High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

BACKGROUND: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence. METHOD: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained. RESULTS: Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies. CONCLUSIONS: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

Inflammation in metabolically healthy and metabolically abnormal adolescents: The HELENA study.

BACKGROUND AND AIMS: Inflammation may influence the cardio-metabolic profile which relates with the risk of chronic diseases. This study aimed to assess the inflammatory status by metabolic health (MH)/body mass index (BMI) category and to assess how inflammatory markers can predict the cardio-metabolic profile in European adolescents, considering BMI. METHODS AND RESULTS: A total of 659 adolescents (295 boys) from a cross-sectional European study were included. Adolescents were classified by metabolic health based on age- and sex-specific cut-off points for glucose, blood pressure, triglycerides, high density cholesterol and BMI. C-reactive protein (CRP), tumor necrosis factor alpha (TNF-α), interleukin (IL-6), complement factors (C3, C4) and cell adhesion molecules were assessed. RESULTS: Metabolically abnormal (MA) adolescents had higher values of C3 (p < 0.001) and C4 (p = 0.032) compared to those metabolically healthy (MHy). C3 concentrations significantly increased with the deterioration of the metabolic health and BMI (p < 0.001). Adolescents with higher values of CRP had higher probability of being in the overweight/obese-MH group than those allocated in other categories. Finally, high C3 and C4 concentrations increased the probability of having an unfavorable metabolic/BMI status. CONCLUSIONS: Metabolic/BMI status and inflammatory biomarkers are associated, being the CRP, C3 and C4 the most related inflammatory markers with this condition. C3 and C4 were associated with the cardio-metabolic health consistently.

Recomendaciones del Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica sobre hábitos de alimentación para la prevención de la obesidad y los factores de riesgo cardiovascular en la infancia / Recommendations of the Spanish Paediatric Endocrinology Society Working Group on Obesity on eating habits for the prevention of obesity and cardiovascular risk factors in childhood

La obesidad infantil determina un riesgo elevado de enfermedad cardiovascular. Este artículo realiza una actualización sobre el papel que los factores dietéticos tienen sobre el desarrollo y la prevención de la obesidad en este grupo de edad. Según la evidencia científica, las recomendaciones recogidas son: promover el consumo de hidratos de carbono de absorción lenta y disminuir aquellos con índice glucémico alto, evitar el consumo de bebidas azucaradas, limitar el consumo de grasas a un 30% de las calorías totales diarias y el de grasas saturadas a un 7-10%, reducir la ingesta de colesterol, evitar durante el primer año las fórmulas con alto contenido proteico, aumentar la ingesta de fibra, reducir el aporte de sodio y realizar al menos 4 comidas al día evitando el consumo regular de comida rápida y de snacks

Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks

[Recommendations of the Spanish Paediatric Endocrinology Society Working Group on Obesity on eating habits for the prevention of obesity and cardiovascular risk factors in childhood]. / Recomendaciones del Grupo de Trabajo de Obesidad de la Sociedad Española de Endocrinología Pediátrica sobre hábitos de alimentación para la prevención de la obesidad y los factores de riesgo cardiovascular en la infancia.

Childhood obesity is associated with a high risk of cardiovascular disease and early mortality. This paper summarises the currently available evidence on the implications of dietary factors on the development and prevention of obesity in paediatric patients. Evidence-based recommendations are: promote the consumption of slowly absorbed carbohydrates and reduce those with a high-glycaemic-index, avoid intake of sugar-sweetened beverages. Fat may provide up to 30-35% of the daily energy intake and saturated fat should provide no more than 10% of daily energy intake; reduce cholesterol intake, avoid formula milk with a high protein content during the first year; promote higher fibre content in the diet, reduce sodium intake, and have at least four meals a day, avoiding regular consumption of fast food and snacks.

Epidemiología de la diabetes mellitus tipo 1 en menores de 15 años en España / Epidemiology of type 1 diabetes mellitus in children in Spain

INTRODUCCIÓN: Los estudios epidemiológicos sobre diabetes mellitus tipo 1 (DM1) realizados en múltiples países y regiones han contribuido al conocimiento de la epidemiología de la enfermedad en menores de 15 años. En España se han realizado estudios en casi todas las comunidades autónomas, si bien las cifras de incidencia a nivel nacional no son todavía bien conocidas. MATERIAL Y MÉTODOS: Revisión bibliográfica de las publicaciones y comunicaciones sobre epidemiología de la DM1 en menores de 15 años en España. Se han seleccionado las referencias que aportasen datos de pacientes menores de 15 años. RESULTADOS: Se han encontrado estudios en casi todas las comunidades autónomas. La metodología de los estudios realizados es heterogénea, encontrando diferencias en cuanto al ámbito de realización, duración, periodo estudiado, límite superior de edad y método de recogida de datos. Las tasas de incidencia comunicadas varían desde los 11,5 casos/100.000 habitantes-año en Asturias hasta los 27,6 de Castilla-La Mancha. En ocasiones se especifica el porcentaje de casos que presentan cetoacidosis diabética en el momento del diagnóstico, habitualmente en el rango del 25-40%. CONCLUSIONES: En España se han realizado múltiples estudios epidemiológicos de DM1 en menores de 15 años, con una metodología heterogénea. La incidencia media de DM1 en menores de 15 años en España estimada en base a los estudios revisados sería de 17,69 casos/100.000 habitantes-año. Creemos conveniente mantener los registros de DM1 en funcionamiento y crearlos en aquellas comunidades autónomas donde no existen, así como unificar en lo posible la metodología utilizada de cara a obtener datos precisos sobre la epidemiología de la DM1 en España y conocer la evolución de la incidencia de la enfermedad en los próximos años

INTRODUCTION: Epidemiological studies in many regions and countries have contributed to determining the epidemiology of type 1 diabetes (T1DM) in children less than 15 years old. Studies in many regions of Spain have been published, but the national incidence is not really known. MATERIAL AND METHODS: A review was made of the publications on the epidemiology of T1DM in Spain, selecting the references on patients less than 15 years old. RESULTS: Many epidemiological studies on T1DM in almost all regions in Spain have been published. The methodology of these studies is heterogeneous, with variations in geographical definition, duration, period of study, limit of age, and data collection. The incidence rates are variable, from 11.5 cases per 100,000/year in Asturias to 27.6 in Castilla-La Mancha. Some studies report the percentage of diabetic ketoacidosis at the time of diagnosis, which is usually in the range of 25-40%. CONCLUSIONS: Although there have been various epidemiological studies on T1DM in almost all regions in Spain, the methodology is heterogeneous. The mean incidence of T1DM in children less than 15 years old in Spain, stimated from the selected studies is 17,69 cases per 100,000/year. T1DM registers need to be created and updated, using standardized methodology, to get more reliable data of the epidemiology of T1DM in Spain in the near future

[Epidemiology of type 1 diabetes mellitus in children in Spain]. / Epidemiología de la diabetes mellitus tipo 1 en menores de 15 años en España.

INTRODUCTION: Epidemiological studies in many regions and countries have contributed to determining the epidemiology of type 1 diabetes (T1DM) in children less than 15 years old. Studies in many regions of Spain have been published, but the national incidence is not really known. MATERIAL AND METHODS: A review was made of the publications on the epidemiology of T1DM in Spain, selecting the references on patients less than 15 years old. RESULTS: Many epidemiological studies on T1DM in almost all regions in Spain have been published. The methodology of these studies is heterogeneous, with variations in geographical definition, duration, period of study, limit of age, and data collection. The incidence rates are variable, from 11.5 cases per 100,000/year in Asturias to 27.6 in Castilla-La Mancha. Some studies report the percentage of diabetic ketoacidosis at the time of diagnosis, which is usually in the range of 25-40%. CONCLUSIONS: Although there have been various epidemiological studies on T1DM in almost all regions in Spain, the methodology is heterogeneous. The mean incidence of T1DM in children less than 15 years old in Spain, stimated from the selected studies is 17,69 cases per 100,000/year. T1DM registers need to be created and updated, using standardized methodology, to get more reliable data of the epidemiology of T1DM in Spain in the near future.

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

The disorders caused by mutations in genes encoding subunits and accessory proteins of cohesin complex are collectively termed as cohesinopathies. The best known cohesinopathy is Cornelia de Lange Syndrome (CdLS), which is a multisystem developmental disorder characterized by facial dysmorphism, limb malformations, growth and cognitive impairment. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), are responsible for ∼ 70% of CdLS cases. We describe a 16-year-old boy with facial dysmorphism, growth retardation, intellectual disability, hirsutism and small hands, who has a small Supernumerary Marker Chromosome (sSMC) present in mosaic form. sSMC is composed of two duplicated segments encompassing 17 genes including SMC1A gene, at the regions Xp11.22 and Xp11.21q11.1. Clinical comparison between our patient with a previously reported individual with a SMC1A duplication and four male carriers of similar sSMC reported in databases, suggest that they all share clinical features related to cohesinopathies. Although our patient does not have the classical CdLS craniofacial phenotype, he has pre and postnatal growth retardation, intellectual disability and mild musculoskeletal anomalies, features commonly seen in patients with cohesinopathies.

Abdominal fat and metabolic risk in obese children and adolescents

No disponible

The aim of this study was to investigate fat distribution, mainly abdominal fat, and its relationship with metabolic risk variables in a group of 126 children and adolescents (60 males and 66 females) aged 5.0 to 14.9. According to IOTF criteria, 46 were classified as normal weight, 28 overweight and 52 obese. Weight, height, waist (WC) and hip circumferences were measured. The body mass index (BMI) was calculated. Total body fat, trunkal and abdominal fat were also assessed by dual energy x-ray absorptiometry (DXA). Glucose, insulin, HDL-Cholesterol, triglycerides (TG), ferritine, homocystein and C-reactive protein (CRP) were measured. Obesity status was related with insulin concentrations, CRP, TG and HDL. Obese patients had higher abdominal fat and higher CRP values than overweight and normal subjects. All markers of central body adiposity were related with insulin and lipid metabolism; however, they were not related with homocystein or ferritin. A simple anthropometric measurement, like waist circumference, seems to be a good predictor of the majority of the obesity related metabolic risk variables (AU)

Serum transaminases concentrations in obese children and adolescents.

The aim of the study was to investigate the relationship between liver transaminase levels and metabolic syndrome (MS) features in obese children and adolescents. A total of 132 children and adolescents (73 males and 59 females) aged 8 - 16, participated in the study. All were studied at the department of Paediatrics, University Hospital of Zaragoza (Spain). Inclusion criteria were the existence of obesity as defined by body mass index (BMI) according to Cole cut-off values (when BMI was higher than the age and sex specific equivalent to 30 kg/m2). The definition of metabolic syndrome was according to the International Diabetes Federation criteria. Weight (kg), height (cm), waist circumference (cm), blood pressure and BMI were measured. Laboratory determinations after overnight fasting included: transaminases (ALT, AST, GGT), fasting glucose, insulin, triglycerides and HDL-C. The MS was found in 21.6% of the obese children and adolescents and the prevalence was higher in males (25.9%) than in females (15.9%). Serum transaminases (ALT, AST and GGT) mean concentrations were higher in males than in females, and decreased during pubertal development. The obese children and adolescents with the MS did not show higher transaminases concentrations when compared with those without the MS. Some MS manifestations (mainly waist circumference) showed a correlation with ALT, although all transaminases values were normal according to adult references. Liver transaminases, a surrogate marker of NAFLD, did not show an early and consistent manifestation of abnormalities in the obese children and adolescents studied. In order to define the presence of the disease, it would be necessary to obtain aminotransferase reference standards for children and adolescents, considering pubertal stage and gender.

Obesidad infantil y síndrome metabólico / Childhood obesity and metabolitic syndrome

Los autores actualizan el concepto de síndrome metabólico en niños y adolescentes, discutiendo los criterios de su definición a propósito de sus datos. A continuación enfatizan sobre la importancia de los nuevos biomarcadores del síndrome y sobre las intervenciones a seguir para mejorar los factores de riesgo cardiovasculares en niños obesos (AU)

The authors up-date the concept of metabolic syndrome in children and adolescents. Discussing the criteria of their definition based on their data. Following that, they stress the importance of the new biomarkers of the syndrome and the interventions to follow to improve the cardiovascular risk factors in obese children (AU)

Concentraciones séricas de transaminasas en niños y adolescentes obesos / Serum transaminases concentrations in obese children and adolescents

The aim of the study was to investigate the relationship between liver transaminaselevels and metabolic syndrome (MS) features in obese children and adolescents.A total of 132 children and adolescents (73 males and 59 females) aged 8 – 16, participatedin the study. All were studied at the department of Paediatrics, UniversityHospital of Zaragoza (Spain). Inclusion criteria were the existence of obesity asdefined by body mass index (BMI) according to Cole cut-off values (when BMI washigher than the age and sex specific equivalent to 30 kg/m2). The definition of metabolicsyndrome was according to the International Diabetes Federation criteria.Weight (kg), height (cm), waist circumference (cm), blood pressure and BMI weremeasured. Laboratory determinations after overnight fasting included: transaminases(ALT, AST, GGT), fasting glucose, insulin, triglycerides and HDL-C. The MSwas found in 21.6% of the obese children and adolescents and the prevalence washigher in males (25.9%) than in females (15.9%). Serum transaminases (ALT, ASTand GGT) mean concentrations were higher in males than in females, and decreasedduring pubertal development. The obese children and adolescents with the MS didnot show higher transaminases concentrations when compared with those withoutthe MS. Some MS manifestations (mainly waist circumference) showed a correlationwith ALT, although all transaminases values were normal according to adult references.Liver transaminases, a surrogate marker of NAFLD, did not show an earlyand consistent manifestation of abnormalities in the obese children and adolescentsstudied. In order to define the presence of the disease, it would be necessary to obtainaminotransferase reference standards for children and adolescents, consideringpubertal stage and gender(U)

Se valora en el estudio la concentración de transaminasas en niños y adolescentes obesos y se investiga la relación entre enzimas hepáticas y marcadores de síndrome metabólico (SM). Un total de 132 niños y adolescentes (73 chicos y 59 chicas), de 8-16 años, participaron en el estudio. El criterio de inclusión fue la existencia de obesidad definida mediante el índice de masa corporal (IMC) de acuerdo con los valores de Cole et. al. (IMC mayor que el equivalente a 30 kg/m2 para una edad y sexo específico). Para definir el síndrome metabólico (MS), se eligieron los criterios de la Federación Internacional de Diabetes. Se realizaron medidas del peso (Kg), altura (cm), perímetro de la cintura y tensión arterial y determinaciones de laboratorio en ayunas de las transaminasas (ALT, AST, GGT), glucosa, insulina, triglicéridos y HDL-C. Presentaron síndrome metabólico el 21,6% de los niños y adolescentes obesos y la prevalencia fue mayor en chicos (25,9%) que en chicas (15,9%). Los componentes más frecuentes del síndrome metabólico fueron la obesidad abdominal (exceso de circunferencia de cintura, 93%) y la tensión arterial elevada (34,3%). Los valores medios de las concentraciones séricas de transaminasas (ALT, AST, GGT) fueron mayores en chicos que en chicas, y disminuyeron según el desarrollo puberal(AU)

Los niños y adolescentes obesos con síndrome metabólico no presentaron mayores concentraciones de transaminasas en comparación con los que no tenían síndrome metabólico. Algunas manifestaciones de SM (en particular el perímetro de la cintura) se asociaron con ALT, aunque los valores de transaminasas fueron normales según las referencias usadas para adultos. En los niños estudiados, las transaminasas, un marcador secundario de hígado graso no-alcohólico (NAFLD), no fueron una manifestación temprana y consistente de estas anomalías. Para definir la presencia de la enfermedad, sería necesario obtener valores de referencia de transaminasas para niños y adolescentes, considerando el estadío puberal y el sexo(AU)

Abdominal fat and metabolic risk in obese children and adolescents.

The aim of this study was to investigate fat distribution, mainly abdominal fat, and its relationship with metabolic risk variables in a group of 126 children and adolescents (60 males and 66 females) aged 5.0 to 14.9. According to IOTF criteria, 46 were classified as normal weight, 28 overweight and 52 obese. Weight, height, waist (WC) and hip circumferences were measured. The body mass index (BMI) was calculated. Total body fat, trunkal and abdominal fat were also assessed by dual energy x-ray absorptiometry (DXA). Glucose, insulin, HDL-Cholesterol, triglycerides (TG), ferritine, homocystein and C-reactive protein (CRP) were measured. Obesity status was related with insulin concentrations, CRP, TG and HDL. Obese patients had higher abdominal fat and higher CRP values than overweight and normal subjects. All markers of central body adiposity were related with insulin and lipid metabolism; however, they were not related with homocystein or ferritin. A simple anthropometric measurement, like waist circumference, seems to be a good predictor of the majority of the obesity related metabolic risk variables.

Adolescente con hipertiroidismo secundario a tiroiditis de Hashimoto diagnosticada en la fase hipertiroidea. Dificultades diagnósticas / An adolescent with hyperthyroidism secondary to Hashimoto thyroiditis diagnosed in the hyperthyroid phase. Diagnostic difficulties

No disponible

Síndrome metabólico en la infancia / Metabolic syndrome in childhood

No disponible

Detección de factores de riesgo cardiovascular en niñoscon obesidad nutricional / Detection of cardiovascular risk factor in children with nutritional obesity

La obesidad infantil representa en la actualidad un importante problema para la Salud Pública en los países desarrollados, como es el caso de España. En la práctica diaria, será importante la detección de aquellos niños que presenten riesgo de tener complicaciones cardiovasculares en la edad adulta, por esta razón se deben intentar identificar los factores de riesgo cardiovascular en dicha población. A pesar de que el uso del índice de masa corporal (IMC) estaría indicado únicamente para el screening de la obesidad, en la actualidad se acepta su uso para el diagnóstico clínico, en función de los valores de IMC referidos a cada edad y sexo. Parece importante utilizar los estándares internacionales publicados recientemente, que fijan unos valores equiparables a los 25 y 30 kg/m2 utilizados en adultos. Para valorar el riesgo de complicaciones se podría utilizar el perímetro de la cintura. Aquellos niños que presenten obesidad, según el IMC, y una medida del perímetro de la cintura superior al percentil 75, deberían beneficiarse de una exploración completa del riesgo cardiovascular que incluiría la medida de la tensión arterial y determinación de glucosa, insulina y perfil lipídico completo (AU)

Síndrome de Kabuki / Kabuki make-up syndrome

El síndrome de Kabuki o de Niikawa-Kuroki es una enfermedad que reúne determinadas características clínicas específicas. En este artículo se describe una paciente diagnosticada a los 13 años que asocia las manifestaciones cardinales del síndrome: retraso mental moderado, retraso del crecimiento posnatal, alteraciones morfológicas en las extremidades y rasgos dismórficos faciales específicos. Al cuadro se añade una malformación genital (útero bicorne unicolli) que no se ha comunicado previamente en la bibliografía entre el espectro de las malformaciones viscerales asociadas al Síndrome. (AU)

Análisis de parámetros analíticos y terapéuticos, y complicaciones encontradas en pacientes diabéticos diagnosticados de cetoacidosis / Retrospective analysis of several laboratory values and therapeutic parameters and of the complications observed in diabetic children presenting with ketoacidosis

Introducción: La diabetes mellitus tipo 1 es una de las enfermedades crónicas que se producen con más frecuencia en la infancia. La mortalidad global de la cetoacidosis diabética en pediatría se ha estimado en un 1-2 por ciento. En este trabajo se presenta, de manera retrospectiva, nuestra experiencia en el trata-miento de dicha entidad. Pacientes y métodos: Durante los años comprendidos entre 1982 y 1996 se han estudiado 40 pacientes diabéticos, cuyo inicio fue en forma de cetoacidosis. Se ha analizado sexo, edad, cifras plasmáticas de glucosa, BUN (mg/dL), Na, K, bicarbonato, hiato aniónico en miliequivalentes por litro (mEq/L), osmolalidad en miliosmoles por kilogramo (mOsm/kg), pH y tasas de HbA ( por ciento) en el diagnóstico. Además, la cantidad que se aporto de insulina (Ul/kg), líquidos intravenosos (ml/kg), Na, K y bicarbo-nato (mEq/kg) durante las primeras 24 horas. También, el tiempo (horas) en que la glucemia descendió hasta 200 mg/dL, la cetonuria se hizo negativa, el pH ascendió a 7,30 y el bicarbonato alcanzó cifras de 15 mEq/L. El análisis estadístico de las variables cuantitativas se presenta, como media y desviación típica. Resultados: De los 40 pacientes, 24 eran niñas (60 por ciento) y 16 niños (40 por ciento). La edad en el diagnóstico fue de 9,17 ñ 4,18 años. El pH fue de 7,11 ñ 0,13. Los valores de bicarbonato, Na, K, glucosa, BUN, la osmolalidad y el hiato aniónico fueron de 7,8 ñ 4,5; 139,6 ñ 6,4; 4,2 ñ 0,8; 448,6 ñ 134,5; 14,4 ñ 5,3; 297,1 ñ 12,3 y 28,9 ñ 8,9, respectivamente. Las tasas de HbA 1c fueron de 11,8 ñ 2,8.Los aportes de insulina, líquidos, Na y K fueron de 1,52 ñ 0,7; 107,2 ñ 58,51; 7,1 ñ 4,2 y 2,6 ñ 1,6, respectivamente. Veintisiete pacientes recibieron bicarbonato intravenoso a 3,9 ñ 2,2. El tiempo de recuperación de los valores de pH, de bicarbonato y de glucosa fueron de 10,9 ñ 8,7; 10 ñ 7,6, y 11,9 ñ 9,9 horas, respectivamente. La negatividad de la cetonuria se alcanzó en 56,2 ñ 35,8.Comentarios: Con el tratamiento aplicado no hubo ningún fallecimiento. Como complicaciones se observaron 5 hiponatremias, 5 hipocaliemias y una hipernatremia. Tan sólo una paciente presentó edema cerebral (AU)

[Longitudinal and retrospective study of aspects of pubertal development in women with primary congenital hypothyroidism]. / Estudio longitudinal y retrospectivo del desarrollo puberal en mujeres con hipotiroidismo congénito primario.

OBJECTIVE: To study the relationship between certain aspects of puberal development in a group of women with primary congenital hypothyroidism diagnosed before the introduction of neonatal screening programs and in a control group of healthy women. PATIENTS AND MEASUREMENTS: Longitudinal retrospective study of 15 women with primary congenital hypothyroidism and 26 healthy women. Height, chronological and bone age, and growth velocity are expressed in centimeters and centimeters per year, respectively. Bone age was analyzed by the Greulich and Pyle atlas. Bone and chronological age are expressed in decimal year. Statistical data were expressed as the means and as the maximum and minimum standard deviations. The Student-Fisher t-test was used to compare the two groups. RESULTS: 1. Evolution of mean height measurements in the hypothyroid and control group respectively were as follows: 154.565.11 and 156.465.28 for genetic height; 140.065.21 and 138.965.95 in tanner's B2, and 153.763.32 and 155.065.93 at menarche. Final height was 157.863.71 and 158.965.95. The difference between final and genetic height was 3.2564.17 and 2.1664.18. The increase in height after menarche was 4.1261.61 and 3.9261.81. The total increase in height during puberty was 17.7464.32 and 20.4665.30. The percentage of height reached during puberty compared with final height was 11.2462.70 and 12.8263.18. 2. Evolution of mean chronological age was respectively: 11.5761.01 and 10.7561.36 in tanner's B2 P=0.05); 13.48+/-0.88 and 13.18+/-1.12 at menarche, and 16.25+/-1.33 and 14.91+/-1.12 at reaching final height (p=0.01). Time between Tanner's B2and B3, B3and B4and B2and B4were 0.61+/-0.23and 0.98+/-0.60 (p=0.01), 0.71+/-0.33and 0.70+/-0.33, 1.32+/-0.51 and1.65+/-0.70. Time between B2and menarche was 1.92+/-0.55 and 2.46+/-1.05(p=0.05) and between menarche and final height was 2.89+/-1.04 and 1.70+/-0.63 (p=0.001). 3. Evolution of mean bone age measurements was respectively: 10.57+/-1.51 and 10.67+/-1.26 in Tanner's B2, and 13.600.97 and 13.27+/-0.65 at menarche. Development of bone age between Tanner's B2 and B3, B3 and B4 and B2and B4was 1.02,0.60 and 0.91,0.65, 1.12,0.76and 0.96+/-0.59, and 2.13+/-1.29 and 1.74+/-1.04, respectively, and between B2 and menarche it was 3.17+/-1.25 and 2.66+/-1.38.4. Mean growth velocity in real time elapsed between different intervals and in centimeters per year was as follows: between B2 and B3:.05+/-2.09, 5.75+/-2.80 and 8.40+/-1.80, 6.24+/-1.74(p=0.01); between B3 and B4: 4.74+/-1.54, 4.97+/-2.82 and 7.31+/-2.14, 7.14+/-1.68; between B2 and B4: 7.40+/-3.70,0.90+/-4.13 and 7.40+/-2.18, 6.75+/-1.34 and between B2and menarche: 13.62+/-4.41, 15.96+/-5.42and 7.20+/-1.57, 6.90+/-1.27 respectively. CONCLUSIONS: In women with hyperthyroidism puberty was normal, except that onset was delayed, development was faster and the postmenarche growth period was longer than in the control group. Bone maturation and growth velocity were similar in both groups, and both of them reached a normal final height compared with their target height.

Estudio longitudinal y retrospectivo del desarrollo puberal en mujeres con hipotiroidismo congénito primario / Longitudinal and retrospective study of aspects of pubertal development in women with clinically diagnosed primary congenital hypothyroidism

OBJETIVO: Estudiar diferentes aspectos del desarrollo puberal de mujeres afectadas de hipotiroidismo congénito primario diagnosticadas clínicamente, comparando con un grupo control de referencia. PACIENTES Y MÉTODOS: Estudio retrospectivo, longitudinal, formado por 15 pacientes hipotiroideas y 26 normales. Se han valorado diferentes parámetros, como la talla, la edad cronológica y ósea, y la velocidad de crecimiento a lo largo de su desarrollo puberal. Las tallas y las velocidades de crecimiento se han expresado en centímetros y centímetros por año, respectivamente. Las edades óseas se han analizado mediante el atlas de Greulich y Pyle. Las edades cronológicas y óseas se han expresado en años con sus fracciones decimales. Los estadios puberales se han definido según los criterios de Tanner. Los datos estadísticos se presentan como media, desviación standar y máximos y mínimos. Ambas poblaciones se han comparado mediante la prueba de la T de Student-Fisher. Se ha considerado un nivel de significación estadístico cuando se obtenía una p=0,05. RESULTADOS: 1.La evolución de las tallas medias de la población hipotiroidea y control fueron respectivamente las siguientes. Talla genética, 154,5 ± 5,11 y 156,4 ± 5,28. En T2, 140,0 ± 5,21y 138,9 ± 65,95. Al presentar la menarquia, 153,7 ± 3,32 y 155,0 ± 5,93. Sus tallas finales fueron de 157,8 ± 3,71y 158,9 ± 5,95. La diferencia entre la talla final y la genética fue de 3,25 ± 4,17y 2,16 ± 4,18. El incremento de talla tras la menarquia fue de 4,12 ± 1,61 y 3,92, ± 1,81. La ganancia total de talla en la pubertad de 17,74 ± 4,32y 20,4 ± 5,30. El porcentaje de talla alcanzado en la pubertad respecto a la talla final de 11,24 ± 2,70y 12,82 ± 3,18.2. La de las edades cronológicas medias fue respectivamente de 11,57 ± 1,01y 10,75 ± 1,36 en T2 (p=0,05), de 13,48 ± 0,88y 13,18 ± 1,12 al presentar la menarquia, y de 16,25 ± 1,33 y 14,91 ± 1,12 al alcanzar la talla final (p=0,01). El tiempo transcurrido entre los estadios T2 yT3, T3 y T4, y T2 y T4 fue de 0,61 ± 0,23 y 0,98 ± 0,60 (p=0,01), de 0,71 ± 0,33 y 0,70 ± 0,33 y de 1,32 ± 0,51y 1,65 ± 0,70. El transcurrido entre T2 y la menarquia fue de 1,92 ± 0,55 y 2,46 ± 1,05 (p=0,05) y entre la menarquia y la talla final de 2,89 ± 1,04 y 1,70 ± 0,63 (p=0,001). 3. La evolución de las edades óseas de ambas poblaciones fue respectivamente de 10,57 ± 1,51 y 10,67 ± 1,26 en T2, y de 13,60 ± 0,97y 13,27 ± 0,65 al presentar la menarquia. El avance de la edad ósea entre los estadios T2 y T3, T3 y T4, y T2 y T4 fue de 1,02 ± 0,60 y 0,91 ± 0,65, de 1,12 ± 0,76 y 0,96 ± 0,59 y de 2,13 ± 1,29 y 1,74 ± 1,04. Entre T2 y la menarquia fue de 3,17 ± 1,25 y 2,66 ± 1,38. 4. Las velocidades de crecimiento expresadas en centímetros en tiempo real transcurrido y en cm/año entre T2 y T3 fueron de 5,05 ± 2,09, 5,75 ± 2,80 y 8,40 ± 1,80, 6,24 ± 1,74 (p=0,01), respectivamente. Entre T3 y T4, de 4,74 ± 1,54, 4,97 ± 2,82 y 7,31 ± 2,14, 7,14 ± 1,68, respectivamente. Entre T2 y T4, de 9,40 ± 3,70, 10,90 ± 4,13, y 7,40 ± 2,18, 6 ± 75,1,34. Entre T2 y la menarquia de 13,62 ± 4,41, 15,96 ± 5,42 y 7,20 ± 57, 6,90 ± 1,27. CONCLUSIONES: Las mujeres hipotiroideas desarrollan una pubertad normal, salvo que la inician más tardíamente, es algo más rápida, y tienen un crecimiento posmenarquia más prolongado que la población testigo. La maduración ósea y la velocidad de crecimiento son similares en ambas poblaciones y las dos consiguen una talla final normal en relación con su talla genética (AU)