Relationship between eating habits, sleep patterns and physical activity and the degree of obesity in children and adolescents.

INTRODUCTION: Childhood obesity is an extremely prevalent pathology and, in order to be able to address it, it is necessary to understand the factors that influence on its genesis and maintenance. We hypothesise that the timing of meals and sleep, the regularity of these throughout the week and a sedentary lifestyle influence the degree of obesity. MATERIAL AND METHODS: We included children and adolescents with obesity who attended a first check-up visit at the Childhood Obesity Unit between January 2018 and February 2020. The data were obtained from a questionnaire on food (36-h intake, frequency of consumption, eating times and habits) and sleep. RESULTS: The degree of obesity was influenced to a greater extent by later meal times and the distribution of calories throughout the day (less at breakfast, more at dinner) than by the total number of calories ingested. In addition, a lower consumption of vegetables was related to a higher degree of obesity. The difference between the hours of sleep at weekends and on weekdays correlated positively with a higher degree of obesity. Finally, the anthropometric data correlated negatively with the number of hours of physical activity. Almost half of the children did not exercise after school. CONCLUSION: In the approach to childhood obesity, it is necessary to include recommendations on the regularity of meal and sleep times, as well as the distribution of calories throughout the day. Additionally, it is necessary to encourage the practice of physical exercise.

Prevalence and risk factors associated with different comorbidities in obese children and adolescents.

INTRODUCTION: Different obesity-related comorbidities already present in childhood, such as: vitamin D deficiency, impaired carbohydrate metabolism, dyslipidaemia, arterial hypertension and non-alcoholic steatohepatitis. In this study, we aim to analyse the prevalence of comorbidities and to determine the predictive factors that affect these comorbidities. MATERIAL AND METHODS: Anthropometric, demographic and biochemical variables were collected from obese patients between six and 18 years of age. Subsequently, a statistical analysis was performed to describe the characteristics of the patients and the prevalence of comorbidities, as well as their predictive factors. RESULTS: A total of 158 obese children (76 boys and 82 girls) with a mean age at diagnosis of 12.48 years and a BMI Z-score of +3.24 SDS were included. The most prevalent comorbidities were vitamin D deficiency (64.2%), insulin resistance (45.1%), dyslipidaemia (32.2%), hyperuricaemia (18.5%) and arterial hypertension (15%). Age, BMI Z-score, percentage of fat mass and male sex have been found to be predictors of these comorbidities. CONCLUSION: Obese children and adolescents have a high prevalence of comorbidities. Once the diagnosis of obesity has been established, it would be very useful to identify early those patients with a higher risk of comorbidities, knowing their relationship with sex, age, BMI Z-score, percentage of fat mass and pubertal stage.

Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato / Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment

Introducción: El hipogonadismo hipogonadotropo congénito (HHC) puede presentarse de manera aislada o acompañado de anosmia o de malformaciones congénitas. Más de 30 genes han sido implicados en la patogénesis de HHC; además, se han descrito varios patrones de herencia asociados a esta entidad. La creciente disponibilidad de técnicas de secuenciación masiva (NGS) ha permitido que aumente el rendimiento diagnóstico del estudio de esta patología. Pacientes y métodos: Evaluamos el rendimiento diagnóstico del estudio mediante NGS de pacientes con HHC, usando la secuenciación del exoma clínico filtrado por paneles virtuales. Además, se analizó si el diseño de estos paneles, basándose en la presencia/ausencia de microsmia/anosmia aumentaban este rendimiento diagnóstico. Resultados: Usando un panel virtual compuesto de 34 genes pudimos confirmar el diagnóstico de HHC en cinco de nueve pacientes (55%). En dos de nueve individuos (22%) estudiados se obtuvieron resultados no concluyentes. La ausencia/presencia de microsmia para la elección de genes a estudiar no mejora el rendimiento diagnóstico. Conclusiones: El abordaje del estudio genético de pacientes con HHC puede variar en función de las técnicas disponibles en cada centro, por lo que la sensibilidad del test utilizado variará, dependiendo si se utiliza secuenciación de paneles, exoma clínico o exoma completo. El análisis de todos los genes relacionados con HHC independientemente de la presencia/ausencia de microsmia pareciera el abordaje con mejor rendimiento. (AU)

Introduction: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. Methods: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. Results: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%). In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. Conclusions: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of every genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach. (AU)

Adult Height in Girls With Idiopathic Premature Adrenarche: A Cohort Study and Design of a Predictive Model.

Introduction: Idiopathic premature adrenarche (IPA) is considered a normal variant of puberty, presenting more commonly in female patients. There are concerns as to whether IPA alters the final height of these girls. Our main objectives were to (a) compare the adult height of girls with IPA against their target height and (b) design a mathematical model to predict adult height at diagnosis in female patients with IPA. Materials and Methods: A cohort study of girls with IPA was conducted from the time of IPA diagnosis until adult height. The following data were collected: target height, perinatal history, anthropometric and biochemical variables and bone age at diagnosis, age at Tanner stage 2 and menarcheal age, and adult height. First, we performed a univariate statistical analysis after which we carried out a multiple linear regression analysis using adult height as the dependent variable. Results: We obtained data from 79 female patients diagnosed with IPA with a mean adult height of 164.6 cm (95% CI: 163.36-165.85 cm). The mean follow-up time was 6.60 years. Average age at Tanner stage 2 was 9.71 years. Mean menarcheal age was 11.64 years. There were no significant differences between target height and adult height. Of the several predictive models designed for these patients, one of them, which included bone age, obtained an R2 value of 71%. Conclusions: Although slightly advanced puberty was observed among the girls with IPA, their adult height was preserved. The use of predictive models of adult height on diagnosis of IPA could facilitate closer follow-up of girls at risk of reduced adult height.

Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.

INTRODUCTION: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. METHODS: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. RESULTS: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%) patients. In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. CONCLUSIONS: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of all genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.

[Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment]. / Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato.

INTRODUCTION: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. METHODS: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. RESULTS: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%). In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. CONCLUSIONS: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of every genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.

Estudio de la asociación de adrenarquia prematura idiopática con la presencia de alteraciones metabólicas y con antecedente de pequeño para edad gestacional / The relationship between metabolic disorders and small for gestational age with idiopathic premature adrenarche

Introducción: Hasta la fecha hay datos contradictorios sobre la relación entre adrenarquia prematura idiopática (API) y el antecedente de pequeño para edad gestacional así como con la presencia de obesidad y otras alteraciones metabólicas. Es nuestra intención estudiar esa posible asociación en una cohorte de niñas con API de nuestro hospital. Pacientes y métodos: Estudio descriptivo transversal que incluyó a niñas diagnosticadas de API en el servicio de Pediatría de la Fundación Jiménez Díaz entre enero de 2007 y mayo de 2015. Se recogieron datos sobre antecedentes familiares, antecedentes personales que incluían datos perinatales así como datos antropométricos y datos bioquímicos al diagnóstico. Resultados: Del total de 76 niñas con API, un 2,7% presentaba antecedente de pequeño para edad gestacional. Utilizando la clasificación del índice de masa corporal según criterios modificados de OMS 2007/Cole 2000, un 11,8% tenían sobrepeso y un 11,8% obesidad al diagnóstico. Según los criterios del Ministerio de Sanidad, un 6,6% presentaban sobrepeso y un 18,4% obesidad. Un 21,2% evidenciaron insulinorresistencia y un 13,95% presentaban dislipidemia. Ninguna de las pacientes cumplía criterios de hipertensión arterial. En el análisis comparativo entre niñas con API que presentaban normopeso frente a las que tenían sobrepeso y obesidad, las segundas presentaban niveles significativamente más elevados de triglicéridos e insulina y más bajos de colesterol HDL. Conclusiones: Las niñas con API estudiadas no presentan mayor porcentaje de pequeño para edad gestacional que la población general. La prevalencia de sobrepeso y obesidad entre las niñas con API no es superior a la de la población de su entorno (AU)

Background: There is still controversy on the relationship between idiopathic premature adrenarche (IPA) and a history of small for gestational age, as well as the concomitant presence of obesity and other metabolic disturbances. An attempt is made to study these potential associations in a cohort of girls with IPA from our hospital. Patients and methods: A descriptive cross-sectional study was conducted that included girls with a diagnosis of IPA from the Paediatric Department of the Fundación Jiménez Díaz (Madrid, Spain) between January 2007 and May 2015. A record was made of family and personal history with perinatal data, as well as anthropometric data and biochemical values at the time of diagnosis. Results: Out of a total of 76 girls with IPA, 2.7% had a history of small for gestational age. When body mass index was analysed according to modified criteria of WHO 2007/Cole 2000, 11.8% were overweight, and 11.8% were obese at diagnosis. Using the criteria set by the Spanish Ministry of Health, 6.6% were overweight and 18.4% obese, with 21.2% of the girls being insulin resistance, and 13.95% having dyslipidaemia. None of them had hypertension. From a comparative analysis between normal and overweight and obesity IPA girls, the latter had significantly higher levels of triglycerides and insulin, a higher HOMA index, and lower levels of HDL cholesterol. Conclusions: IPA girls included in the study do not have a higher prevalence of small for gestational age compared to the general population. Prevalence of overweight and obesity in girls with IPA is not higher than the prevalence in the normal population (AU)

[The relationship between metabolic disorders and small for gestational age with idiopathic premature adrenarche]. / Estudio de la asociación de adrenarquia prematura idiopática con la presencia de alteraciones metabólicas y con antecedente de pequeño para edad gestacional.

BACKGROUND: There is still controversy on the relationship between idiopathic premature adrenarche (IPA) and a history of small for gestational age, as well as the concomitant presence of obesity and other metabolic disturbances. An attempt is made to study these potential associations in a cohort of girls with IPA from our hospital. PATIENTS AND METHODS: A descriptive cross-sectional study was conducted that included girls with a diagnosis of IPA from the Paediatric Department of the Fundación Jiménez Díaz (Madrid, Spain) between January 2007 and May 2015. A record was made of family and personal history with perinatal data, as well as anthropometric data and biochemical values at the time of diagnosis. RESULTS: Out of a total of 76 girls with IPA, 2.7% had a history of small for gestational age. When body mass index was analysed according to modified criteria of WHO 2007/Cole 2000, 11.8% were overweight, and 11.8% were obese at diagnosis. Using the criteria set by the Spanish Ministry of Health, 6.6% were overweight and 18.4% obese, with 21.2% of the girls being insulin resistance, and 13.95% having dyslipidaemia. None of them had hypertension. From a comparative analysis between normal and overweight and obesity IPA girls, the latter had significantly higher levels of triglycerides and insulin, a higher HOMA index, and lower levels of HDL cholesterol. CONCLUSIONS: IPA girls included in the study do not have a higher prevalence of small for gestational age compared to the general population. Prevalence of overweight and obesity in girls with IPA is not higher than the prevalence in the normal population.