 Korean patients with 5αRD2. Additionally, variants were classified according to structural categories, and phenotypic severity was compared with previously published data. The p.R227Q variant, which belongs to the NADPH-binding residue mutation category, exhibited a more masculine phenotype (higher external masculinization score) than other variants. Furthermore, compound heterozygous mutations with p.R227Q mitigated phenotypic severity. Similarly, other mutations in this category showed mild to moderate phenotypes. Conversely, the variants categorized as structure-destabilizing and small to bulky residue mutations showed moderate to severe phenotypes, and those categorized as catalytic site and helix-breaking mutations exhibited severe phenotypes. Therefore, the SRD5A2 structural approach suggested that a genotype-phenotype correlation does exist in 5αRD2. Furthermore, the categorization of SRD5A2 gene variants according to the SRD5A2 structure facilitates the prediction of the severity of 5αRD2 and the management and genetic counseling of patients affected by it.
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3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa , Hipospadias , Humanos , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Estudios de Asociación Genética , Hipospadias/genética , Proteínas de la Membrana/genética , Mutación , Oxidorreductasas/genética , Estudios RetrospectivosRESUMEN
During the coronavirus disease 2019 (COVID-19) outbreak, the prevalence of obesity increased globally; this may be associated with hypertension incidence. However, investigations on the changes in the prevalence of hypertension among children and adolescents are limited. This cross-sectional study investigated the prevalence of hypertension among 1428 youths aged 10-18 years using data from the Korea National Health and Nutrition Examination Survey 2018-2020. We assessed the prevalence of hypertension according to sex, age, body mass index (BMI), and residential district. The prevalence of hypertension increased from 7.1% to 12.5% in all participants. In the sex-specific analysis, the prevalence was found to be increased in boys. In the age-specific analysis, the prevalence was found to be increased in youths aged 13-15 years. In the BMI-specific analysis, an increase in the prevalence was prominent in the normal BMI group. In the residential district-specific analysis, the prevalence of hypertension among youth increased in urban areas. Our results show that the prevalence of hypertension increased among Korean children and adolescents during the COVID-19 outbreak. These findings suggest the importance of close monitoring of hypertension among youth during the COVID-19 pandemic.