[Adult height of children with idiopathic short stature treated with growth hormone therapy]. / Estatura final en niños con talla baja idiopática tratados con hormona del crecimiento.

INTRODUCTION: Idiopathic short stature (ISS) is defined as a height of < or = 2 standard deviations (SD) from the mean for age. The use of Growth Hormone (GH) in ISS is controversial, and there are not results for adult height (AH) in Chilean patients with ISS treated with GH. The objective of the study is to compare AH in patients treated with GH with the height prediction at beginning of treatment. PATIENTS AND METHOD: AH was considered with bone age ≥ 17 in males and ≥15 in females. The height SD according to the NCHS curves at beginning and ending of treatment were used for the comparison. Height prediction (HP) was calculated by Bayley-Pinneau method. RESULTS: AH was reached by 18/47 patients with ISS treated with GH. Initial height -2.1 ± 0.85 SD (133.1±6.8 cm) and HP -1.94±0.86 SD, and were treated since 11.6 ± 1.2 years old. After one year of treatment their height was -1.64 ± 0.69 SD, and AH was -1.28 +/- 0.62 SD (163.76 +/- 7.22 cm). CONCLUSION: It is suggested that treatment with GH for ISS is effective to increase AH. Although with wide individual variability, a mean increase of 0.67±0.9 SD (+2.67 cm) was obtained in the AH. This is the first report on Adult Height in Chilean patients.

Growth hormone treatment in pediatrics: What can we improve?

OBJECTIVES: To analyze the age at which treatment with growth hormone (GH) is started in the different indications approved in our country, as well as to assess the response to it and detect points of improvement. MATERIAL AND METHODS: A descriptive, observational and retrospective study of pediatric patients receiving GH treatment in December 2020 and monitored in the pediatric Endocrinology Unit of a tertiary care hospital. RESULTS: A total of 111 patients (52 females) were included in the study. The mean age at the start of treatment was 6.6 years old, being delayed in all diagnostic groups with respect to what is approved for each indication. The indication for which they most frequently received treatment was GH deficiency (n = 60, 54%). In this diagnostic group, there is a predominance of males (39 boys vs 21 girls, and a significantly greater increase in height z score (greater height SDS) is observed in those with early start of treatment compared to those who start late (greaterheight SDS 0.93 vs 0.6; P < .05). All diagnostic groups presented a greater height SDS and height velocity. No adverse effects were observed in any patient. CONCLUSION: GH treatment is effective and safe for the approved indications. The age of initiation of treatment is a point to improve in all indications, especially in SGA patients. For this, good coordination between primary care pediatricians and pediatric endocrinologists is essential, as well as specific training to identify early signs of different pathologies.

Frequency of malnutrition in children and adolescents with child maltreatment.

Introduction: Introduction: child maltreatment (CM) can have a negative impact on physical and mental health in childhood and throughout life. Objective: to determine the frequency of malnutrition in cases of CM from the Clínica de Atención Integral al Niño Maltratado (CAINM) of the Instituto Nacional de Pediatría (INP), Mexico. Material and methods: this was a cross-sectional, retrospective, descriptive study of children with CM. Height/age, weight/height, and body mass index/age were used to determine malnutrition status (undernutrition and overweight or obesity). The frequency of malnutrition by age group and sex were compared using X2 tests. The prevalence of malnutrition at CAINM was compared to that expected in Mexico (ENSANUT-2012), serving as a reference for children without CM, using one-sample Poisson tests. Results: of the 117 cases, 41 % presented wasting or overweight/obesity, and 25 % were growth-stunted. Neither wasting nor stunting displayed any difference between age groups (p > 0.05). Overweight/obesity was observed more frequently in adolescents than in schoolchildren (p < 0.05). Being overweight or obese was most frequently associated with sexual abuse, and wasting and stunting were most often associated with neglect. Compared to the population without CM, the group under 5 years of age had a higher prevalence of wasting (p < 0.01), and those aged 5 to 11 years had a higher prevalence of both wasting and stunting (p < 0.001). Conclusions: CM cases were characterized by acute undernutrition and stunting as well as by adolescents who were overweight or obese. Malnutrition in the pediatric population should be analyzed from a wider perspective, including possible CM.

Introducción: Introducción: el maltrato infantil (MI) puede afectar la salud física y mental en la niñez y a largo plazo. Objetivo: determinar las frecuencias de mala nutrición en casos de MI de la Clínica de Atención Integral al Niño Maltratado (CAINM), perteneciente al Instituto Nacional de Pediatría de México. Métodos: estudio transversal, retrospectivo y descriptivo. Se utilizaron los cocientes de peso/talla, talla/edad e IMC/edad. Las frecuencias de mala nutrición (desnutrición y sobrepeso/obesidad) se compararon entre los grupos de edad y sexo a través de la prueba del X2. Utilizando pruebas de Poisson para una sola muestra se compararon las prevalencias de la mala nutrición con las esperadas en México (ENSANUT-2012). Resultados: de los 117 casos de MI, el 41 % presentaban emaciación o sobrepeso/obesidad, y el 25 % talla baja. Ni por emaciación ni por talla baja hubo diferencias entre los grupos de edad (p > 0,05). La frecuencia del sobrepeso/obesidad fue mayor en los adolescentes que en los escolares (p < 0,05). En el grupo de abuso sexual destacó el sobrepeso/obesidad; en el de negligencia, la emaciación y la talla baja. En comparación con las prevalencias de los niños sin MI, los niños < 5 años tuvieron prevalencias más altas de emaciación (p < 0,01); los de 5 a 11 años, de emaciación y talla baja (para ambas, p < 0,001). Conclusiones: los niños con MI se caracterizaron por desnutrición y talla baja, así como también por sobrepeso/obesidad en los adolescentes. La mala nutrición en las poblaciones pediátricas debe analizarse desde una perspectiva amplia, incluido el posible maltrato infantil.

Longitudinal study of the newborn small for gestational age. Growth recovery and conditioning factors.

Introduction: Background: small-for-gestational-age (SGA) newborns present a higher morbidity and mortality rate when compared to infants born appropriate for gestational age (AGA), as well as insufficient growth, with height far from their target and in some cases a low final height (< -2 SDs). Objective: the aim of this study was to determine when catch-up growth (CUG) in height occurs in these children, and which factors are associated with lack of CUG. Material and methods: this is a retrospective study of SGAs born between 2011 and 2015 in a secondary hospital. Anthropometric measurements were taken consecutively until CUG was reached, and fetal, placental, parental, newborn, and postnatal variables were studied. Results: a total of 358 SGAs were included from a total of 5,585 live newborns. At 6 and 48 months of life, 93.6 % and 96.4 % of SGAs achieved CUG, respectively. By subgroups, symmetric SGAs performed worse than asymmetric SGAs with CUG in 84 % and 92 % at 6 and 48 months of life, respectively. The same occurred in the subgroup of preterm SGAs with respect to term SGAs, with worse CUGs of 88.2 % and 91.2 % at 6 and 48 months of life, respectively. Prematurity, symmetrical SGA, intrauterine growth retardation (IUGR), preeclampsia, previous child SGA, perinatal morbidity, and comorbidity during follow-up were associated with absence of CUG. Conclusions: the majority of SGAs had CUG in the first months of life. The worst outcomes were for preterm and symmetric SGAs.

Introducción: Antecedentes: el recién nacido pequeño para la edad gestacional (PEG) presenta mayor morbimortalidad que el recién nacido con peso adecuado (PAEG), así como un crecimiento insuficiente con talla alejada de la talla diana y, en algunos casos, talla final baja (< -2 DE). Objetivo: el objetivo de este estudio fue determinar en qué momento se produce el crecimiento compensador (CUG) de la talla en estos niños y conocer qué factores se asocian a la falta de dicho crecimiento compensador. Material y métodos: estudio retrospectivo de los recién nacidos PEG entre los años 2011 y 2015 en un hospital secundario. Se tomaron medidas antropométricas de forma consecutiva hasta alcanzar el CUG y se estudiaron las variables fetales, placentarias, parentales, neonatales y posnatales. Resultados: se incluyeron 358 PEG de un total de 5585 recién nacidos vivos. A los 6 y 48 meses de vida alcanzaron el CUG el 93,6 % y 96,4 % de los PEG, respectivamente. Por subgrupos, los PEG simétricos obtuvieron peores resultados que los PEG asimétricos, con CUG del 84 % y 92 % a los 6 y 48 meses de vida, respectivamente. Lo mismo ocurrió en el subgrupo de PEG prematuros respecto de los PEG a término, con CUG peores del 88,2 % y 91,2 % a los 6 y 48 meses de vida, respectivamente. La prematuridad, el PEG simétrico, la restricción del crecimiento intrauterino, la preeclampsia, tener un hijo previo PEG, la morbilidad perinatal y la comorbilidad durante el seguimiento se asociaron a la ausencia de CUG. Conclusiones: la mayoría de los PEG alcanzaron el CUG en los primeros meses de vida. Los peores resultados fueron para los PEG prematuros y simétricos.

[Noonan syndrome: genetic and clinical update and treatment options]. / Síndrome de Noonan: actualización genética, clínica y de opciones terapéuticas.

Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. Because of this shared mechanism, these conditions have been collectively termed «RASopathies¼. Despite the recent advances in molecular genetics, nearly 20% of patients still lack a genetic cause, and diagnosis is still made mainly on clinical grounds. NS is a clinically and genetically heterogeneous condition, with variable expressivity and a changing phenotype with age, and affects multiple organs and systems. Therefore, it is essential that physicians involved in the care of these patients are familiarised with their manifestations and the management recommendations, including management of growth and development. Data on growth hormone treatment efficacy are sparse, and show a modest response in height gains, similar to that observed in Turner syndrome. The role of RAS/MAPK hyper-activation in the pathophysiology of this group of disorders offers a unique opportunity for the development of targeted approaches.

Clinical response to growth hormone in children with intrauterine growth retardation without catch-up growth in Castilla y León (Spain). / Respuesta clínica al tratamiento con hormona de crecimiento en niños con retraso de crecimiento intrauterino sin recuperación posnatal de talla en Castilla y León.

INTRODUCTION AND OBJECTIVES: Growth hormone (rhGH) is used in children with intrauterine growth retardation without catch-up growth. The Advisory Committee of Castilla y León was implemented in 2010 to watch for consistent application of the criteria for using rhGH. The aim is to assess anthropometric and clinical changes in children treated with growth hormone. PATIENTS AND METHODS: A retrospective, longitudinal study of patients diagnosed with intrauterine growth retardation without catch-up growth in Castilla y León since 2010 who have received treatment for at least 3 years. Changes in anthropometric, clinical, and laboratory parameters were assessed. RESULTS: Forty-three children with a mean age of 6.06 years (58.14%<5 years) were enrolled and treated with a mean dose of 0.038mg/kg/day. A significant increase was seen in height (-3.05 to -1.58SD). Both weight and BMI (14.51 to 15.80kg/m2) increased throughout the study. Growth rate peaked during the first year of treatment (0.74SD). IGF-1 levels increased throughout the study (99.96 to 392.88ng/mL). There were significant increases in glycosylated hemoglobin levels in the first year, and in basal blood glucose and insulin levels during the second year. The LDL/HDL ratio decreased during the study period (1.70 to 1.50). CONCLUSION: Treatment with rhGH promotes growth in children with intrauterine growth retardation. Peak effect occurs in the first 12 months of treatment, and is greater when growth hormone is started before the age of 5 years.

[Human growth hormone and Turner syndrome]. / Hormona de crecimiento y síndrome de Turner.

OBJECTIVE: The evaluation of clinical and analytical parameters as predictors of the final growth response in Turner syndrome patients treated with growth hormone. MATERIAL AND METHODS: A retrospective study was performed on 25 girls with Turner syndrome (17 treated with growth hormone), followed-up until adult height. Auxological, analytical, genetic and pharmacological parameters were collected. A descriptive and analytical study was conducted to evaluate short (12 months) and long term response to treatment with growth hormone. RESULTS: A favourable treatment response was shown during the first year of treatment in terms of height velocity gain in 66.6% of cases (height-gain velocity >3cm/year). A favourable long-term treatment response was also observed in terms of adult height, which increased by 42.82±21.23cm (1.25±0.76 SDS), with an adult height gain of 9.59±5.39cm (1.68±1.51 SDS). CONCLUSIONS: Predictors of good response to growth hormone treatment are: A) initial growth hormone dose, B) time on growth hormone treatment until starting oestrogen therapy, C) increased IGF1 and IGFBP-3 levels in the first year of treatment, and D) height gain velocity in the first year of treatment.

[Study on growth hormone treatment in small for gestational age children]. / Estudio valenciano sobre tratamiento con hormona de crecimiento en pequeños para la edad gestacional.

OBJECTIVE: To analyse the effectiveness of growth hormone (GH) therapy in short-stature children born small for gestational age (SGA) without catch-up growth (height at the beginning of treatment<-2.5 SDS), in Valencia (Spain), between 01/01/2003 and 12/31/2013; and to compare our findings with previously published data. MATERIALS AND METHODS: Anthropometric data from the SGA children were obtained from the database of the «Ministry of Health of Valencia¼. These data were retrospectively reviewed. RESULTS: A total of 115 SGA children, with a mean age of 8.10±2.75 years and height of -3.14±0.59 SDS started treatment (dose: 0.035±0.004mg/kg/day) between January 1st, 2003 and March 31st, 2013. After 2 years of therapy (n=115, age: 10.50±2.72 years) the height SDS was -2.11±0.66; and after 4 years (n = 96, age: 12.65±2.46 years) of -1.76±0.75 SDS. This latest improvement in stature matches ages at which the growth spurt usually occurs. Only 35 out of 115 children reached adult height, although impaired (-2.22±0.86 SDS), and failed to achieve their target height (-1.72 ±0.75 SDS). However, this sub-group grew to near the height of the shorter parent (-1.95 ±1.28 SDS), and 42,9% of these 35 cases increased their stature by more than 1 SDS. CONCLUSIONS: The studied sample did not achieve satisfactory growth results, as in other published series. Our findings might be improved by starting treatment earlier, and with doses individualised according to patient characteristics.

[Turner syndrome: Study of 42 cases]. / Síndrome de Turner: análisis de 42 casos.

BACKGROUND AND OBJECTIVE: Turner syndrome (TS) is characterized by short stature, gonadal dysgenesis, and total or partial loss of X chromosome. PATIENTS AND METHODS: A historical cohorts study of patients with TS≤18 years old followed up in public hospitals in Castilla y Leon was undertaken. RESULTS: Forty-two female patients were included (prenatal diagnosis 11.9%, neonatal diagnosis 14.3%) with current median age 11.9±4.2 years. Short stature was the reason for consultation in 87.1%. Total monosomy of X chromosome was present in 40.5%. The most frequently associated comorbidity was opthalmological (50%), with heart defects in 23.8%. Ninety-three percent were treated with growth hormone (GH), mean age at the beginning of treatment was 7.43±3.4 years and mean height standard deviation was -2.84±1.08. Final height was reached in 10 patients only (mean final height 151.47±6.09cm). Chronological age of puberty induction was 13.2±0.94 years (bone age 12.47±1.17 years). CONCLUSIONS: Short stature was an important clinical sign for the diagnosis of TS, accompanied in some cases by other findings, with good response to GH treatment.

[Safety and efficacy of growth hormone treatment: GeNeSIS study in Spain]. / Seguridad y efectividad del tratamiento con hormona de crecimiento: estudio GeNeSIS en España.

INTRODUCTION: Country-specific information on pediatric GH therapy is available from multi-national studies. METHODS: A total of 1294 children in Spain enrolled in the observational Genetics and Neuroendocrinology of Short-stature International Study (GeNeSIS). Adverse events were assessed in all GH-treated patients (n=1267) and effectiveness in those with GH deficiency (GHD, 78%). RESULTS: Mean age at time of entry to the study was 9.8 years. GH was initiated at a median (Q1-Q3) 0.22 (0.20-0.25) mg/kg/week and administered for 2.8 (1.6-4.4) years. For 262 patients with GHD and 4-year data, mean (95% CI) height velocity was 4.3 (4.1 - 4.6) cm/year at baseline, 9.0 (8.7 to 9.4) cm/year at 1-year, and 5.5 (5.2 to 5.8) cm/year at 4-years. Height standard deviation score (SDS) was -2.48 (-2.58 to -2.38) at baseline and -1.18 (-1.28 to -1.08) at 4 years. Final height SDS minus target height SDS (n=241) was -0.09 (-0.20 to 0.02). In 1143 GH-treated patients with ≥1 year follow-up, 93 (8.1%) reported treatment-emergent adverse events. Serious events were reported for 7 children, with 2 considered GH-related. CONCLUSION: These data confirm the benefit of GH replacement therapy on height gain for the patients in Spain. The safety profile was consistent with that already known for GH therapy.

Prevalencia de talla baja en niños y adolescentes de nueveentidades federales de Venezuela / Stunting Prevalence in Children and Adolescents of NineVenezuelan Federal Regions

Introducción: La talla baja de origen nutricional es una manifestación de la carencia sostenida de nutrientes cuando el niño está en su fase de crecimiento. En Venezuela,que está enfrentando una crisis político económica en la cual hay insuficiencia alimentaria, no existen cifras oficiales del problema. El objeto del trabajo es presentar información a cerca de cuál es la prevalencia actual del problema. Métodos:Se realiza un estudio descriptivo observacional de 16.155 niños evaluados antropométricamente en escuelas municipales,comedores comunitarios y jornadas comunitarias en áreas vulnerables de 9 estados de Venezuela durante el año 2019.La data fue recolectada por voluntarios que trabajaban con organizaciones implementadoras de programas de nutrición a nivel local previamente capacitados. Se almacenó y analizó en la plataforma Digisalud de acuerdo a los patrones de referencia antropométrica del año 2006 de la Organización Mundial de la Salud (OMS). Resultados: la prevalencia observada de talla baja en niños menores de 5 años fue de 20,38%, mientras que la de los mayores de 5 años es de 12,83%. En 6 de los 9 estados estudiados, la prevalencia de talla baja es a expensas de niños menores de 5 años. Conclusiones: Los resultados, si bien no son representativos de la población venezolana, sí pretenden arrojar luces de lo que está ocurriendo. Se recomienda seguir recolectando data sistemática, estandarizada y preferiblemente digitalizada para tener información homogénea y comparable dela problemática que se está observando, y así poder dar respuesta a través de acciones concretas, medibles y auditables que generen el impacto deseado(AU)

Introduction: Stunting due to malnutrition is there sult of a chronic shortage of nutrients when children are thriving. Venezuela, due to the political and economic crisisthat is suffering, has a food insecurity problem. But there is not official data about stunting or other health related issues.The purpose of this study is to know the prevalence about stunting. Methods: we did a descriptive observational study of the anthropometric evaluation of 16,155 children less than19 years that attended municipality schools, alimentary centers and health fairs in nine Venezuelan states during the year of 2019. The data were digitally collected by voluntaries previously trained to gather anthropometric measures that worked in the implementing organizations, and it was processed and analyzed by the Digisalud Platform according with the 2006 World Health Organization (WHO) anthropometric reference standards. Results: There was a 20.48% and 12.83% global prevalence of stunting in children less than 5 years and morethan 5 respectively. In six of the nine regions studied stunting in children less than 5 years was observed. Conclusion: Althoughour results are not representative of the Venezuelan population,it shed light to understand this problem. We recommend gathering data in a methodological and standardized way usinga technological tool in order to create a reliable database. The analysis and use of this information will generate concrete,measurable and accountable actions for creating the desired impact(AU)

Turner syndrome: From birth to adulthood.

BACKGROUND: Turner syndrome is characterized by a great variability of clinical manifestations caused by a total or partial loss of X-chromosome. PATIENTS AND METHODS: A retrospective, descriptive study of the diagnosis, course, and current status of patients with Turner syndrome followed up at our section over the past 40 years, based on review of medical records supplemented with a telephone survey. RESULTS: Forty-five female patients with a current mean age of 22.95years (range 2-38) and a mean age at diagnosis of 4.71 were included. Sixty-three percent of them showed a mosaic karyotype. Short stature was the most common reason for consultation (54%), with increased prenatal diagnosis in most recent cases. Seventy-two percent have been treated with growth hormone, together with oxandrolone in 26%. Final stature was short in 69% of patients. Gonadal failure was found in 66%; most of whom received replacement therapy. Three patients achieved pregnancy by oocyte donation. The 31 adult patients are mainly monitored by the endocrinology (37.5%) and/or gynecology (34.4%) departments. As regards psychosocial aspects, 22% required support during school, and 80% completed middle to high level education. Two patients died, one due to dissecting aortic aneurysm and the other one, who had multiple pathological conditions, from respiratory failure. CONCLUSIONS: Short stature is the main cause of diagnosis in patients with Turner syndrome; most cases show genetic mosaicism. The most common clinical manifestations include short stature and gonadal failure. Eighty percent of patients complete middle or high education. In adulthood, follow-up is irregular, sometimes scarce, and clearly improvable.

[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012]. / Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012.

BACKGROUND: Patients with Silver-Russell syndrome suffer from severe intrauterine and postnatal growth retardation, relative macrocephaly and body asymmetry, among other characteristics. It is caused by several genetic and epigenetic mechanisms in 11p15.5 in 40% of the cases and maternal uniparental disomy of chromosome 7 in 10%. METHODS: Twenty patients with a diagnosis of Silver-Russell syndrome who were seen at the HIMFG from 1998 to 2012, were evaluated according to international clinical criteria confirming the diagnosis in nine of the subjects. RESULTS: All patients showed intrauterine and postnatal growth retardation and short stature, both considered as major criteria of Silver-Russell syndrome. Relative macrocephaly was present in 78% of the patients and asymmetry in 33%. Other characteristics such as renal tubular acidosis were present > 50% of the cases. CONCLUSIONS: The clinical diagnosis of Silver-Russell syndrome is complex. Short stature is the main reason for seeking medical attention and is helpful in the identification of a differential diagnosis. This situation underlines the importance of growth and development evaluation of all patients and particularly in those with short stature to identify those cases that may require molecular studies, with implications in management, prognosis and genetic counseling.

Talla baja en niños con defectos cardíacos congénitos sometidos a cirugía cardíaca / Short stature among children undergoing cardiac surgery for congenital heart defects

Introducción. Los niños con cardiopatías congénitas (CC) presentan malnutrición por déficit; una posible consecuencia a largo plazo es la talla baja. Objetivo. Describir la presencia de talla baja en niños con CC al momento de su cardiocirugía. Población y métodos. Estudio retrospectivo. Se incluyeron niños sometidos a cardiocirugía con circulación extracorpórea en 2009-2013. Se excluyeron prematuros, con síndromes genéticos u otra enfermedad con compromiso nutricional. Se estudiaron variables demográficas, diagnóstico cardiológico, cirugía de ingreso y evaluación antropométrica según estándares de la Organización Mundial de la Salud; se definió talla baja como ZT/E < -2 desvíos estándar, según sexo. Resultados. Se estudiaron 640niños; 361 varones (el 56,4 %); mediana de edad: 8 meses (RIC: 1,9; 34,6); 66 niños tuvieron > 1 cirugía; 27 de ellos (el 40,9 %), con hipoplasia del ventrículo izquierdo. Fueron CC cianóticas 358 (el 55,9 %), con fisiología univentricular 196 (el 30,6 %). La mediana de ZT/E fue -0,9 (RIC: -1,9; -0,1); presentaron talla baja 135 (el 21,1 %), el 11 % en neonatos y el 24,1 % en mayores de un mes. Se encontró mayor frecuencia de talla baja en reparación completa de canal atrioventricular en 4/6 niños, reparación de tetralogía de Fallot en 15/39, Glenn en hipoplasia del ventrículo izquierdo en 8/25, cierre de comunicación interventricular en 34/103. No se encontró asociación ni diferencia con significación estadística entre talla baja y cianosis ni según fisiología univentricular. Conclusiones. Existe una alta frecuencia de talla baja en niños con CC, con diferencias según el diagnóstico cardiológico y la cardiocirugía realizada.

Introduction. Children with congenital heart diseases (CHDs) suffer from malnutrition because of nutritional deficiencies, being short stature the possible long-term consequence. Objective. To describe the presence of short stature among children undergoing cardiac surgery for CHDs. Population and methods. Retrospective study. Children undergoing cardiac surgery with cardiopulmonary bypass pump between 2009 and 2013 were included. Preterm infants, carriers of genetic syndromes or other disease with nutritional compromise were excluded. Demographic data, type of CHD, admission surgery and anthropometric assessment using the WHO standards were studied. Short stature was defined as lenght/height for age Z score < -2 standard deviations, by sex. Results. A total of 640 children were studied; 361 (56.4 %) were boys; median age: 8 months (IQR: 1.9; 34.6); 66 children underwent > 1 surgery; 27 of them (40.9 %) had hypoplasia of the left ventricle. There were 358 (55.9 %) infants with cyanotic CHDs, 196 (30.6 %) with univentricular physiology. The median HAZ was -0.9 (IQR: -1.9; -0.1); 135 (21.1 %) had a short stature, 11 % of newborn infants and 24.1 % of older than one month old. A higher frequency of short stature was observed in 4 out of 6 children who underwent complete repair of the atrioventricular canal, in 15 out of 39 infants with repair of tetralogy of Fallot, in 8 out of 25 infants with hypoplasia of the left ventricle subjected to Glenn procedure, and in 34 out of 103 with closure of the ventricular septal defect. No association or statistically significant difference was found between short stature and cyanosis or univentricular physiology. Conclusions. There is a high frequency of short stature among children with CHDs, with differences according to the type of CHD and cardiac surgery performed.

Determinación de los niveles séricos de la hormona del crecimiento, antes y después del ejercicio físico en niños, Caja Nacional de Salud. Sucre 2018. / Determination of the serial levels of the hormone of growth, before and after the physical exercise in children, national health box. Sucre 2018

La deficiencia de la hormona del crecimiento (DHC) es un trastorno clínico, caracterizada por una insuficiente producción de hormona del crecimiento. La glándula pituitaria, un órgano pequeño ubicado en la base del cráneo, produce esta hormona. En los niños, la hormona del crecimiento es esencial, para que presenten indicadores normales de crecimiento, fortaleza muscular, ósea y distribución de grasa. También ayuda a controlar el nivel de glucosa y lípidos del cuerpo. Sin suficiente hormona del crecimiento, es probable que el niño crezca lentamente y sea de menor estatura que otros niños de la misma edad y sexo. El objetivo principal fue determinar los niveles séricos de la hormona del crecimiento, antes y después del ejercicio físico, en niños con talla baja, aparentemente sanos de 9-12 años de la Caja Nacional de Salud de Sucre el año 2018. El estudio con enfoque cuantitativo de tipo prospectivo, analítico, longitudinal y cuasi experimental, se realizó en muestras séricas de 21 pacientes. Los métodos teóricos utilizados para el presente estudio fueron: el deductivo, inductivo, análisis, síntesis y el estadístico. Las técnicas empíricas: la observación y la entrevista. El método de laboratorio para el diagnóstico fue por Quimioluminiscencia. En el análisis bi-variado delos resultados obtenidos, inicialmente existe una diferencia estadísticamente significativa con un valor de p=0,383; posteriormente se obtuvieron resultados en el cual no existen diferencias estadísticamente significativas, con un valor p=0,006 y un valor p=<0,001, calculadas por la prueba U de Mann-Whitney. Se concluye que el ejercicio físico en niños con talla baja, aparentemente sanos de 9-12 años, influye en la estimulación de la secreción de la HC, puesto que después de su aplicación y a medida que transcurrió el tiempo se incrementó el nivel sérico de la HC. Por tanto, del 9,52% incremento hasta el 38,09% del valor de referencia

Growth hormone deficiency (DHC) is a clinical disorder, characterized by an insufficient production of growth hormone. The pituitary gland, a small organ located at the base of the skull, produces this hormone. In children, growth hormone is essential, so that they have normal indicators of growth, muscle strength, bone and fat distribution. It also helps control the level of glucose and lipids in the body. Without enough growth hormone, the child is likely to grow slowly and be shorter than other children of the same age and sex. The main objective was to determine serum levels of growth hormone, before and after physical exercise, in children with short stature, apparently healthy 9-12 years of the National Health Fund of Sucre in 2018. The study with focus prospective, analytical, longitudinal and quasi experimental quantitative was performed on serum samples from 21 patients. The theoretical methods used for the present study were: deductive, inductive, analysis, synthesis and statistical. Empirical techniques: observation and interview. The laboratory method for diagnosis was chemiluminescence. In the bi-varied analysis of the results, initially there is a statistically significant difference with a value of p = 0.383; subsequently, results were obtained in which there are no statistically significant differences, with a p-value = 0.006 and a p-value = <0.001, calculated by the Mann-Whitney U test. It is concluded that physical exercise in children with short stature, apparently healthy 9 - 12 years, influences the stimulation of HC secretion, since after its application and as time went by the serum level of the HC. Therefore, from 9.52% increase to 38.09% of the reference value.

Anemia en gestantes con y sin talla baja / Anemia in pregnant women with and without short stature

Introducción: La anemia es un problema de salud pública, más grave durante el embarazo, y no se cuenta con información en mujeres de talla baja. Objetivo: Comparar la proporción de anemia en gestantes con y sin talla baja. Métodos: Estudio trasversal donde se evaluaron 1 555 847 registros de gestantes procedentes del Sistema de Información del Estado Nutricional del Centro Nacional de Alimentación y Nutrición del Instituto Nacional de Salud entre 2009 a 2013, atendidas en establecimientos de salud del Ministerio de Salud del Perú. Se evaluaron gestantes con talla baja (≤140 cm) y anemia (Hb<11 g/dL) con hemoglobina corregida para la altitud. Resultados: El 2,2 por ciento presentó talla baja. El 89,6 por ciento tenía entre 15 a 35 años. Entre las gestantes con talla baja el 30,1-33,7 por ciento tenían anemia, y entre el 25,1 -27,5 por ciento en gestantes sin talla baja. Se asociaron a gestantes con talla baja y anemia, la edad entre 11 a 14 años (RP: 2,2 IC95 por ciento 1,9-2,6), tercer trimestre del embarazo (RP: 1,2 IC95 pr ciento 1,1-1,2), atendida en puesto de salud (RP: 1,3 IC95 por ciento 1,3-1,4), residir en la sierra (RP:2,4 IC95 por ciento 2,3-2,5), del ámbito rural (RP: 1,9 IC95 pr ciento 1,8-2,0), quintil 1 (RP: 2,3 IC95 por ciento 2,2-2,4) y altitud entre 3 001 a 4 000 metros sobre el nivel del mar (RP: 2,5 IC95 por ciento 2,5-2,7). Conclusiones: Las gestantes con talla baja presentan generalmente mayor proporción de anemia que aquellas sin talla baja, y se relaciona principalmente, con la adolescencia y residir en altitudes de la sierra rural y quintil 1 de pobreza(AU)

Introduction: Anemia is a public health problem, more serious during pregnancy, and information in this sense regarding women of short stature is not available. Objective: To compare the proportion of anemia in pregnant women with and without short stature. Methods: A cross-sectional study was carried out in which were used 1 555 847 records of pregnant women from the System of Information on Nutrition Status of the Food and Nutrition Center of the National Health Institute from 2009 to 2013 . These women had been evaluated in health facilities of the Peruvian Ministry of Health. Pregnant women with short stature (≤140 cm) and anemia (Hb<11 g/dL) were evaluated, with hemoglobin corrected for altitude. Results: 2.2 percent presented short stature. 89.6 percent were from 15 to 35 years old. 30.1 to 33.7 percent of the pregnant women with short stature presented anemia, and 25.1 to 27.5 percent of pregnant women without short stature. In this study were enrolled pregnant women with short stature and anemia, age from 11 to 14 years (PR: 2.2 CI 95 percent 1.9-2.6), being in the third trimester of pregnancy (PR: 1.2 CI 95 percent 1.1-1.2), whom were attended at a health post (PR: 1.3 IC95 percent 1.3-1.4), living in the mountains (RP: 2.4 IC95 percent 2.3-2.5), in rural areas (RP: 1.9 IC95 percent 1.8-2.0), quintile 1 (RP: 2,3 IC95 percent 2,2-2,4) and with an altitude from 3 001 to 4 000 meters above the sea level (RP: 2,5 IC95 percent 2.5-2.7). Conclusions: Pregnant women with short stature have a higher proportion of anemia than those without short stature, which is mainly associated with adolescence, living in rural areas of the highlands and with quintile 1 of poverty(AU)

Relación de anemia y talla baja con el diagnóstico de infección por Helicobacter pylori en niños de 6 a 14 años, de enero del 2014 a diciembre del 2016 en el Hospital del Niño Dr. José Renán Esquivel / Relationship of anemia and short stature with the diagnosis of Helicobacter pylori infection in children from 6 to 14 years old, from January 2014 to December 2016 at the Hospital del Niño Dr. José Renán Esquivel

Introducción: La infección por Helicobacter pylori es la enfermedad bacteriana crónica más extendida del mundo y afecta a más de la mitad de la población mundial, con una distribución vinculada con el grado de desarrollo económico de cada país. En la edad pediátrica no existe un cuadro clínico específico de esta infección, puede tener resultados clínicos diversos que incluye no sólo síntomas digestivos sino manifestaciones extradigestivas como anemia por deficiencia de hierro y retraso del crecimiento. La relación entre la infección por Helicobacter pylori, la anemia por déficit de hierro y talla baja ha sido confirmada en múltiples estudios, pero el tema sigue siendo controvertido. Debido a la escasez de estudios sobre esta asociación, particularmente en niños panameños, y el impacto de sus complicaciones a corto y largo plazo en una población tan vulnerable, es de extraordinaria importancia llevar a cabo estudios para mejorar nuestra comprensión de este tema. Material y Métodos: Se realizó un estudio analítico de casos y controles no pareados, retrospectivo. Se incluyeron 158 pacientes (79 casos y 79 controles) del Hospital del Niño Dr. José Renán Esquivel de Panamá, entre enero de 2014 a diciembre de 2016. Se hizo revisión de los expedientes clínicos con autorización del Comité de Bioética del hospital. Los datos demográficos generales y las variables de estudio seleccionadas se obtuvieron de los pacientes sometidos a endoscopia digestiva alta con biopsia gástrica que cumplían los criterios de inclusión. La existencia de una asociación estadística se evaluó con la prueba exacta de Fisher y el odds ratio.Resultados: La edad promedio de ambos grupos fue de 9.75 + 2.75 sin diferencia estadística entre las edades en los grupos. La infección fue más frecuente en el sexo femenino (63%). El dolor abdominal fue la principal indicación para realizar endoscopia. La frecuencia de anemia en los pacientes infectados fue de 31%, mayor a la reportada en países latinoamericanos, pero no se encontró asociación entre anemia e infección por Helicobacter pylori (p= 0.36) al igual que no se encontró asociación con talla baja (p= 0.74). El nivel socioeconómico fue más bajo en los pacientes enfermos (p= 0.01). El test de ureasa presentó especificidad de 100% en nuestro estudio. Conclusiones: No encontramos asociación entre anemia y talla baja con la infección por Helicobacter pylori, pero la frecuencia de anemia es elevada respecto a otros países de Latinoamérica; y el nivel socioeconómico es un factor influyente en el desarrollo de esta infección. Son necesarios estudios longitudinales que puedan evaluar a los pacientes en la evolución de la enfermedad y determinar las alteraciones en los parámetros hematológicos y velocidad de crecimiento.

Introduction: Helicobacter pylori infection is the most widespread chronic bacterial disease in the world and affects more than half of the world population, with a distribution linked to the degree of economic development of each country. In the pediatric age there is no specific clinical picture of this infection. In children, it can have diverse clinical outcomes that include not only digestive symptoms but extra-digestive manifestations such as iron deficiency anemia and growth retardation. The relationship between Helicobacter pylori infection, iron deficiency anemia and short stature has been confirmed in multiple studies, but the issue remains controversial. Due to the scarcity of studies on this association, particularly in Panamanian children, and the impact of its short and long term complications on such a vulnerable population, it is of extraordinary importance to carry out studies to improve our understanding of this topic. Material and Methods: It is a retrospective, analytical, unmatched case and control study involving a total of 158 patients (79 cases and 79 controls) from the Hospital del Niño Dr. José Renán Esquivel, Panamá, between January 2014 to December 2016. Patient records were examined with autorization from the hospital's bioethics committee. General demographic data and the selected study variables were obtained from patients who underwent upper digestive tract endoscopy with gastric biopsy that met the inclusion criteria. The existence of a statistical association was evaluated with Fisher's exact test and odds ratio. Results: The average age of both groups was 9.75 + 2.75 with no statistical difference between the ages in the groups. Infection was more frequent in females (63%). Abdominal pain was the main indication for endoscopy. The frequency of anemia in the infected patients was 31%, higher than that reported in Latin American countries, but no association was found between anemia and Helicobacter pylori infection (p= 0.36), as there was no association with growth retardatin (p= 0.74). The socioeconomic level was lower in the sick patients (p= 0.01). The urease test showed 100% specificity. Conclusions: We did not find an association between anemia and short stature with Helicobacter pylori infection, but the frequency of anemia is high compared to other Latin American countries, and the socioeconomic level is an influential factor in the development of this infection. Longitudinal studies are needed that can evaluate patients in the evolution of the disease and determine the alterations in the hematological parameters and growth rate.

Talla baja e hipotiroidismo en un niño con Síndrome de Nail-Patella. Reporte de un caso clínico / Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report

Resumen: Introducción: El síndrome de Nail-Patella (NPS) es un desorden autosómico dominante caracterizado por anomalías esqueléticas, displasia ungueal, alteraciones renales y oculares. El diagnóstico se sospecha con la clínica y radiología y se confirma por la identificación de una variante patogénica en el gen LMX1B. El manejo de estos pacientes implica un seguimiento continuo y el tratamiento de las posibles complicaciones ortopédicas, oculares y renales. Objetivo: Describir un caso de NPS con talla baja e hipotiroidismo, asociación que no ha sido descrita en la literatura. Caso clínico: Adolescente de 11 años con talla 130 cm (-2,01 Desviaciones Estándar [DE]) fue referido a Endocrinología a los 2 años de edad por pruebas tiroideas alteradas. Se detectaron uñas displásicas y talla baja despro porcionada, además de anormalidades radiológicas sugerentes de displasia esquelética. Se confirmó hipotiroidismo primario, con anticuerpos negativos y ecografía normal, por lo que se inició trata miento con levotiroxina. El diagnóstico de NPS fue confirmado mediante estudio genético de ADN constatándose una variante patogénica en el gen LMX1B. Su padre presentaba un fenotipo similar, con estatura normal. Su edad ósea era acorde con la cronológica. Tanto el estudio general de talla baja como un test de clonidina para estimulación de GH fueron normales. Conclusión: Presentamos un paciente con NPS confirmado, asociado a talla baja e hipotiroidismo. No hallamos publicaciones en la literatura que describieran esta triple asociación. No se descarta que podría haber una relación entre el NPS y las alteraciones tiroideas halladas en este paciente.

Abstract: Background: Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the identification of a heterozygous pathogenic variant in the LMX1B gene. Management of these patients involves conti nuous follow-up and treatment ofthe orthopedical, ocular and renal problems that mayoccur. Objective: To describe a case of NPS with short stature and hypothyroidism, an association that has not been described in the literature. Case report: An eleven-year-old boy with a height of 130 cm (-2.01 Stan dard Deviations [SD]) was referred to the Endocrine Unit at the age of 2 years due to altered thyroid tests. At that time, dysplastic nails and disproportionate short stature were detected. Radiological abnormalities initially suggested a skeletal dysplasia. A primary hypothyroidism was confirmed, without anti-thyroid antibodies and with a normal thyroid ultrasound. Levothyroxine treatment was initiated. The diagnosis of NPS was confirmed by a genetic study with a single pathogenic variant in the LMX1B gene. His father presented a similar phenotype with normal stature. His bone age was equivalent to his chronological age. Laboratory screening for short stature and a GH stimulation test were normal. Conclusion: We present a child with proven NPS with short stature and hypothyroi dism. We did not find publications that described this triple association. It can't be ruled out that there could be a relationship between NPS and the thyroid alterations found in this patient.

Diagnóstico nutricional en lactantes menores con cardiopatía congénita: comparación de dos clasificaciones antropométricas / Nutritional assessment in infants with congenital heart disease: comparison of two anthropometric classifications

INTRODUCCIÓN: Los niños con cardiopatía congénita (CC) presentan alto porcentaje de malnutrición por déficit, siendo difícil la interpretación de su estado nutricional. OBJETIVO: Describir el estado nutricional de lactantes con CC utilizando dos clasificaciones antropométricas y realizar una comparación entre ellas. PACIENTES Y MÉTODO: Estudio de cohorte no concurrente. Se estudiaron menores de 12 meses sometidos a cirugía de CC. Se excluyeron prematuros, pequeños para la edad gestacional, portadores de síndrome genético u otra enfermedad con compromiso nutricional. Se registraron datos demográficos, diagnóstico de CC, peso y talla de ingreso. Se realizó evaluación nutricional comparando estándares OMS según clasificación norma ministerial (CNM) y una Clasificación Antropométrica Integrada (CAI) que define desnutrición si (ZT/E)≤-2 y/o (ZP/T)≤-2, riesgo de desnutrición ZP/T entre -1 a -1,9, eutrofia ZP/T entre -0,9 a +0,9, sobrepeso entre +1 a +1,9 y obesidad ZP/T≥+2. RESULTADOS: Se incluyeron 387 intervenciones, 219 (56,6%) varones, mediana de edad 3,1 meses (RIC:0,4;6,4). Un 26,4% tenían talla baja. Utilizando CNM 55 sujetos presentaron dos diagnósticos por superposición de ZP/E y ZP/T, con CAI no hubo superposición. Al comparar CNM con CAI se encontró diferencia en desnutrición 28,9% versus 38,5%(p = 0,001), riesgo de des nutrición 27,4% versus 16,3%(p = 0,01) y obesidad 4,9% versus 3,3%(p = 0,03) respectivamente. Se encontró correlación entre ZP/E y ZP/T, r = 0,6(p < 0,001) y entre ZP/E y ZT/E, r = 0,6(p < 0,001). Conclusiones: Los niños con CC presentan alto porcentaje de desnutrición y talla baja. Utilizando las mismas mediciones antropométricas CAI no presentó superposición de diagnósticos y detectó más desnutrición. El P/E es útil como tamizaje, pero insuficiente en malnutrición crónica.

INTRODUCTION: Children with congenital heart disease (CHD) present a high percentage of undern utrition and the interpretation of their nutritional assessment is difficult. OBJECTIVE: To describe the nutritional status of infants with CHD using two anthropometric classifications and compare them. PATIENTS AND METHOD: Non-concurrent cohort study. We studied children under 12 months under going cardiac surgery. We excluded preterm infants, small for gestational age, carriers of genetic syndrome or other disease with nutritional compromise. Demographic data, type of CHD, weight and height were recorded. Nutritional assessment was performed using WHO standards per health ministry criteria (HMC) and per an Integrated Anthropometric Classification (IAC), which defines undernutrition if height-for-age Z-score (ZT/E)≤-2 and/or weight-for-height (ZP/T)≤-2, risk of un dernutrition as ZP/T between -1 to -1,9, normal as ZP/T between -0.9 to +0.9, overweight as ZP/T between +1 to +1.9 and obesity as ZP/T≥+2. RESULTS: 387 interventions were included, 219 (56.6%) were males, median age 3.1 months (IQR:0.4;6.4). A 26.4% presented short stature. Using HMC classification 55 subjects presented two diagnoses by overlap of ZP/E and ZP/T, although with IAC there was no overlap. Comparing HMC with IAC, a difference was found in undernutrition, 28.9% versus 38.5% (p = 0.001), risk of undernutrition 27.4% versus 16.3%(p = 0.01) and obesity 4.9% ver sus 3.3% (p = 0.03) respectively. Correlation was found between ZP/E and ZP/T, r = 0.6(p < 0.001) and between ZP/E and ZT/E, r = 0.6 (p < 0.001). CONCLUSIONS: Children with CHD have a high per centage of undernutrition and short stature. Using the same anthropometric measurements IAC did not present overlapping diagnoses and detected more undernutrition. P/E is useful as screening, but insufficient in chronic undernutrition.

Síndrome de Cornelia de Lange y deficiencias hormonales pituitáricas múltiples, una asociación inusual: Caso clínico / Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association: Clinical case

El síndrome de Cornelia de Lange es una enfermedad genética caracterizada por rasgos faciales distintivos, falla de medro, microcefalia y varias malformaciones asociadas. Sus principales alteraciones endocrinológicas son las anomalías genitales. Se presenta un adolescente de 13 años, tratado por neumonía aspirativa complicada y que presentaba el fenotipo del síndrome de Cornelia de Lange, que incluía retraso global del desarrollo, trastorno de succión-deglución, talla baja y alteración del desarrollo sexual. Su edad ósea era muy retrasada, por lo que se realizó un estudio endocrinológico completo. Se le diagnosticaron hipotiroidismo central, deficiencia de la hormona de crecimiento y deficiencia de hormona luteotrópica y folículoestimulante, compatibles con el diagnóstico de deficiencias hormonales pituitáricas múltiples. Tuvo cortisol basal, hormona adrenocorticotrópica y prolactina normales. Recibió suplencia hormonal tiroidea. Es inusual la asociación de este síndrome con deficiencias hormonales pituitáricas múltiples. Se sugiere la evaluación de los distintos ejes endócrinos en estos pacientes.

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients.