Antecedentes y objetivo El índice de masa triponderal (IMT) estimaría mejor que el índice de masa corporal (IMC) el exceso de adiposidad, manteniendo valores estables durante la infancia. Este trabajo pretende determinar la correlación del IMT con marcadores de riesgo metabólico y establecer valores del IMT que se relacionen con un aumento del riesgo metabólico. Material y métodos Estudio multicéntrico, observacional, transversal y prospectivo en menores de 14 años con obesidad. Variables: edad, sexo, estadio puberal, peso, talla, perímetro abdominal, IMC, IMT, glucosa e insulina basales, índice HOMA, presión arterial, perfil lipoproteico, transaminasas y ácido úrico. El IMC y el IMT se expresaron según los valores del estudio longitudinal de Barcelona. Se realizó análisis estadístico con el programa SPSS*. Resultados Se incluyeron 199 pacientes (50,3% varones), con una edad media de 11,08 (2,48) años e IMT de 19,68 (2,36) kg/m3. Se observó correlación del IMT con el perímetro abdominal (r = 0,571; p = 0), la insulina (r = 0,198; p = 0,005), el índice HOMA (r = 0,189; p = 0,008) y el c-HDL (r = −0,188; p = 0,008). El IMT > 20,15 kg/m3 se asoció a insulina ≥ 15 mUI/ml (p = 0,029) y el IMT > 20,36 kg/m3 a c-HDL < 40 mg/dl (p = 0,023). Conclusiones El IMT se correlacionó con el incremento del perímetro abdominal, la insulina y el índice HOMA, y la disminución del c-HDL. El IMT > 20 kg/m3 puede asociarse a elevación de la insulina y a descenso del c-HDL. Por ello, el IMT parece ser un parámetro útil en la valoración de los pacientes pediátricos con obesidad (AU)Background and objective
Triponderal mass index (TMI) would estimate excess adiposity better than body mass index (BMI), maintaining stable values during childhood. This work aims to determine the correlation between TMI and markers of metabolic risk as well as set values of TMI that are related to an increase of metabolic risk. Material and methods Multicenter, observational, cross-sectional and prospective study in children under 14 years of age with obesity. Variables: age, sex, pubertal stage, weight, height, abdominal circumference, BMI, TMI, basal glucose and insulin, HOMA index, blood pressure, lipoprotein profile, transaminases and uric acid. BMI and TMI were expressed according to the values of the Barcelona longitudinal study. Statistical analysis was performed with the SPSS* program. Results One hundred and ninety-nine patients (50.3% male), age 11.08 (2.48) years, TMI 19.68 (2.36) kg/m3. Correlation between TMI and abdominal circumference (r = 0.571; p = 0), insulin (r = 0.198; p = 0.005), HOMA index (r = 0.189; p = 0.008) and HDL-c (r = −0.188; p = 0.008) was observed. IMT > 20.15 kg/m3 was associated with insulin ≥ 15 mIU/ml (p = 0.029) and IMT > 20.36 kg/m3 with HDL-c < 40 mg/dl (p = 0.023). Conclusions TMI was correlated with increase of abdominal circumference, insulin and HOMA index and decrease of HDL-c. IMT > 20 kg/m3 can be associated with increased insulin and decreased HDL-c. Therefore, the IMT seems to be a useful parameter in the assessment of pediatric patients with obesity (AU)
Humans , Male , Female , Child , Insulin Resistance , Metabolic Syndrome , Pediatric Obesity , Biomarkers , Prospective Studies , Risk Factors , Body Mass Index , Cross-Sectional Studies , Longitudinal Studies
BACKGROUND AND OBJECTIVE: Triponderal mass index (TMI) would estimate excess adiposity better than body mass index (BMI), maintaining stable values during childhood. This work aims to determine the correlation between TMI and markers of metabolic risk as well as set values of TMI that are related to an increase of metabolic risk. MATERIAL AND METHODS: Multicenter, observational, cross-sectional and prospective study in children under 14 years of age with obesity. VARIABLES: age, sex, pubertal stage, weight, height, abdominal circumference, BMI, TMI, basal glucose and insulin, HOMA index, blood pressure, lipoprotein profile, transaminases and uric acid. BMI and TMI were expressed according to the values of the Barcelona longitudinal study. Statistical analysis was performed with the SPSS* program. RESULTS: One hundred and ninety-nine patients (50.3% male), age 11.08 (2.48) years, TMI 19.68 (2.36)kg/m3. Correlation between TMI and abdominal circumference (r=0.571; p=0), insulin (r=0.198; p=0.005), HOMA index (r=0.189; p=0.008) and HDL-c (r=-0.188; p=0.008) was observed. IMT>20.15kg/m3 was associated with insulin≥15mIU/ml (p=0.029) and IMT>20.36kg/m3 with HDL-c<40mg/dl (p=0.023). CONCLUSIONS: TMI was correlated with increase of abdominal circumference, insulin and HOMA index and decrease of HDL-c. IMT>20kg/m3 can be associated with increased insulin and decreased HDL-c. Therefore, the IMT seems to be a useful parameter in the assessment of pediatric patients with obesity.
Insulin Resistance , Metabolic Syndrome , Pediatric Obesity , Adolescent , Child , Humans , Male , Female , Longitudinal Studies , Cross-Sectional Studies , Prospective Studies , Body Mass Index , Insulin , Risk Factors
Despite BMP4 signaling being critical to Rathke's pouch induction and maintenance during early stages of pituitary development, its implication in the etiology of combined pituitary hormone deficiency (CPHD) and other clinical presentations of congenital hypopituitarism has not yet been definitely demonstrated. We report here the first CPHD patient with a de novo pathogenic loss-of-function variant in BMP4. A 6-year-old boy, with macrocephaly, myopia/astigmatism, mild psychomotor retardation, anterior pituitary hypoplasia and ectopic posterior pituitary, clinically diagnosed with growth hormone deficiency, and central hypothyroidism, was referred for genetic analysis of CPHD. Targeted NGS analysis with a custom panel (n = 310 genes) identified a novel heterozygous de novo nonsense variant, NM_001202.5:c.794G > A, p.(Trp265*) in BMP4, which introduces a premature stop codon in the BMP4 pro-domain, impairing the transcription of the TGF-ß mature peptide domain. Additional relevant variants in other genes implicated in pituitary development signaling pathways such as SMAD4 and E2F4 (BMP/TGF-pathway), ALMS1 (NOTCH-pathway), and TSHZ1 (Prokineticin-pathway), were also identified. Our results support the implication of the BMP/TGF-ß signaling pathway in the etiology of CPHD and suggest that oligogenic contribution of additional inherited variants may modify the phenotypic expressivity of BMP4 pathogenic variants.
Bone Morphogenetic Protein 4/genetics , Hypopituitarism/genetics , Hypopituitarism/metabolism , Loss of Function Mutation , Signal Transduction , Transforming Growth Factor beta/metabolism , Biomarkers , Bone Morphogenetic Protein 4/metabolism , Child , Genetic Association Studies , Genetic Predisposition to Disease , Genetic Testing , Growth Charts , Heterozygote , Humans , Hypopituitarism/diagnosis , Male , Phenotype
Solo puede asegurarse que la función tiroidea es normal cuando los niveles de hormona estimulante del tiroides y hormonas tiroideas tiroxina y triyodotironina libres son normales. Un patrón hormonal con tiroxina y triyodotironina libres elevadas y hormona estimulante del tiroides no suprimida es muy poco habitual, su principal causa es el síndrome de resistencia a hormonas tiroideas, entidad poco frecuente de causa genética que puede asociar síntomas de hipo e hipertiroidismo y cuyo diagnóstico requiere un alto índice de sospecha. En niños la única o principal manifestación puede ser un trastorno por déficit de atención con hiperactividad. Presentamos una familia caracterizada a partir del diagnóstico inicial de dos hermanas gemelas a los 20 meses de edad
It can only be ensured that thyroid function is normal when thyroid-stimulating hormone and free thyroid hormones thyroxine and triiodothyronine levels are normal. A hormonal pattern with elevated free thyroxine and triiodothyronine and unsuppressed thyroid-stimulating hormone is very rare, and its main cause is thyroid hormone resistance syndrome, a rare genetic entity that can associate symptoms of hypo and hyperthyroidism and whose diagnosis requires a high rate of suspicion. In children, the sole or main manifestation may be an attention deficit hyperactivity disorder. We present a family characterized by the initial diagnosis of twin sisters at 20 months of age
Humans , Female , Infant , Thyroid Hormone Resistance Syndrome/diagnosis , Thyroid Hormones/blood , Growth Disorders/etiology , Thyroid Function Tests/statistics & numerical data , Genetic Diseases, Inborn/diagnosis
La hipoglucemia es uno de los trastornos metabólicos más frecuentes durante la infancia y una manifestación común a diferentes entidades. Se considera hipoglucemia una cifra de glucemia plasmática venosa inferior a 50 mg/dl, cifra por debajo de la cual se debe intervenir para evitar morbilidad y posibles secuelas neurológicas. La sintomatología asociada con la hipoglucemia es más inespecífica cuanto menor es la edad del niño y sus causas difieren según esta; en los menores de dos años y fuera del periodo neonatal las enfermedades metabólicas son una de las etiologías a descartar. Se presenta el caso de un niño de 11 meses en el que se diagnostica una enfermedad metabólica tras presentar una crisis comicial por hipoglucemia en el posoperatorio de una cirugía en el aparato digestivo
Hypoglycemia is one of the most frequent metabolic disorders during the infancy and a common manifestation to different entities. Hypoglycemia is defined as a plasma venous glucose level less than 50 mg/dl, below which it is necessary to intervene to avoid morbidity and neurological sequelae. The symptomatology associated with the hypoglycemia is so much more non-specific the less age the child has and their causes differ according to age, in younger than 2 years and out of the neonatal period inborn errors of metabolism are one of the etiologies to be ruled out. We present the case of a 11-month-old boy who is diagnosed with a metabolic disease after a seizure due to hypoglycemia in the postoperative period of gastrointestinal surgery
Humans , Male , Infant , Hypoglycemia/diagnosis , Hernia, Inguinal/surgery , Herniorrhaphy , Metabolism, Inborn Errors/diagnosis , Meglutol/metabolism , Postoperative Complications/diagnosis , Hernia, Inguinal/complications , Metabolism, Inborn Errors/complications
