Association between depressive symptoms in mothers and metabolic control in adolescents with type 1 diabetes. / Asociación entre síntomas depresivos de las madres y control metabólico en adolescentes con Diabetes Mellitus tipo 1.

INTRODUCTION: Poor metabolic control in patients with Type 1 Diabetes Mellitus (T1DM) is associated with short- and long-term complications. Adolescents with T1DM present poorer metabolic control than pa tients of other age groups. Few studies have shown an association between mothers with depressive symptoms and the metabolic control of their adolescent children. OBJECTIVE: To evaluate the associa tion between maternal depressive symptoms and metabolic control of their adolescents with T1DM. SUBJECTS AND METHOD: Cross-sectional observational study carried out with adolescents aged between 10 and 18 years, with T1DM diagnosis of at least 1 year ago and their mothers. The Beck Depression Inventory-II and the SALUFAM questionnaire were applied, and sociodemographic data were co llected. Glycosylated hemoglobin from capillary blood was used as a marker of metabolic control. RESULTS: 86 couples (mother-adolescent children) were studied. The average age of the adolescents was 14.04 years and the average evolution time of T1DM was 5.95 years. 27.325.6% of mothers had depressive symptoms, which was associated with worse metabolic control of their children (HbA1c of 7.66% and 8.91%, p-value <0.001). 17.9% of adolescents had depressive symptoms, which was not associated with maternal depressive symptoms or worse metabolic control. Maternal depressive symptoms were also associated with lower maternal and paternal educational levels, high number of children in the family, presence of other siblings with chronic illnesses, and high health vulnera bility (SALUFAM). CONCLUSIONS: The mother's depressive symptoms can be associated with worst metabolic control in T1MD adolescents. It is fundamental a multidisciplinary family approach to get better metabolic controls in T1DM adolescents.

Asociación entre síntomas depresivos de las madres y control metabólico en adolescentes con Diabetes Mellitus tipo 1 / Association between depressive symptoms in mothers and metabolic control in adolescents with type 1 diabetes

Resumen: Introducción: Un mal control metabólico en pacientes con Diabetes Mellitus tipo 1 (DM1) se asocia a complica ciones a corto y largo plazo. Los adolescentes con Diabetes tipo 1 presentan peor control metabólico comparado con pacientes de otros grupos etarios. Escasos estudios han demostrado una asociación entre síntomas depresivos de las madres con el control metabólico de sus hijos adolescente. Objetivo: Evaluar la asociación entre síntomas depresivos maternos y control metabólico de adolescentes con DM1. Sujetos y Método: Estudio observacional transversal realizado en adolescentes, edades 10 a 18 años, con diagnóstico de DM1 de más de un año de evolución y sus madres. Se aplicó test de Beck II, cuestionario de depresión infantil, cuestionario SALUFAM y cuestionario de datos sociodemográficos. Se realizó hemoglobina glicosilada capilar, como marcador de control metabólico. Resultados: Se estudiaron 86 parejas (madre-hijo adolescente), adolescentes de edad media 14.04 años y 5.95 años de evolución de DM1. El 25.6% (n 22) de las madres presentó síntomas depresivos, asociándose a peor control metabólico en sus hijos (HbA1c: 7.66% y 8.91%, p < 0.001). El 17.9% de adolescentes presentó síntomas depresivos, no asociándose a síntomas depresivos maternos ni a peor control metabólico. Los síntomas depresivos maternos se asociaron a menor nivel educacional materno y pater no, mayor número de hijos en la familia, presencia de otros hermanos con enfermedades crónicas y a mayor vulnerabilidad en salud (SALUFAM). Conclusiones: La presencia de síntomas depresivos maternos se asocia a peor control metabólico en el adolescente con DM1, siendo fundamental un enfoque multidisciplinario familiar para obtener mejores resultados metabólicos en los adolescentes.

Abstract: Introduction: Poor metabolic control in patients with Type 1 Diabetes Mellitus (T1DM) is associated with short- and long-term complications. Adolescents with T1DM present poorer metabolic control than patients of other age groups. Few studies have shown an association between mothers with depressive symptoms and the metabolic control of their adolescent children. Objective: To evaluate the associa tion between maternal depressive symptoms and metabolic control of their adolescents with T1DM. Subjects and Method: Cross-sectional observational study carried out with adolescents aged between 10 and 18 years, with T1DM diagnosis of at least 1 year ago and their mothers. The Beck Depression Inventory-II and the SALUFAM questionnaire were applied, and sociodemographic data were co llected. Glycosylated hemoglobin from capillary blood was used as a marker of metabolic control. Results: 86 couples (mother-adolescent children) were studied. The average age of the adolescents was 14.04 years and the average evolution time of T1DM was 5.95 years. 27.325.6% of mothers had depressive symptoms, which was associated with worse metabolic control of their children (HbA1c of 7.66% and 8.91%, p-value <0.001). 17.9% of adolescents had depressive symptoms, which was not associated with maternal depressive symptoms or worse metabolic control. Maternal depressive symptoms were also associated with lower maternal and paternal educational levels, high number of children in the family, presence of other siblings with chronic illnesses, and high health vulnera bility (SALUFAM). Conclusions: The mother's depressive symptoms can be associated with worst metabolic control in T1MD adolescents. It is fundamental a multidisciplinary family approach to get better metabolic controls in T1DM adolescents.

Terapia complementaria a la insulina en el tratamiento de niños y adolescentes con diabetes mellitus tipo 1- (DM1) / Therapies complementaries to insulin in the treatment of children and adolescents with type 1 diabetes mellitus (T1DM)

La diabetes mellitus tipo 1 (DM1), es una enfermedad crónica caracterizada por la deficiencia de insulina debido a la pérdida de células ß pancreáticas, las alteraciones hormonales en la DM 1 no se limitan a la deficiencia de insulina; existiendo también secreción inadecuadada de glucagón en el período postprandial. Aunque el control glucémico con terapias intensivas con insulina ha reducido la incidencia de complicaciones microvascular y macrovasculares. La mayoría de las personas con DM1 tienen un control glucémico subóptimo; Por lo tanto, el uso de farmacoterapia adyuvante para mejorar el control ha sido de interés clínico. El uso de estos nuevos medicamentos brindaría la oportunidad de imitar más de cerca la fisiología pancreática normal, y contrarrestar otros mecanismos fisiopatológicos diferentes a Insulinopenia; contribuyendo a lograr un mejor control metabólico y expectativa de vida.

Type 1 diabetes mellitus (T1DM), is a chronic disease characterized by insulin deficiency due to the loss of pancreatic ß cells, the hormonal alterations in T1DM are not limited to insulin deficiency; there is also a deregulated glucagon secretion in the postprandial period. Although glycemic control with intensive therapies with insulin has reduced the incidence of microvascular and macrovascular complications, most people with T1DM1 glycemic control; therefore, the use of adjuvant pharmacotherapy to improve control has been of clinical interest. The use of these new drugs would offer the opportunity to imitate more closely the normal pancreatic physiology, and to counteract other physiopathological mechanisms different from insulinopenia; contributing to achieve better metabolic control and life expectancy.

Tumor ovárico de células de Leydig en una niña de 7 años que se presentó como pubarquia precoz con elevación de 17 hidroxiprogesterona / Ovarian tumor of Leydig cells in a 7-year-old girl who presented as precocious pubarche with elevation of 17 hydroxyprogesterone

Clinical case: a girl of 7 ½ years who consulted for early pubarche without thelark, with a percentile size of 75 for a genetic target size in the 10th percentile, overweight with a 90th percentile BMI, and normal blood pressure. The biochemical study showed high levels of androgens: testosterone: 7.2 ng/dL, androstenedione of 5.1 ng / ml, 17OHP: 15 ng / dL with low normal DHEAS (0.26 ug/ml), Plasma Renin Activity normal low: 0.22 ng/mL/h. Initial imaging study showed a bone age of 10 years 6 months and normal abdominal and pelvic ultrasound. Molecular study showed no pathogenic variants in the CYP21A2 gene (21 Hydroxylase). With a probable diagnosis of non-classical congenital adrenal hyperplasia (HSRNC) and no known mutation, he started treatment with hydrocortisone (12 mg/m2). At 8.7 years, pubertal development begins and braking begins with LHRH analogues, which are administered for 18 months. Despite the treatment, signs of virilization and elevation of androgens (testosterone up to 130 ng/ml) are progressively accentuated, which do not diminish when trying different corticosteroid schemes. MRI of the abdomen and pelvis shows the normal adrenal glands and a solid nodular image of 2.1 x 1.6 cm in the right ovary (Figure 2), later demonstrated with pelvic ultrasound (Figure 2). Right laparoscopic oophorectomy was performed, whose biopsy demonstrated a Leydig cell tumor. One month after surgery, all androgenic levels were normalized, so the gradual suspension of corticosteroids began. Conclusion: Although HSRNC is the most frequent pathological cause of early pubarche, when it is associated with progressive clinical and biochemical hyperandrogenism despite adequate treatment and without pathogenic variants in the CYP21A2 gene, even with high levels of 17OHP, other causes should be considered, specifically, androgen producing tumors.

Caso clínico: niña de 7½ años que consulta por pubarquia precoz sin telarquia, con talla en percentil 75 para una talla objetivo genético en percentil 10, sobrepeso con IMC percentil 90 y presión arterial normal. El estudio bioquímico mostró niveles elevados de andrógenos: testosterona: 7,2 ng/dL, androstenediona de 5,1 ng/ml, 17OHP: 15 ng/dL con DHEAS normal baja (0,26 ug/ml), Actividad de Renina Plasmática normal baja: 0.22 ng/ mL/h. Estudio de imágenes inicial mostró una edad ósea de 10 años 6 meses y ecografía abdominal y pelviana normales. Estudio molecular no mostró variantes patogénicas en el gen CYP21A2 (21 Hidroxilasa). Con diagnosticó probable de hiperplasia suprarrenal congénita no clásica (HSRNC) y sin mutación conocida,inició el tratamiento con hidrocortisona (12 mg/m2). A los 8.7 años comienza desarrollo puberal y se inicia frenación con análogos de LHRH, los cuales se administran por 18 meses. A pesar del tratamiento se acentúan progresivamente los signos de virilización y hayelevación de los andrógenos (testosterona hasta 130 ng/ml), que no disminuyen intentando diferentes esquemas de corticoides. Se realiza RM de abdomen y pelvis que muestra las glándulas suprarrenales normales y una imagen nodular sólida de 2.1 x 1.6 cm en el ovario derecho (Figura 2), demostrada posteriormente con Ecografía pelviana (Figura 2). Se realiza ooforectomía derecha por vía laparoscópica, cuya biopsia demostró un tumor de células de Leydig. Un mes después de la cirugía, se normalizan todos los niveles androgénicos por lo que se inició la suspensión gradual de los corticoides. Conclusión: Aunque la HSRNC es la causa patológica más frecuente de la pubarquia precoz, cuando se asocia con un hiperandrogenismo clínico y bioquímico progresivo a pesar de un tratamiento adecuado y sin variantes patógenicas en el gen CYP21A2, incluso con niveles elevados de 17OHP, otras causas deben ser consideradas, específicamente tumores productores de andrógenos.

El adelanto en la telarquia y edad de la menarquia se relacióna con la malnutrición por exceso en niñas chilenas pero no en varones: estudio de base poblacional / The advance in thelarche and age of menarche is related to malnutrition by excess in Chilean girls but not in boys: population-based study

Introduction: Puberty normally begins after 8 years in girls and 9 years in boys. Objective: To determine the prevalence of signs of precocious puberty (PP), breast development in girls, premature gonadal development (PGD), premature adrenarche (PA), menarche age (MA) and its association with nutritional status (NS). Material and Methods: From a sample of 3.010 children from 5 to 14 years randomly selected in Santiago of Chile were chosen a subsample of 873 kids according to the cutoff to define PP. Survey was applied to obtain MA. Logistic regression were used to evaluate the relationship between PP and NS. Results: In boys the prevalence of PGD and PP was 8.55% and 3.16% respectively, no relationship was found with nutritional status In girls the prevalence of breast development and PA was 8.13% and 0.9% respectively. Only there be association between PP and NS in women: with a prevalence of 1,2%, 13,9% and 21,1% in well-nourished, Overweight and obesity are at greater risk of showing PP compared with eutrophic girls with an OR of 25,5 (IC 95% 3,2-203,0) and 46.93 (IC 95% 6,1-361,5). MA was 12,01 ± 0,94 years in eutrophic girls and 11,40 ± 0,96years in obese girls (p< 0,05). Conclusion: There was a positive correlation in females between overweight and obesity an PP and MA. There is a secular trend in MA, to compare these findings with other national studies. Obesity could have an important role in explaining the advancement observed in pubertal development.

Introducción: El desarrollo puberal se inicia normalmente después de los 8 años en niñas y de los 9 años en varones. Objetivo: Estimar la prevalencia de signos de pubertad precoz (sPP): crecimiento genital (CG) en varones, telarquia en niñas y vello púbico (VP) en ambos sexos; y determinar edad de la menarquia (EM) en una muestra de escolares de Santiago de Chile), y evaluar la asociación de estas variables con el estado nutricional (EN). Material y Métodos: Se examinaron 3.010 escolares de clase media baja de 6 a 14 años, pertenecientes a 10 colegios de Santiago de Chile y seleccionados aleatoriamente. En todos ellos se consignó peso, talla, IMC y desarrollo puberal según Tanner. Se aplicó una encuesta a los padres para obtener la EM a la población total de mujeres (n= 1.433). Para determinar sPP se analizaron por separado los 867 niños (62% mujeres) menores a la edad establecida como puntos de corte para definir PP. Se utilizó regresión logística para determinar la asociación existente entre sPP y el EN. Resultados: En varones la prevalencia de CG y VP fue de 8,55% y 3,16% y no se asocio al EN. La prevalencia de telarquia y VP en niñas fue de 8,13% y 0,9% respectivamente. Se observó una fuerte asociación entre telarquia y EN con prevalencias de 1.2%, 13.9% y 21.1% en eutróficas, sobrepeso y obesas, respectivamente (p< 0,0001) (Gráfico 1). La presencia de sobrepeso y/o obesidad otorgan un mayor riesgo de presentar telarquia, vs comparación con las niñas eutróficas con un OR de 25,5 (IC 95% 3,2-203,0) y 46.93 (IC 95% 6,1-361,5), respectivamente. La EM fue 12,01 ± 0,94 años en niñas eutróficas siendo de 11,40 ± 0,96 años en niñas obesas (p< 0,05). Conclusión: Se observó una correlación positiva solo en el sexo femenino entre malnutrición por exceso, telarquia precoz y EM. Se observa una tendencia secular en la EM al comparar los hallazgos con otros estudios nacionales.

Actualización en el manejo del síndrome de Turner en niñas y adolescentes: revisión de la literatura e Incorporación de recomendaciones de las nuevas guías clínicas / Update on the management of Turner syndrome in girls and adolescents: review of the literature and incorporation of recommendations of the new clinical guidelines

Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.

El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.

Encefalopatía respondedora a corticoides asociada a tiroiditis autoinmune (SREAT). Una causa no habitual de compromiso de conciencia en pediatría, reporte de 2 casos / Steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT): an unusual cause of encephalopathy in children, report of two cases

Introduction: steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare condition in children. The pathogenesis and etiology of SREAT has not yet been clearly identified. Clinical features include acute or subacute encephalopathy with neuropsychiatric symptoms, associated with abnormally elevated thyroid antibodies (TA) and symptoms improvement with corticosteroid treatment. Methods and Patients: we present 2 clinical cases; the first a 6 years 8 months male with cephalic myoclonic seizures and behavioral changes, the second a 12 years 10 months female with 4 hospitalizations for encephatlopathy, dystonia and psychomotor agitation. In both patients thyroid function tests and TA were compatible with Hashimoto’s thyroiditis, this associated with neuropsychiatric symptoms did raise the diagnosis of SREAT. Glucocorticoid therapy was started, the first case showed remission of seizures and behavioral improvement, however the second patient had insufficient response, so second line therapy with intravenous immunoglobulin was introduced with good response. This therapy was supplemented by additional long-term glucocorticoids use but when suspended both patients presented relapsing symptoms. Conclusions: Although SREAT is rarely suspected at presentation, it is necessary to consider this diagnosis in patients with encephalopathy, neuropsychiatric symptoms and elevated TA. Further studies are required to elucidate the pathophysiology of this disease and follow-up work to assess comorbidities and long-term complications in pediatric patients.

Niveles de hormonas tiroideas en niños obesos / Thyroid function in obese children

Introducción: El rendimiento del estudio de función tiroidea en niños obesos es desconocido. Nuestro objetivo fue describir en esta población los niveles de hormona tiro-estimulante (TSH) y tiroxina plasmática libre (T4L), los factores asociados y la frecuencia de hipotiroidismo. Pacientes y Método: Estudio retrospectivo de 260 fichas clínicas de niños obesos que consultaron a una nutrióloga infantil por primera vez entre enero de 2007 y junio de 2012. Se consignó la edad, sexo, pubertad, peso, talla y perímetro de cintura (PC). Calculamos el índice de masa corporal (IMC, z-score), peso/talla (IPT) y talla/edad (NCHS 2000). Se determinaron los niveles de TSH y T4L. Resultados: Se incluyeron 210 pacientes entre 2 y 18 años, 59 por ciento mujeres, 51,4 por ciento pre-púberes. 23,9 por ciento sobrepeso y 76,1 por ciento obesidad. 70,8 por ciento presentó obesidad central. TSH y T4L fueron 2,31 uUI/mL (0,69 a 8,07) y 1,289 +/- 0,17 ng/dL, respectivamente. Se encontró hipotiroidismo en 21 pacientes (10 por ciento), subclínico en 20 de éstos. Hubo una correlación inversa de LogTSH con edad y directa de LogTSH con zIMC. Con regresión múltiple solamente zIMC fue significativo (p < 0,001, R2 ajustado 8,2 por ciento, beta 0,19). No hubo diferencias en edad, sexo, pubertad ni estado nutricional entre eutiroideos e hipotiroideos. Conclusión: Encontramos 9,5 por ciento de hipotiroidismo subclínico, lo cual justifica el tamizaje con TSH en niños obesos.

Introduction: Study results regarding thyroid function in obese children are unknown. The objective of this study was to describe the levels of thyroid stimulating hormone (TSH), free plasma thyroxine (FT4), associated factors and frequency of hypothyroidism in these children. Patients and Method: A retrospective study of medical records of 260 obese children who consulted a physician for the first time between January 2007 and June 2012. Age, gender, puberty, weight, height and waist circumference (WC) were considered; body mass index (BMI z -score), weight/height (IPT) and height/age (NCHS 2000) were calculated, and TSH and FT4 were measured. Results: 210 patients aged 2 to 18 years were included, 59 percent female, 51.4 percent prepubescent children, 23.9 percent were overweight and 76.1 percent obese. 70.8 percent of the children surveyed had central obesity. TSH and FT4 values were 2.31 uUI/mL (0.69 to 8.07) and 1.289 +/- 0.17 ng/dL, respectively. Hypothyroidism was found in 21 patients (10 percent), 20 of these presented it as subclinical condition. An inverse correlation was present between age and log TSH and a direct correlation was described between log TSH and zBMI. Qnly zBMI was significant (p < 0.001, adjusted R2 8.2 percent beta 0.19) after using multiple regression. No differences in age, gender, nutritional status and puberty between euthyroid and hypothyroid patients were found. Conclusion: 9.5 percent of patients presented subclinical hypothyroidism, which supports TSH screening in obese children.

Cáncer tiroideo papilar: reporte de 4 casos familiares / Papillary thyroid cancer: case reports of four family cases

Introducción: El cáncer papilar del tiroides (CPT) es la neoplasia endocrina más frecuente, siendo el 80% de los casos de la variedad papilar; sólo el 10 por ciento se manifiesta antes de los 21 años y tiene una incidencia estimada en este grupo de 0,54:100.000. Su comportamiento en la edad pediátrica se caracteriza por el diagnóstico en una etapa más avanzada de la enfermedad pero con buena respuesta terapéutica y muy baja mortalidad. Objetivo: Presentar 4 casos familiares de CPT, discutir las características particulares y la importancia del diagnóstico precoz en pacientes. Casos clínicos: Se presentan 4 familias con sujetos portadores de un carcinoma papilar familiar de Tiroides, en todas ellas el caso pediátrico se presentó con posterioridad a un caso de un adulto familiar directo, por lo que su búsqueda fue más precoz, y a pesar de un tratamiento oportuno ya tenían enfermedad avanzada al diagnóstico. Los casos pediátricos corresponden a 3 mujeres y 1 varón de edades promedio de 12 años 6 meses al momento del diagnóstico. Discusión: La variedad familiar del carcinoma papilar de tiroides (2 o más familiares de primer grado afectados), representa el 5 por ciento de los cánceres papilares. Se transmite a través de herencia autosómica dominante con penetrancia incompleta y expresividad variable. Se manifiesta a menor edad que el esporádico, es más agresivo con mayor invasión local (32 por ciento), recurrencia (20-50 por ciento) y metástasis linfática (57 por ciento), y se asocia a enfermedades tiroídeas benignas. Con frecuencia es multifocal. Conclusión: El cáncer familiar papilar de tiroides es una patología con peor pronóstico que la variedad esporádica por lo que se requiere una alto índice de sospecha en las familias afectadas para un diagnóstico y tratamiento precoz.

Introduction: Papillary thyroid cancer (PTC) is the most common endocrine malignancy, representing 80 percent of all thyroid cancers; only 10 percent of cases are manifested before age 21 and have an estimated incidence of 0.54 cases per 100,000 people. In children it is diagnosed at a more advanced stage of the disease but with good therapeutic response and very low mortality. Objective: To present four family cases with PTC, discuss the particular characteristics and the importance of early diagnosis. Case reports: 4 families with members affected by family papillary thyroid carcinoma are presented, all pediatric cases were manifested after a direct member adult case was diagnosed, therefore pediatric patients were early detected, but despite a timely treatment, the disease was advanced at the time of diagnosis. The pediatric cases are 3 females and 1 male with an average age of 12 ½ years old at diagnosis. Discussion: The family variety of papillary thyroid carcinoma (2 or more direct members affected), represents 5 percent of papillary cancers. It is transmitted through autosomal dominant inheritance with incomplete penetrance and variable expressivity. It occurs at a younger age than the sporadic type, and it is more aggressive with greater local invasion (32 percent), recurrence (20-50 percent) and lymphatic metastases (57 percent), and it is associated with benign thyroid diseases and often, it is multifocal. Conclusion: The family papillary thyroid cancer is a disease with worse prognosis than the sporadic variety; therefore, a high index of suspicion is required in affected families for early diagnosis and treatment.

[Thyroid function in obese children]. / Niveles de hormonas tiroideas en niños obesos.

INTRODUCTION: Study results regarding thyroid function in obese children are unknown. The objective of this study was to describe the levels of thyroid stimulating hormone (TSH), free plasma thyroxine (FT4), associated factors and frequency of hypothyroidism in these children. PATIENTS AND METHOD: A retrospective study of medical records of 260 obese children who consulted a physician for the first time between January 2007 and June 2012. Age, gender, puberty, weight, height and waist circumference (WC) were considered; body mass index (BMI z -score), weight/height (IPT) and height/age (NCHS 2000) were calculated, and TSH and FT4 were measured. RESULTS: 210 patients aged 2 to 18 years were included, 59% female, 51.4% prepubescent children, 23.9% were overweight and 76.1% obese. 70.8% of the children surveyed had central obesity. TSH and FT4 values were 2.31 µUI/mL (0.69 to 8.07) and 1.289 ± 0.17 ng/dL, respectively. Hypothyroidism was found in 21 patients (10%), 20 of these presented it as subclinical condition. An inverse correlation was present between age and log TSH and a direct correlation was described between log TSH and zBMI. Qnly zBMI was significant (p < 0.001, adjusted R2 8.2%, ß 0.19) after using multiple regression. No differences in age, gender, nutritional status and puberty between euthyroid and hypothyroid patients were found. CONCLUSION: 9.5% of patients presented subclinical hypothyroidism, which supports TSH screening in obese children.

[Papillary thyroid cancer: case reports of four family cases]. / Cáncer tiroideo papilar. Reporte de 4 casos familiares.

INTRODUCTION: Papillary thyroid cancer (PTC) is the most common endocrine malignancy, representing 80% of all thyroid cancers; only 10% of cases are manifested before age 21 and have an estimated incidence of 0.54 cases per 100,000 people. In children it is diagnosed at a more advanced stage of the disease but with good therapeutic response and very low mortality. OBJECTIVE: To present four family cases with PTC, discuss the particular characteristics and the importance of early diagnosis. CASE REPORTS: 4 families with members affected by family papillary thyroid carcinoma are presented, all pediatric cases were manifested after a direct member adult case was diagnosed, therefore pediatric patients were early detected, but despite a timely treatment, the disease was advanced at the time of diagnosis. The pediatric cases are 3 females and 1 male with an average age of 12 ½ years old at diagnosis. DISCUSSION: The family variety of papillary thyroid carcinoma (2 or more direct members affected), represents 5% of papillary cancers. It is transmitted through autosomal dominant inheritance with incomplete penetrance and variable expressivity. It occurs at a younger age than the sporadic type, and it is more aggressive with greater local invasion (32%), recurrence (20-50%) and lymphatic metastases (57 %), and it is associated with benign thyroid diseases and often, it is multifocal. CONCLUSION: The family papillary thyroid cancer is a disease with worse prognosis than the sporadic variety; therefore, a high index of suspicion is required in affected families for early diagnosis and treatment.

La autoevaluación es un método poco confiable para establecer el desarrollo puberal en escolares / Self evaluation is not reliable for assessing puberal development in school-aged children

Introduction: Puberal development assessment (PDA) is performed according Tanner's method (TM). Objective: In order establish the coincidence between PDA determined by physicians and the self-evaluation by school-aged children. Material and Methods: 2 980 school children from Santiago, Chile, were assessed by means of TM, the development of the mammary gland (MD), male genitalia (MG) and pubic hair (PH) were assessed. PDA was simultaneously performed by physicians and by the school children. Results: Concordance between physicians and self assessment showed a kappa coefficient (KC) of 0.55, 0.45, and 0.51 in PH, MD and MG respectively, (acceptable KC > 0.61). Self-evaluation of PDA decreased as the age of children increased, with OR of 0.76 (95 percent IC 0.74 -0.79); 0.87 (95 percent IC 0.83 - 0.91) and 0.92 (95 percent IC 0.88 - 0.96) for PH, MD and MG respectively. An inverse relationship between nutritional status (NS) and PDA was observed only in PH, obese school children underscored their PH (OR 0.6; 95 percent IC 0.5 - 0.7). Multivariate analysis for gender and NS showed that only females overestimate their PH, OR of 1.15 (95 percent IC 1-1.32). Conclusions: PDA through self-assessment yields only moderate correlation coefficients, thus it is not reliable for making relevant clinical decisions.

Introducción: La determinación del desarrollo puberal (DDP) se evalúa según el método de Tanner (MT). Objetivo: Determinar la concordancia de la DDP entre médicos con la autoevaluación en escolares. Pacientes y Métodos: Se examinaron 2 980 escolares de Santiago de Chile. Se evalúo desarrollo mamario (DM), genitales masculinos (GM) y vello púbico (VP) mediante el MT. La DDP fue evaluada simultáneamente por un médico y por los escolares. Resultados: La concordancia entre médicos y la autoevaluación mostró un coeficiente kappa (CK) de 0,55, 0,45, 0,51 en VP, DM y GM respectivamente, (CK aceptable > 0,61). La autoevaluación del DDP disminuyo a medida que aumentaba la edad, con OR respectivos de 0,76 (95 por ciento IC 0,74-0,79); 0,87 (95 por ciento IC 0,83-0,91) y 0,92 (95 por ciento IC 0,88 -0,96) para VP, DM y GM. Se observo una relación inversa entre estado nutricional (EN) y DDP sólo en VP, escolares obesos subestimaban su VP (OR 0,6; 95 por ciento IC 0,5-0,7). El análisis multivariado de género y EN mostró que sólo las mujeres sobreestimaban su VP, OR de 1,15 (95 por ciento IC 1-1,32). Conclusiones: La DDP mediante autoevaluación obtiene coeficientes de correlación sólo moderados que no permiten confiar en este para establecer decisiones clínicas relevantes.

Inducción de la pubertad en el síndrome de Turner / Induction of puberty in Turner's syndrome

Turner's Syndrome is the most frequent cause of female hypogonadism. Puberty must be pharmacologically induced in over 80 percent of these girls. Induction must be completed in a manner closest to physiology as possible. It is recommended that this induction be initiated at age 12 y.o. with natural estrogens (17 beta estradiol) in low dosage, equivalent to 1/10 a 1/8 of substitution dose, increasing stepwise and adding, after two years, a progestin to generate a menstruation. This revision shows various proposed schemes, as well as therapeutic alternatives available in Chile.

El síndrome de Turner es la causa más frecuente de hipogonadismo femenino. La pubertad tiene que ser inducida farmacológicamente en más del 80 por ciento de estas niñas. Esta inducción debe hacerse de la forma más fisiológica posible. Se recomienda iniciar esta inducción a los 12 años de edad cronológica, con estrógenos naturales (17 beta estradiol) en dosis bajas, equivalentes a 1/10 a 1/8 de la dosis de sustitución, aumentando la dosis por peldaños y agregando luego de dos años una progestina cíclica para generar una menstruación. En esta revisión se muestran los diversos esquemas propuestos en la literatura así como las alternativas terapéuticas existentes en Chile.

Sensibilidad diagnóstica de los distintos tiempos de la prueba de estímulo con clonidina, indicada para descartar deficiencia de hormona de crecimiento en niños con talla baja / Timing of growth hormone peaks during the clonidine provocation test

Background: Clonidine provocative test is used for the diagnosis of growth hormone (GH) deficiency. The duration of the test is not uniform across places where it is performed. Aim: To evaluate the frequency and timing of GH peaks during the clonidine test. To determine the timing with the highest diagnostic yield for GH deficiency. Patients and Methods: Analysis of the GH response during a clonidine test performed to 93 children with low stature, aged 11 +/- 3 years (41 percent women), with mean z scores of -2.3 +/- 0.8 for height and of 0.4 +/- 0.9 for body mass index, that were consecutively studied. A oral dose of 0.15 mg/m2 of clonidine was administered and GH levels were determined by the chemiluminescent enzyme immunoassay method of solid phase at 0, +30, +60, +90 and +120 minutes after. The cut-off point for GH deficiency was set at 7 ng/dL. Results: In ten children GH levels were lower than 7 ng/dL during the test and were considered as having GH deficiency. In 86 percent of the 83 patients without GH deficiency, the peak over 7 ng/mL appeared at +60 minutes and in 89 percent the peak had appeared at +90 minutes. In only 11 percent of these children, the peak appeared at +120 minutes. Conclusions: The timing with the highest diagnostic yield for GH is +60 minutes after the administration of clonidine. However the sample at +120 minutes should not be eliminated, considering that the highest GH peak appears at that time in 11 percent of children.

Varón 46 XX, un desorden del desarrollo sexual testicular: a propósito de un caso clínico / 46 XX disturbance of testicular sexual development: report of one case

We report a previously healthy child that consulted for the first time at the age of 11 years for short stature. At that moment, his height was 138 cm, with a mid-parental target height of 175 cm. He was in an initial pubertal stage with a Tanner II pubic hair and a testicular volume of 4 ml. Initial laboratory examination was normal and the child had a concordant bone age. He consulted again at 16 years of age, with a height of 162.4 cm (percentile 5 for age), a bone age of 18 years and a Tanner IV pubic hair, but the testicular volume persisted at 4 ml. A genetic study disclosed a 46 XX karyogram and a fluorescence in situ hybridization (FISH) for chromosomes X and Y that showed a positive sex determining region Y (SRY) in X chromosome.

Enfermedad de Addison en un niño con adrenoleucodistrofia ligada al cromosoma X / Primary adrenal failure associated to X-linked adrenoleukodystrophy: report of one case

Primary adrenal failure (PAF) can be congenital or acquired. X-linked adrenoleukodystrophy (ALD-X), produced by the mutation of the ABDC1 gene (Xq28), that leads to the plasma accumulation of very long chain fatty acids, is one of the congenital diseases associated to adrenal destruction. We report a 7 years old boy with fast progression of right strabismus and general symptoms as weariness, weakness and mucosal and skin pigmentation. A brain magnetic resonance image showed a leukoencephalopathy, characteristic of ALD-X. Low plasma cortisol, high ACTH levels and lack of response to ACTH test, confirmed the diagnosis of primary adrenal insufficiency. High plasma levels of C26:0 fatty acids, and C24/22, C26/22 ratios confirmed ALD-X.

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.

Diabetes mellitus tipo 2 e intolerancia a la glucosa en niños y adolescentes con obesidad: ¿una epidemia moderna? / Frequency of diabetes mellitus and glucose intolerance among obese children and adolescents

Background: The prevalence obesity, type 2 diabetes (DM2) and glucose intolerance among children is increasing worldwide. Aim: To assess the frequency of DM2 and GI among severely obese children and adolescents. Patients and methods: Cross sectional study of 69 children and adolescents aged 12 +/- 3 years with a mean body mass index (BMI) z score of 2.9 +/- 0.6. An oral glucose tolerance test (OGTT) was performed, measuring fasting and 120 minutes blood glucose and insulin. According to these results two patients had diabetes mellitus and 4 had glucose intolerance. Previously studied patients, five with diabetes mellitus and two with glucose intolerance were incorporated to the present study. These 13 participants were compared with the remaining 63 children without abnormalities in glucose metabolism, considered as controls. Results: Body mass index among children with glucose intolerance, diabetes mellitus and controls was 33.8 +/- 6.4, 26.7 +/- 5.1 and 29.4 +/- 4.5 kg/m2, respectively, p = 0.03. Basal and 120 min insulin levels were also significantly higher among children with glucose intolerance compared with diabetics and controls. Homeostasis model assessment for insulin resistance was significantly lower in controls than in children with diabetes or glucose intolerance. Conclusions: Eight percent of this group of obese children and adolescents had DM2 or glucose intolerance. Oral glucose tolerance test should be included in the routine assessment of obese children to diagnose abnormalities of glucose metabolism.

Cáncer medular de tiroides esporádico de curso agresivo, en un adolescente varón / Madullary thyroid cancer in a 14 years old male: case report

Medullary thyroid cancer can appear sporadically or as part of a multiple endocrine neoplasia type 2A or 2B. In both conditions, it is associated with mutations of proto oncogene RET (rearranged during transfection). We report a 14 years old male presenting with a bone lesion in the skull followed by a hard cevical mass. A CAT scan showed an invasive thyroid nodule with involvement of regional lymph nodes , osteolytic lesions in skull, spine and ribs and liver metastases. Serum calcitonin was markedly elevated (9752 pg/ml, normal below 14 pg/ml). Fine needle biopsy showed a medullary thyroid carcinoma and the patient was subjected to a total thyroidectomy and radical cervical dissection. In the postoperative period the patient required calcium and vitamin D supplementation. Serum calcitonin 15 days after surgery was 11.692 pg/ml. Palliative radiotherapy was indicated for spine pain. A percutaneous gastrostomy was indication for nutritional support. The molecular study did not detect mutations of RET gene between exons 10 and 16.

Prevalencia de caries en alumnos de educación básica y su asociación con el estado nutricional / Prevalence of dental decay in elementary school children and association with nutritional status

Introduction: It is thought that obesity is a risk factor in the development of dental decay in children. However, there is no agreement in the literature in this area. Objective: To define the prevalence of caries among lower class school children in the metropolitan region in Santiago, Chile, years 2006-2007, and observe its association with the children's nutritional status. Subjects and Methods: A random sample of children 5-15 years of age, in eight primary schools provided a stratified population of 1190 individuals. Oral examination provided a health index, nutritional status was determined using CDC 2000. Statistical analyses were performed utilizing Stata 9,0. Results: Prevalence of dental caries in the total population was 79,5 percent. Prevalence of decay among eutrophic, overweight and obese children was 80,0 percent, 78,1 percent y 79,9 percent respectively. Conclusion: This population presents a very high prevalence of dental caries, especially among a group classified a "normal". In this sample, there was no statistically significant association between dental decay and nutritional status.

Introducción: Se ha postulado que la obesidad constituiría un factor de riesgo para el desarrollo de caries en niños, sin embargo, la literatura publicada muestra información discordante respecto de esta asociación. Objetivo: Conocer la prevalencia de caries en escolares de clase media baja de región metropolitana de Santiago, Chile y determinar su asociación con el estado nutricional de los mismos, entre los años 2006 y 2007. Materiales y Métodos: Se ejecutó un estudio de corte transversal en 8 colegios de la Sociedad de Instrucción Primaria (SIP). Se seleccionó, mediante un muestreo aleatorio estratificado por género y curso, una muestra de 1190 escolares de 5 a 15 años. Mediante examen bucal se consignó índice COPD. Se determinó el estado nutricional mediante la utilización de la referencia CDC 2000. Para los cálculos y estimaciones estadísticas se utilizó el programa Stata 9,0. Resultados: La prevalencia de caries en la población total fue de 79,5 por ciento. La prevalencia de caries en los niños eutróficos, con sobrepeso y obesos fue de 80,0 por ciento, 78,1 por ciento y 79,9 por ciento respectivamente. Conclusión: La población evaluada presenta una alta prevalencia de caries, sobretodo en el grupo clasificado como normal. En esta muestra no se encontró una asociación estadísticamente significativa entre la prevalencia de caries y el estado nutricional.