Telarquia precoz en la niñez: causas y estudio / Premature thelarche in childhood: causes and study

Se define Telarquía Precoz como la aparición del botón mamario antes de los ocho años en ausencia de otros signos de pubertad. En los primeros años de vida puede ser secundaria al fenómeno de la minipubertad, mientras que en la etapa escolar podría ocurrir debido a la interacción entre disruptores endocrinológicos y la obesidad. Una parte importante se mantiene estacionaria o revierte, mientras que un pequeño porcentaje puede evolucionar hacia la pubertad precoz. Se debe realizar una anamnesis y examen físico adecuado buscando otros signos puberales, una buena curva de crecimiento y puede complementarse con imágenes y con un seguimiento para intentar determinar aquellas pacientes que evolucionarán hacia la pubertad precoz.

Premature thelarche is defined as the breast bud appearance before eight years, without other signs of puberty development. During the first years of life it can be secondary to the minipuberty phenomenon, while during school period it's usually secondary to the interaction between endocrine disruptors and obesity. Although most of cases remain stable or regresses, a small percentage can evolve to precocious puberty. An appropriate clinical history and physical exam looking for other signs of precocious puberty must be held, complemented with the correspondent follow up and images studies, in order to diagnose patients that will evolve to precocious puberty.

[Clinical and ultrasound features of congenital hypothyroidism]. / Hipotiroidismo congénito: aspectos clínicos y ultrasonográficos.

Congenital hypothyroidism is a condition where a newborn has decreased or absent thyroid function and thyroid hormone production. It is the most common cause of preventable mental retardation and its early diagnosis can only be achieved through systematic neonatal screening because its clinical manifestations are usually late. The etiologic study of this condition relies heavily on nuclear medicine and ultrasound, describing various findings. This research analyzed the characteristics of the ultrasound patterns observed in these children and their correlation with the most common etiologies. The use of ultrasound allows selecting children that require scintigraphic studies, decreasing the use of radiation in neonates.

Hipotiroidismo congénito: aspectos clínicos y ultrasonográficos / Clinical and ultrasound features of congenital hypothyroidism

Congenital hypothyroidism is a condition where a newborn has decreased or absent thyroid function and thyroid hormone production. It is the most common cause of preventable mental retardation and its early diagnosis can only be achieved through systematic neonatal screening because its clinical manifestations are usually late. The etiologic study of this condition relies heavily on nuclear medicine and ultrasound, describing various findings. This research analyzed the characteristics of the ultrasound patterns observed in these children and their correlation with the most common etiologies. The use of ultrasound allows selecting children that require scintigraphic studies, decreasing the use of radiation in neonates.

El hipotiroidismo congénito se define como la condición de déficit de la producción de hormonas tiroideas, que se encuentra presente desde el nacimiento. Corresponde a la causa más común de retardo mental prevenible y su diagnóstico precoz sólo se logra a través de la pesquisa sistemática neonatal, debido a que las manifestaciones clínicas son habitualmente tardías. El estudio etiológico específico se apoya fundamentalmente en la medicina nuclear y el ultrasonido, describiéndose hallazgos variados. Revisamos las características de los patrones ultrasonográficos observados en estos niños y su correlación con las etiologías más frecuentes. El uso de ultrasonografía permite seleccionar los niños que requieren estudio cintigráfico, disminuyendo el uso de radiación en neonatos.

Hipoglicemia infantil / Hypoglycemia of infancy

Hypoglycemia of infancy is a common metabolic disorder that can have serious neurological consequences. Therefore, its early diagnosis and treatment are crucial prognostic factors. Hypoglycemia has a variety of causes and a good clinical history, physical examination and laboratory determination will orient the correct diagnosis. Occasionally a molecular study will be required.

Talla baja idiopática y uso de hormona de crecimiento: documento del consenso de la Sociedad Chilena de Endocrinología y Diabetes / Consensus recommendations of the Chilean Society of Endocrinology an Diabetes on growth hormone use in idiopathic short stature

The diagnosis of idiopathic short stature (ISS) is common among patients with short stature, especially those with a height lower than 2 standard deviations (SD) of the mean. The diagnosis of ISS is considered in children with short stature in whom no recognizable causes are found after a proper evaluation by pediatric endocrinologists. The professional must perform a complete personal and family history, appropriate anthropometry and physical examination and confirm that general and specific laboratory studies including supraphysiological stimuli to measure growth hormone, are normal. Growth hormone (GH) treatment is safe and effective in patients with ISS. Its effects are very similar to those observed in other conditions that affect growth as Turner Syndrome and Small for Gestational Age Short Children. However, treatment is still controversial because ethical, psychological, social, cultural and economic issues, wich are difficult to evaluate, must be taken into account. Individual patient differences and their family environment must also be considered. The hormone is more often indicated to fulfil parent or social environment needs rather than the wish of the patients. Although the treatment is safe, it is not free of complications and its results are often poorer than those expected by patients or their parents. The Chilean Society of Endocrinology and diabetes commissioned a panel of experts among its members, to generate a consensus document on ISS and the use of growth hormone, to provide information and recommendations to the Chilean community.

Hipertiroidismo y síndrome de Down: caso clínico / Hyperthyroidism and Down syndrome: a present diagnosis

A female patient with Down Syndrome and without cardiac defects. During infancy, she had low weight increment secondary to repeated hospital admissions due to obstructive respiratory tract episodes. In addition, she attends regularly to the gastroenterology clinic due to intermittent diarrhea. At the age of 9.4 years-old, she presented liquid stools 5-6 times/day, associated to a decrease of 7 kg in 5 months and marked hyperactivity. She is admitted with tachycardia, arterial hypertension and high liver enzymes (SGOT = 63 U/1 and SGPT = 97U/1). The ECG showed sinus tachycardia. She is discharged without etiological diagnosis. In the mean time, annual thyroid function requested for endocrinology control showed TSH < 0,1 uUI/ml, T3 = 482 ng/dl and total T4 = 15,4 ug/dl, evidencing clear hyperthyroidism and beginning therapy with propylthiouracil 10 mg/kg/day and propanolol 1,3 mg/kg/day. After 3 weeks, the patient showed less hyperactivity, normal stools, normal sleep-awake cycle and recovered weight. By 6 weeks, thyroid hormones and transaminases were within normal ranges.

Objetivo: Describir una asociación poco frecuente de Síndrome de Down con Hipertiroidismo. Caso Clínico: Paciente de sexo femenino, portadora de síndrome de Down, sin antecedentes de cardiopatía congénita. Evolucionó con mal incremento ponderal en el período de lactante, hospitalizaciones repetidas por cuadros respiratorios obstructivos. En control en gastroenterología por episodios de diarrea intermitente, y en genética en forma regular. Cuadro actual se inicia a los 9,4 años, caracterizado por deposiciones líquidas 5-6 veces al día, asociado a baja de peso aproximada de 7 kg en 5 meses e hiperactividad. Se hospitalizó para estudio y se pesquisaron cifras tensionales elevadas y taquicardia. En perfil bioquímico aparece SGOT 63 U/1 y SGTP 97 U/1. Electrocardiograma informa taquicardia sinusal. Alta sin etiología clara, se solicita función tiroidea: TSH < 0,1 uUI/ml, T3 482 ng/dl, T4 total 15,4 ug/dl realizándose diagnóstico de hipertiroidismo. Inició terapia con propiltiouracilo 10 mg/kg/día y propanolol 1,3 mg/kg/día. A las 3 semanas de iniciado el tratamiento, la paciente presenta menor hiperactividad, deposiciones normales, regulación de la hiperactividad y ciclo sueño-vigilia, recuperando peso. A las 6 semanas, los niveles de T3, T4 y transaminasas eran normales. El hipertiroidismo se observa con mucha menor frecuencia que el hipotiroidismo en niños y adultos con síndrome de Down. En series numerosas de pacientes con trisomía 21, se describen en general un bajo porcentaje de casos de hipertiroidismo, dentro de los cuales se incluyen la enfermedad de Graves y la Hashitoxicosis.

Hiperplasia suprarrenal no clásica, características clínicas y genéticas / Clinical and genetic features of non classical adrenal hyperplasia

Background: The non classical form of congenital adrenal hyperplasia (NCAH) is increasingly recognized inhyperandrogenic patients, with variable phenotypic expression. Aim: To determine the clinical, hormonal, andgenetic characteristics of a group of patients with NCAH. Patients and methods: The medical records of 57NCAH patients were retrospectively reviewed. The diagnosis was established by basal or post-ACTH-stimulation 17-hydroxyprogesterone (17-OHP) levels >7 ng/mL and > 15 ng/mL, respectively. Patients with post-ACTH 17-OHP levels between 10-15 ng/mL, and with one identified allele o without genetic tests, were consideredas heterozygous. Genotyping for 10 mutations was performed by PCR. Results: The average age of diagnosis was 12.4 +/- 0.9 years. Six patients were male. Pubarche and hirsutism were the clinical signs more frequently described in patients below 10 years of age (25/29) and over 10 years of age (11/24), respectively. A basal 17-OHP > 7 ng/mL was observed in 36 patients; the post ACTH 17-OHP was between 10-15 and > 15 ng/mL in 5 and 17 patients, respectively. Genotype analyses were performed in 38 patients. V281L was carried on approximately 68.4 percent of all alleles and 29 percent of patients carried severe mutations. Only one of five possible carrier patients, was diagnosed as NCAH after the genetic test (V281L/ In2splice). Conclusions: Males with NCAH were apparently sub-diagnosed. Pubarche and hirsutism were the more frequently reported signs. The genetic test is complementary in the diagnosis of NCAH. One third of the patients carried a classic mutation and could have an increased risk to have siblings with Classical CAH.

Insulinoma, presentación y evolución de dos casos clínicos / Insulinoma, evolution and presentation of 2 clinical cases

Insulinoma is a very uncommon tumor in children, with an incidence in adults of 2 per million inhabitants. Clinical manifestations include neuroglycopenic or autonomic manifestations due to hypoglycemia. We describe 2 pediatric patients with insulinoma, characterized by repeated episodes of hypoglycemia associated to high insulin serum levels and presence of a small mass in the pancreas by imaging studies. The diagnosis was very prompt in one case and delayed in the other, emphasizing the need for an appropriate diagnosis of hypoglycemia during childhood.

El insulinoma es un tumor muy infrecuente en la edad pediátrica y la incidencia reportada en adultos es de 2 casos por millón de habitantes. La presentación de la enfermedad consiste en la presencia de síntomas neuroglicopénicos y autonómicos desencadenados por los episodios de hipoglicemia. Se describen dos pacientes con insulinoma esporádico. El cuadro clínico consistió en episodios repetidos de hipoglicemia asociados a niveles aumentados de insulina sérica y a imágenes sugerentes de un tumor pancreático. El diagnóstico fue muy oportuno en uno de los casos y muy tardío en el otro, lo que resalta la necesidad de estar muy alerta ante casos de hipoglicemia durante la niñez.

Factores reguladores de la osificación endocondral / Regulator factors of endochondral ossification

El crecimiento longitudinal ocurre por osificación endocondral. La condrogénesis y osificación requieren de la expresión normal y participación organizada y secuencial de todos los factores sistémicos y locales, que deben actuar en conjunto y durante el tiempo necesario para lograr el óptimo crecimiento longitudinal. Se revisan mecanismos de acción de factores sistémicos y locales y algunas displasias óseas secundarias a mutaciones de factores de regulación de osificación endocondral.

[IGF-I sensitivity in small for gestational age children]. / Sensibilidad a IGF-I en niños pequeños para la edad gestacional.

BACKGROUND: The lack of catch up growth (CUG) in small for gestational age (SGA) children may be related to a reduced sensitivity to insulin growth factor 1 (IGF-I). AIM: To assess the sensitivity to IGF-I in small for gestational age children, measuring basal and post IGF-I nocturnal profile of growth hormone (GH). PATIENTS AND METHODS: We studied 34 prepubertal SGA children aged 4 to 11 years. Twenty three had CUG and 11 did not have CUG. As an IGF-I sensitivity test, nocturnal GH levels were measured every 20 minutes from 23:00 h to 07:00 h, both under baseline conditions and after the administration of a subcutaneous bolus of 1 mg/kg/body weight of the IGF-I + IGFBP-3 complex (Somatokine). RESULTS: At the time of the study, the Z scores for height among children with and without CUG were -1.55 +/- 0.22 and -3.24 +/- 0.28, respectively (p <0.0001). There were no statistical differences between CUG + vs CUG- patients in mean basal GH (6.6 +/- 0.5 and 5.6 +/- 0.6 ng/ml, respectively). After Somatokine administration, mean GH, and the mean GH area under the curve (AUC) decreased significantly in both groups. However, mean overnight GH AUC decreased in all SGA children with CUG, after Somatokine administration, whereas 3 out of 11 SGA children without CUG had an increase in their mean GH AUC in response to Somatokine. CONCLUSIONS: These findings suggest that pituitary sensitivity to IGF-I may be decreased in some SGA children without CUG.

Sensibilidad a IGF-I en niños pequeños para la edad gestacional / IGF-I sensitivity in small for gestational age children

Background: The lack of catch up growth (CUG) in small for gestational age (SGA) children may be related to a reduced sensitivity to insulin growth factor 1 (IGF-I). Aim: To assess the sensitivity to IGF-I in small for gestational age children, measuring basal and post IGF-I nocturnal profile of growth hormone (GH). Patients and methods: We studied 34 prepubertal SGA children aged 4 to 11 years. Twenty three had CUG and 11 did not have CUG. As an IGF-I sensitivity test, nocturnal GH levels were measured every 20 minutes from 23:00 h to 07:00 h, both under baseline conditions and after the administration of a subcutaneous bolus of 1 mg/kg/body weight of the IGF-I + IGFBP-3 complex (Somatokine®). Results: At the time of the study, the Z scores for height among children with and without CUG were -1.55 ± 0.22 and -3.24 ± 0.28, respectively (p <0.0001). There were no statistical differences between CUG + vs CUG- patients in mean basal GH (6.6 ± 0.5 and 5.6 ± 0.6 ng/ml, respectively). After Somatokine® administration, mean GH, and the mean GH area under the curve (AUC) decreased significantly in both groups. However, mean overnight GH AUC decreased in all SGA children with CUG, after Somatokine® administration, whereas 3 out of 11 SGA children without CUG had an increase in their mean GH AUC in response to Somatokine®. Conclusions: These findings suggest that pituitary sensitivity to IGF-I may be decreased in some SGA children without CUG.

Prevalencia de sobrepeso y obesidad en niños que se controlan en pediatría ambulatoria en Clínica Las Condes / Prevalence of overweight (OW) and obesity (O) in children attending the paediatric unit of the Clínica Las Condes

La obesidad infantil ha aumentado en Chile y con ella sus riesgos a largo plazo. Objetivo: Determinar la prevalencia de sobrepeso (SP) y obesidad (O) en niños controlados en un centro privado en Chile (Clínica Las Condes = CLC). Pacientes y Métodos: Estudio prospectivo en un año de 1.310 niños entre 2 y 18 años (51,6 por ciento hombres) de 7,19 ± 4,02 años de edad promedio. Se consignó edad, sexo, antropometría, y se calculó Índice de Masa Corporal (IMC, kg/m2) absoluto y percentil (p) y el porcentaje peso/talla ( por ciento P/T). Resultados: Los pacientes se distribuyeron en 3 grupos etarios: 45,7 por ciento entre 2-5, 29,5 por ciento entre 6-10 y 24,8 por ciento >10 años. Un 66,8 por ciento estaba eutrófico (IMC p10-85), SP 13,9 por ciento (IMC p85-95), O 12 por ciento (IMC > p95) y bajo peso (BP) 7,3 por ciento (IMC < p10), sin diferencias según sexo ni grupo etario. Conclusiones: La prevalencia de BP, SP y O en CLC es similar a la observada en niveles socioeconómicos medio-bajos chilenos. La mayor proporción entre 6-10 años hace indispensable su prevención desde la etapa de lactante.

[Fetal growth restriction and insulin resistance. New findings and review of the literature]. / Restricción del crecimiento fetal e insulinorresistencia. Nuevos hallazgos y revisión de la literatura.

There is a strong association between low birth weight and insulin resistance. The thrifty phenotype hypothesis, which postulates fetal programming for adaptation to an adverse intrauterine environment, resulting in a lower insulin sensitivity in utero, is one of the hypothesis to explain this association. Later in life, syndrome X may develop, featuring hypertension, dyslipidemia, central obesity and type 2 diabetes, associated to an excessive food intake. Our investigation during the first three years of life in a prospective cohort of small (SGA) or appropriate for gestational age newborns, demonstrated that a significant increase of insulin levels is detected in SGA, as early as during the first year of life, but only when catch up growth (CUG) occurs. Orexigenic peptides such as Ghrelin appear to participate in this CUG phenomenon. We also sought to determine whether these associations were observed in individuals born with very low birth weight. We found that in utero as well as postnatal growth rates were independent determinants of insulin sensitivity and secretion. Education about feeding practices and physical activity in SGA children, is a future challenge to prevent the onset of syndrome X in this predisposed population.

Restricción del crecimiento fetal e insulinorresistencia: Nuevos hallazgos y revisión de la literatura / Fetal growth restriction and insulin resistance: New findings and review of the literature

There is a strong association between low birth weight and insulin resistance. The thrifty phenotype hypothesis, which postulates fetal programming for adaptation to an adverse intrauterine environment, resulting in a lower insulin sensitivity in utero, is one of the hypothesis to explain this association. Later in life, syndrome X may develop, featuring hypertension, dyslipidemia, central obesity and type 2 diabetes, associated to an excessive food intake. Our investigation during the first three years of life in a prospective cohort of small (SGA) or appropriate for gestational age newborns, demonstrated that a significant increase of insulin levels is detected in SGA, as early as during the first year of life, but only when catch up growth (CUG) occurs. Orexigenic peptides such as Ghrelin appear to participate in this CUG phenomenon. We also sought to determine whether these associations were observed in individuals born with very low birth weight. We found that in utero as well as postnatal growth rates were independent determinants of insulin sensitivity and secretion. Education about feeding practices and physical activity in SGA children, is a future challenge to prevent the onset of syndrome X in this predisposed population.

Nuevos esquemas de tratamiento con insulina en niños y dolescentes con Diabetes Mellitus tipo 1 (DM1) en un Hospital Público / New schemes of insulin treatment in children and adolescents with type 1 diabetes mellitus attending a Public Hospital

En la última década se ha demostrado la importancia del control glicémico en la prevención de las complicaciones microvasculares de la DM1. Para lograr este objetivo se ha propiciado el uso de esquemas terapéuticos de insulina intensificados. Objetivo: Comunicar los nuevos esquemas terapéuticos que se utilizan en niños y adolescentes con DM1 y sus resultados en el control metabólico. Método: Se evaluaron los esquemas insulínicos utilizados por todos los pacientes < 19 años en control durante 2003, clasificándolos en tratamiento intensificado (doble o triple dosis de NPH o Glargina) o convencional (< 2 dosis/día). Se consignaron las dosis utilizadas, la HbA1c promedio, el resultado del programa educativo (conocimiento de cantidad de hidratos de carbono, intercambio de alimentos, cambio de dosis según ingesta de hidratos de carbono (HdC) y proporción Insulina/ HdC) y se compararon los resultados obtenidos con las distintas modalidades de tratamiento. Resultados: Se estudiaron 69 pacientes con DM1 (36 mujeres), de 12,0 ± 3,7 años (2-19 años), 59,7% púberes. Todos utilizaban una insulina basal (69,2% de la dosis diaria) y otra prandial; 87% de los pacientes requirieron tres o más dosis diarias de insulina y 13% utilizaba esquema convencional de dos dosis de NPH. Los pacientes en tratamiento intensificado recibían tres o cuatro dosis diarias de insulina prandial, con los siguientes esquemas de insulina basal: dos dosis diarias de NPH (28%), glargina (10%) y tres dosis diarias de NPH (49%). 88,4% de los pacientes modificaba la dosis de insulina rápida según la glicemia y 46,4% consideraba la ingesta de HC; 27% conocía la relación HdC/insulina y 79,7% se colocaba refuerzos adicionales de insulina al comer fuera de sus horarios. La HbA1C del grupo fue de 8,6 ± 1,4%; 30,4% de los pacientes logró el objetivo de HbA1c establecido en el programa, sin diferencias respecto al esquema de insulinoterapia basal utilizado. Por análisis de ...

Introduction: During the last decade the importance of glycaemic control in the prevention of microvascular complications of type 1 diabetes mellitus (DM1) has been demostrated. To achieve this goal, different modalities of intensive therapy have been recommended. Objective: To communicate a novel therapeutic modality employed in paedriatric patients and the metabolic control achieved. Methods: All DM patients < 19 years were included. Insulin treatment was consigned and classified as intensive (at least 3 daily doses, 2 or 3 NPH daily doses, or glargin) or conventional (2 or less doses). Number of doses, mean HbA1c during 2003, results of educative programmes were evaluated and compared. Results: 69 patients (36 females) were studied, 59,7% were pubertal, with a mean age of 12,0 ± 3,7 years. All patients used a basal insulin (69,2% daily dose) and a prandial insulin. Intensive therapy was used by 87% of children. Patients with multiple daily doses received 3 or 4 inyections of a short or rapid acting insulin. Basal insulin was glargine in 10%, twice daily NPH in 28% and thrice daily in 49%. Patients modified dose according to glucose level occured in 88,4%, and 46,4% considered carbohydrate intake. 27% knew the carbohydrate/insulin ratio and 79,7% used additional insulin when eating extra carbohydrates. The BbA1c was 8,6 ± 1,4% without differences in terms of insulin modality used. 30,4% achieved the proposed goals of HbA1c. The total and basal insulin usage correlated with the HbA1c. Conclusions: Multiple modalities of insulin therapy are available, no difference in metabolic control between the modalities was detected. We have achieved very good control in 30% of the patients, only insulin daily dose and basal dose correlated significatively with HbA1c.

Estudio clínico molecular de pacientes chilenas con síndrome de McCune-Albright / Clinical and molecular study of Chilean patients with McCune-Albright Syndrome

Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. Patients and methods: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. Results: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. Conclusions: The R201H mutation can be detected in white blood cells, in approximately 70 per cent of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells

Valores de referencia para proteína transportadora de hormona de crecimiento en una población pediátrica normal / Normative values of growth hormone binding protein, GHBP, for a chilean pediatric population

Circulating concentrations of the high affinity growth hormone binding protein (GHBP) may be a marker of GH receptor density as well as GH sensiffvity. Goal: To determine values of GHBP for a normal Chilean pediatric population. Methods : We determined GHBP levels in 73 males and 73 females between 4 to 15.5 years and 4 to 16.8 years respectively, divided in 7 groups according to age and puberal status. Results: The population was normally distributed in weight, height and body mass index (BMI). GHBP activity increased up to Tanner IV in males and Tanner III in females, and decreased slightly thereafter in Tanner V and IV respectively. There was a significant difference between GHBP levels of preschool children and those found in Tanner II to V in both sexes (p<0.05). In adition, we found a positive correlation between GHBP vs weight, height and BMI (p<0.001) in males and females. Conclusion : The availability of this methodology allows us to establish the normative value of GHBP in our population and provides useful information to interpret GH circulating levels in children with growth disorders

Efectos psicosociales de la talla baja causada por deficiencia de hormona del crecimiento / Psychosocial effects of low heigth caused by growth hormone deficiency

La deficiencia de hormona de crecimiento (GH) provoca un severo retraso de crecimiento y una diversidad de efectos multisistémicos. El individuo con deficiencia de GH no tratado obtiene una talla final de alrededor de 4 SD bajo la media, y si es tratada en forma tardía o utilizando dosis de GH insuficientes, su talla final es alrededor de -2 SD bajo la media. El estirón puberal de los niños con deficiencia de GH no tratados es alrededor de la mitad de lo observado en adolescentes normales. En estudios más recientes se ha documentado que si la deficiencia de GH es tratada con dosis adecuadas administradas en forma diaria se obtienen tallas finales de alrededor de -1,0 SD y a veces se puede alcanzar la talla esperada de acuerdo a los antecedentes genéticos de los pacientes. Por lo tanto, el tratamiento con GH de niños deficientes tiende a corregir el déficit de talla de dichos pacientes, pero no existe mucha información sobre las repercusiones psicosociales de dicho tratamiento. En este artículo, revisaremos someramente los efectos multisistémicos de la deficiencia de GH para luego profundizar en el impacto psicosocial de la deficiencia de GH y en su respuesta al tratamiento con dicha hormona

Utilidad de la determinación del factor de crecimiento insulino-simil tipo I (IGF-I) y de su proteína ligante tipo 3 (IGFBP-3) en el diagnóstico de la deficiencia de hormona de crecimiento en niños / Usefulness of the measurement of insulin-like growth factor 1 (IGF-I) and IGF-1 binding protein-3 (IGFBP-3) for the diagnosis of growth hormone (GH) deficiency in children

Background: The diagnosis of GH deficiency (GHD) is based upon the results of GH stimulation tests, which have several drawbacks. Aim: To evaluate the usefulness of IGF-1 and IGFBP-3 for the diagnosis of GHD in prepuberal children. Material and methods: We measured IGF-I and IGFBP-3 in three group of subjects: I. GHD (n:24), height <-2SD for age (Z score, average ñ SD: -4.2 ñ 1.2), growth velocity 7 ng/ml (15.3 ñ 6.9 ng/ml), y III. Normal school children (n:35) with normal heights (-0.17 ñ 0.12 SD) were studied as controls. Results: IGF-1 and IGFBP-3 were significantly lower in GHD than in NGHD and controls (p <0.001), and in NGHD than in C (p <0.001). We defined the normal range of both proteins as ñ 2 SD of the mean of the control group. Using this criteria, IGF-I was low in 21/24 GHD, and in 12/32 NGHD. IGFBP-3 was low in 22/24 GHD, and in 6/32 NGHD. Only 1 GHD patient had both exams in the normal range, suggesting that he is probably NGHD. 4/32 of the NGHD had both exams below normal range, suggesting that they are probably GHD. Conclusions: IGF-1 and IGFBP-3 are important tools for the diagnosis of GHD