RESUMO
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.
Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Puberdade Precoce/diagnóstico , Puberdade Precoce/etiologia , Puberdade Precoce/epidemiologia , Exame Físico , Algoritmos , Disruptores Endócrinos/efeitos adversos , Displasia Fibrosa Poliostótica , Anamnese , Obesidade/complicaçõesRESUMO
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.
Assuntos
Hipotireoidismo Congênito/diagnóstico , Triagem Neonatal/métodos , Cintilografia/métodos , Hipotireoidismo Congênito/diagnóstico por imagem , Hipotireoidismo Congênito/fisiopatologia , Humanos , Recém-Nascido , Glândula Tireoide/diagnóstico por imagem , Glândula Tireoide/fisiopatologia , UltrassonografiaRESUMO
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.
Assuntos
Humanos , Criança , Glândula Tireoide/patologia , Glândula Tireoide , Hipotireoidismo Congênito , Diagnóstico Precoce , Hipotireoidismo Congênito/classificação , Programas de RastreamentoRESUMO
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.
Assuntos
Humanos , Recém-Nascido , Lactente , Criança , Adolescente , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Doenças Metabólicas/complicações , Hiperinsulinismo/complicações , Hiperinsulinismo/congênito , Hiperinsulinismo/terapia , Hiperinsulinismo Congênito/complicações , Hipoglicemia/classificação , Hipoglicemia/terapia , Hormônios/deficiência , Preparações Farmacêuticas/efeitos adversosRESUMO
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.
Assuntos
Humanos , Estatura , Hormônio do Crescimento/uso terapêutico , Transtornos do Crescimento/psicologia , Transtornos do Crescimento/tratamento farmacológico , Imagem Corporal , Consenso , Hormônio do Crescimento/efeitos adversos , Relações Interpessoais , Fatores de Risco , Autoimagem , Apoio SocialRESUMO
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.
Assuntos
Humanos , Feminino , Criança , Hipertireoidismo/complicações , Hipertireoidismo/sangue , Síndrome de Down/complicações , Antitireóideos/uso terapêutico , Hipertireoidismo/diagnóstico , Hipertireoidismo/tratamento farmacológico , Hormônios Tireóideos/sangue , Propiltiouracila/uso terapêutico , Transaminases/sangueRESUMO
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.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , /sangue , Genótipo , Hirsutismo , Hiperandrogenismo , Hiperplasia Suprarrenal Congênita/sangue , Hormônio Adrenocorticotrópico , Mutação , Reação em Cadeia da Polimerase , Puberdade Precoce , Estudos RetrospectivosRESUMO
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.
Assuntos
Humanos , Masculino , Adolescente , Hipoglicemia/etiologia , Hipoglicemia/terapia , Insulinoma/complicações , Insulinoma/diagnóstico , Neoplasias Pancreáticas , Evolução Clínica , Glucagon/administração & dosagem , Glicemia/análise , Insulina/sangue , Sinais e SintomasRESUMO
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.
Assuntos
Humanos , Condrócitos , Substâncias de Crescimento , Osteoblastos , Osteogênese/genéticaRESUMO
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.