Predictive and diagnostic biomarkers for gestational diabetes and its associated metabolic and cardiovascular diseases.

Gestational diabetes mellitus (GDM) is defined as the presence of high blood glucose levels with the onset, or detected for the first time during pregnancy, as a result of increased insulin resistance. GDM may be induced by dysregulation of pancreatic ß-cell function and/or by alteration of secreted gestational hormones and peptides related with glucose homeostasis. It may affect one out of five pregnancies, leading to perinatal morbidity and adverse neonatal outcomes, and high risk of chronic metabolic and cardiovascular injuries in both mother and offspring. Currently, GDM diagnosis is based on evaluation of glucose homeostasis at late stages of pregnancy, but increased age and body-weight, and familiar or previous occurrence of GDM, may conditionate this criteria. In addition, an earlier and more specific detection of GDM with associated metabolic and cardiovascular risk could improve GDM development and outcomes. In this sense, 1st-2nd trimester-released biomarkers found in maternal plasma including adipose tissue-derived factors such as adiponectin, visfatin, omentin-1, fatty acid-binding protein-4 and retinol binding-protein-4 have shown correlations with GDM development. Moreover, placenta-related factors such as sex hormone-binding globulin, afamin, fetuin-A, fibroblast growth factors-21/23, ficolin-3 and follistatin, or specific micro-RNAs may participate in GDM progression and be useful for its recognition. Finally, urine-excreted metabolites such as those related with serotonin system, non-polar amino-acids and ketone bodies, may complete a predictive or early-diagnostic panel of biomarkers for GDM.

Manifestaciones neuropsiquiátricas de la enfermedad de Graves en la edad pediátrica / Neuropsychiatric manifestations of Graves’ disease in paediatric patients

No disponible

Distensión abdominal y estancamiento ponderoestatural como forma de presentación de diferentes tipos de glucogenosis / Different glycogen storage diseases presenting as abdominal distention and growth and weight retardation

No disponible

Los defectos en las extremidades, una facies peculiar y el fallo de medro no siempre constituyen un síndrome de Cornelia de Lange / Limbs defects, peculiar face and failure to thrive is not always Cornelia de Lange Syndrome

Las malformaciones de las extremidades son raras y su etiología, variable. Existen síndromes genéticos que combinan estas malformaciones con discapacidad intelectual y otras malformaciones graves, como el síndrome de Cornelia de Lange. Presentamos el caso de una paciente con malformaciones severas en las 4 extremidades, discapacidad intelectual y características faciales peculiares que llevaron al diagnóstico presuntivo de síndrome de Cornelia de Lange. Presentamos el caso de una niña de 4 años de edad, padres consanguíneos y etnia gitana, con antecedentes de retraso del crecimiento intrauterino, bajo peso al nacer, microcefalia y múltiples malformaciones en ambas manos y pies, incluida la mano derecha hendida, con diagnóstico presuntivo de síndrome de Cornelia de Lange. Durante el primer año de vida se realizaron varios estudios con los siguientes resultados: cariotipo 46, XX; estudio de deleciones subteloméricas (técnica MLPA) normal; ecocardiograma y electrocardiograma sin hallazgos; evaluación oftalmológica y auditiva normales; ultrasonido abdominal y transfontanelar normales. A los 4 años se le aplicó una técnica de array de hibridación genómica comparada (comparative genomic hybridization) (array-CGH) con resolución de 180 kb, que detectó una deleción causal de 8,4 Mb en la citobanda 2q31.1q31.2. La deleción de 2q31 está asociada a la malformación de mano/pie hendido, y la correlación genotipo-fenotipo indica que las deleciones intersticiales de la región 2q31.1 muestran malformaciones en los miembros si incluyen una región crítica de 2,5 Mb, que incluye el cluster de HOXD y las regiones adyacentes en sentido 5’ y 3’. Concluimos que ante un paciente con malformaciones graves y signos y síntomas superpuestos de varios síndromes, es aconsejable comenzar el plan de trabajo con array-CGH, y si esta técnica no está disponible, realizar un cariotipo de alta resolución con la intención de descartar reordenamientos cromosómicos (AU)

Severe limbs deformities are rare and its etiology is variable. There are known genetic syndromes that combine limbs deformities, mental disability and other mayor malformations, such as Cornelia de Lange syndrome. We present the case of a patient with severe deformities in 4 limbs, mental disability and minor facial features that lead to the presumptive diagnosis of Cornelia de Lange syndrome. Four years old female her parents are consanguineous and from gipsy ethnicity. History of intrauterine growth retardation, low birth weight, microcephaly and multiple deformities in both hands and both feet including split-hand deformity of the right hand. Presumptive diagnosis of Cornelia de Lange syndrome, during the first year of life these studies were performed: kariotype 46, XX, subtelomeric deletion study (MLPA technique): normal, echocardiogram and EKG without abnormalities, oftalmologic and audition evaluation: normal and cranial and abdominal ultrasound also normal. At four years old array comparative genomic hybridization 180 kb was performed and it showed a causal deletion of 8.4 Mb at cytoband 2q31.1q31.2. 2q31 deletion is associated with the split hand/foot malformation, the genotype-phenotype correlation of interstitial deletions of the 2q31.1 region shows that limbs malformation are associated to a critical 2.5 Mb deletion containing the HOXD cluster and surrounding 5’ and 3’ regions. We conclude that when a patient presents major malformations and overlapping signs and symptoms of various syndromes it is wise to begin the workup with high resolution karyotype and/or, where available, array-CGH in order to rule out cytogenetic rearrangements (AU)

Relationship of high leptin levels with an adverse lipid and insulin profile in 6-8 year-old children in Spain.

BACKGROUND AND AIMS: Leptin, an adipokine elevated in obesity, may be related to an adverse cardiovascular risk profile in childhood. However, evidence for this relationship in pre-pubertal children is scarce. We aimed to analyze the relationship between leptin levels and lipid and insulin profiles in Spanish children. METHODS AND RESULTS: Our population-based sample included 389 males and 369 females aged 6-8 years. Lipid levels were determined by standard methods, insulin by radioimmunoassay and leptin by sandwich ELISA. Leptin levels were higher in girls (8.6 ng/ml) than boys (4.7 ng/ml) (p < 0.001). Leptin increased from ages 6 to 8 in girls, but remained steady in boys. In both sexes, leptin increased significantly (p < 0.001) across weight category from normal weight to obese. Children in the highest tertile of leptin concentration showed significantly (p < 0.01) lower levels of HDL-cholesterol (HDL-C) and apolipoprotein-AI (apo-AI) and significantly higher triglyceride (TG) levels than children in lower tertiles. However, in linear regression analysis, after adjustment for body mass index (BMI), leptin only accounted for 1.5% of the variance of HDL-C in boys, and 2.6% of the variance of apo-AI in girls. Leptin was strongly and positively correlated with insulin and HOMA. Upon regression analysis, leptin contributed to over 20% of the variability in insulin and HOMA, independent of BMI. CONCLUSION: Leptin levels show sex differences in pre-pubertal children. In this age group, leptin levels are strongly related to insulin, and affect lipid profile -namely HDL-C, apo-AI and TG- particularly when leptin levels are high.

Earlier menarcheal age in Spanish girls is related with an increase in body mass index between pre-pubertal school age and adolescence.

BACKGROUND: Higher body mass index (BMI) has been associated with earlier pubertal development. OBJECTIVE: The aim of this longitudinal study was to determine menarcheal age in a Spanish cohort and to assess its association with anthropometric variables at birth, childhood and adolescence. We also analyse whether the tracking of weight between different ages could affect the timing of menarche. METHODS: The sample population included 195 randomly selected 6-8-year-old girls who participated in the baseline of the Four Provinces Study and in the follow-up of this study at 13-16 years old. Anthropometrical variables were measured and BMI and BMI z-score were calculated. Information regarding birth weight and menarche was obtained by means of self-report questionnaire. RESULTS: Correlation analysis showed a significant negative association of age at menarche with weight, BMI and BMI z-score in the baseline and follow-up groups but not with weight at birth. Fat mass at adolescence is related to a significantly earlier menarcheal age. When comparing weight categories, earliest menarcheal age is associated with an increase of BMI between 6-8-year-old and 13-16-year-old girls. CONCLUSION: In our study, high weight in girls is associated with the earliest age at menarche. This becomes a major influence when weight gain occurs between pre-pubertal school age and adolescence.

Confusión como síntoma de presentación de una pseudomigraña con pleocitosis en un paciente pediátrico / Confusion as a presentation symptom of pseudomigraine with pleocytosis in a paediatric patient

La cefalea con déficits neurológicos transitorios con pleocitosis linfocitaria en el líquido cefalorraquídeo (HaNDL) es una entidad poco frecuente y de etiología desconocida caracterizada por episodios de cefalea intensa, déficits neurológicos transitorios recurrentes durante 3 meses y pleocitosis linfocitaria. Presentamos el caso de una niña de 14 años con cefalea y vómitos de 4 días de evolución, asociando posteriormente confusión, disminución de conciencia, afasia, paresia facial periférica, ataxia y febrícula durante 24 h. El análisis del LCR mostró pleocitosis (110 leucocitos/ml) y proteinorraquia (87 mg/dl). El electroencefalograma mostraba enlentecimiento generalizado en el momento agudo y posteriormente actividad lenta focalizada izquierda. En los siguientes 2 meses presentó 7 nuevos episodios de cefalea migrañosa permaneciendo asintomática después. Es el primer caso pediátrico de HaNDL que se presenta como agitación y/o estado confusional. Esta entidad debe incluirse en el diagnóstico diferencial ante cuadros de cefalea y alteración de conciencia para evitar tratamientos prolongados o pruebas invasivas innecesarias

Transient headache and neurological deficits with cerebrospinal fluid lymphocytic pleocytosis (Handl) syndrome is a rare condition of unknown origin that is characterized by episodes of severe headache, transient neurological deficits that recur over less than 3 months, and lymphocytic pleocytosis in CSF. We report the case of a 14 year-old girl who presented with headache and vomiting that lasted 4 days, later combined with a clinical presentation of confusion, with a decrease in the level of consciousness, aphasia, peripheral facial paralysis, ataxia and fever for 24 hours. CSF analysis showed pleocytosis (110 cells/ml) and proteinorrachia (87 mg/dl). Electroencephalogram in the acute time showed generalized slowing, and later a focal slowing in the left hemisphere. She suffered 7 episodes of migraine (severe headache and vomiting) in the following two months, remaining asymptomatic thereafter. This is the first pediatric case published in the literature that presents with an agitated and/or confused state. This condition must be considered in the differential diagnosis of patients with headache and acute altered level of consciousness, in order to avoid prolonged treatments or unnecessary invasive testing

Elevada prevalencia de déficit de vitamina D entre los niños y adolescentes obesos españoles / High prevalence of vitamin D deficiency among spanish obese children and adolescents

INTRODUCCIÓN: El déficit de vitamina D ha sido relacionado con manifestaciones extraesqueléticas, como insulinorresistencia, diabetes mellitus tipo 2 y enfermedad cardiovascular. El objetivo de este estudio es determinar la prevalencia del déficit de vitamina D en niños obesos españoles y analizar la relación entre niveles de vitamina D y alteraciones del metabolismo hidrocarbonado. PACIENTES Y MÉTODOS: Estudio descriptivo, transversal, donde se recogieron datos clínicos y analíticos de 120 niños obesos y 50 niños con normopeso atendidos en las consultas externas de Pediatría entre enero del 2011 y enero del 2013. RESULTADOS: Los niveles medios de vitamina D fueron de 19,5 ng/ml en obesos y de 31,6 ng/ml en controles. El 58,3% de los obesos presentaron déficit de vitamina D frente al 10% de los controles. Los niveles de vitamina D eran significativamente menores en invierno. Se encontraron cifras más elevadas de HOMA-SDS (3,8 versus 2,4) y triglicéridos (97 versus 81 mg/dl) en los obesos con déficit de vitamina D respecto a los obesos que no tenían déficit. Se halló una correlación negativa entre los niveles de vitamina D y el valor absoluto de HOMA (r = −0,2; p = 0,04), que no se mantiene al analizar HOMA-SDS. CONCLUSIONES: Existe una elevada prevalencia de déficit de vitamina D entre la población obesa infantil de etiología multifactorial. Los niveles deficitarios de vitamina D podrían influir en el desarrollo de insulinorresistencia y diabetes mellitus tipo 2 en la población obesa

INTRODUCTION: Vitamin D deficiency has been associated with extra-skeletal outcomes such as, insulin resistance, type 2 diabetes, and cardiovascular disease. The aim of this study is to determine the prevalence of vitamin D deficiency among obese children and adolescents in Spain and to analyze the relationship between 25-OH-vitamin D (25-OH-D) levels and markers of abnormal glucose metabolism. PATIENTS AND METHODS: A cross-sectional study was conducted in which the clinical and biochemical data were recorded for 120 obese and 50 non-overweight children in Pediatric Clinics from January 2011 to January 2013. RESULTS: The mean 25-OH-D levels among obese children was 19.5 ng/ml and among non-overweight children was 31.6 ng/ml. 58,3% of obese subjects, and 10% of non-overweight subjects had vitamin D deficiency. Serum 25-OH-D levels were lower in winter. Higher HOMASDS (3.8 versus 2.4), and triglycerides (97 versus 81 mg/dl) were found in vitamin D deficient obese children compared to obese children without vitamin D deficiency. A negative correlation was found between 25-OH-D levels and HOMA in absolute values (r=-0.2; P=0.04) that was not maintained when HOMA-SDS was analyzed. CONCLUSIONS: There is a high prevalence of vitamin D deficiency among obese children with a multifactorial etiology. A lower 25-OH-D level could be a risk factor for developing insulin resistance and type 2 diabetes in obese population

[High prevalence of vitamin D deficiency among spanish obese children and adolescents]. / Elevada prevalencia de déficit de vitamina D entre los niños y adolescentes obesos españoles'

INTRODUCTION: Vitamin D deficiency has been associated with extra-skeletal outcomes such as, insulin resistance, type 2 diabetes, and cardiovascular disease. The aim of this study is to determine the prevalence of vitamin D deficiency among obese children and adolescents in Spain and to analyze the relationship between 25-OH-vitamin D (25-OH-D) levels and markers of abnormal glucose metabolism. PATIENTS AND METHODS: A cross-sectional study was conducted in which the clinical and biochemical data were recorded for 120 obese and 50 non-overweight children in Pediatric Clinics from January 2011 to January 2013. RESULTS: The mean 25-OH-D levels among obese children was 19.5 ng/ml and among non-overweight children was 31.6 ng/ml. 58,3% of obese subjects, and 10% of non-overweight subjects had vitamin D deficiency. Serum 25-OH-D levels were lower in winter. Higher HOMA-SDS (3.8 versus 2.4), and triglycerides (97 versus 81 mg/dl) were found in vitamin D deficient obese children compared to obese children without vitamin D deficiency. A negative correlation was found between 25-OH-D levels and HOMA in absolute values (r=-0.2; P=.04) that was not maintained when HOMA-SDS was analyzed. CONCLUSIONS: There is a high prevalence of vitamin D deficiency among obese children with a multifactorial etiology. A lower 25-OH-D level could be a risk factor for developing insulin resistance and type 2 diabetes in obese population.

[Confusion as a presentation symptom of pseudomigraine with pleocytosis in a paediatric patient]. / Confusión como síntoma de presentación de una pseudomigraña con pleocitosis en un paciente pediátrico.

Transient headache and neurological deficits with cerebrospinal fluid lymphocytic pleocytosis (Handl) syndrome is a rare condition of unknown origin that is characterized by episodes of severe headache, transient neurological deficits that recur over less than 3 months, and lymphocytic pleocytosis in CSF. We report the case of a 14 year-old girl who presented with headache and vomiting that lasted 4 days, later combined with a clinical presentation of confusion, with a decrease in the level of consciousness, aphasia, peripheral facial paralysis, ataxia and fever for 24 hours. CSF analysis showed pleocytosis (110 cells/ml) and proteinorrachia (87 mg/dl). Electroencephalogram in the acute time showed generalized slowing, and later a focal slowing in the left hemisphere. She suffered 7 episodes of migraine (severe headache and vomiting) in the following two months, remaining asymptomatic thereafter. This is the first pediatric case published in the literature that presents with an agitated and/or confused state. This condition must be considered in the differential diagnosis of patients with headache and acute altered level of consciousness, in order to avoid prolonged treatments or unnecessary invasive testing.

Presentación caso clínico: síntomas depresivos en adolescentes con síndrome de Klinefelter / Clinica case report: depressive symptoms in an adolescent with Klinefelter syndrome

El síndrome de Klinefelter (47XXY) es una aneuploidía cromosómica caracterizada por alteraciones metabólicas y hormonales secundarias fundamentalmente al déficit de testosterona que presentan estos individuos desde la infancia. Asimismo, los niños y adolescentes con este tipo de trastorno presentan un riesgo incrementado de padecer patología de corte afectivo, presumiblemente relacionada con el cuadro de adaptación y también con el propio déficit hormonal. Con el objetivo de paliar la sintomatología depresiva, se han empleado medidas convencionales que incluyen el tratamiento psicofarmacológico y psicoterapéutico. En adultos deprimidos con déficit de testosterona se ha empleado dicha hormona de forma exitosa. El propósito de este caso clínico es recoger la evolución de los síntomas depresivos en un adolescente con Klinefelter que recibió tratamiento psicoterapéutico y hormonal con testosterona (AU)

Klinefelter syndrome (47, XXY) is the most common sex chromosome aneuploidy in males. Principal effects include metabolic and endocrine disorders related to testosterone deiciency. Although not all males develop the characteristic symptoms of Klinefelter syndrome, testosterone deiciency is present in all of them. An increased incidence of anxiety and depression is reported in boys and adolescents with 47, XXY. Depressive symptoms have been associated to testosterone deiciency and also as an adaptive reaction to disease. Psychiatric treatment of depression in patients with Klinefelter syndrome has been limited to drug therapy and supportive psychotherapy. However, studies suggest that testosterone replacement may have an antidepressant effect in depressed adults with testosterone deiciency. The purpose of this case study is to report the course of depressive symptoms in an adolescent subject with Klinefelter syndrome treated with testosterone and psychotherapy (AU)

Masa ventricular izquierda, espirometría basal forzada y perfil de adipocitocinas en niños obesos con y sin síndrome metabólico / Left ventricular mass, forced baseline spirometry and adipocytokine profiles in obese children with and without metabolic syndrome

Introducción: En los últimos años, se ha constatado un aumento de las alteraciones de la función cardiaca y pulmonar entre los pacientes obesos. Asimismo, también se ha demostrado que la obesidad es un estado de inflamación crónica. Por ello, hipotetizamos que los niños obesos con síndrome metabólico presentan un porcentaje superior de hipertrofia de ventrículo izquierdo y una espirometría alterada, secundaria a un mayor grado de inflamación. Pacientes y métodos: Estudio de la masa ventricular izquierda mediante ecografía, análisis de espirometría basal forzada mediante espirómetro (FlowScreen) y determinación de perfil de adipocitocinas (adiponectina, IL-6, leptina, MCP-1, PCR-hs, RBP-4, TNF-alfa y visfatina) a niños peripuberales obesos con y sin síndrome metabólico. Resultados: Se incluyó en el estudio a 41 pacientes (20 niñas y 21 niños), 20 de los cuales (10 niños y 10 niñas) presentaban síndrome metabólico. De las adipocitocinas estudiadas, leptina, PCR-hs y MCP-1, y el cociente leptina/adiponectina mostraron valores sustancialmente superiores en el grupo de síndrome metabólico (p<0,01). El análisis de la masa ventricular izquierda y la espirometría no evidenciaron diferencias entre los 2 grupos estudiados. Sin embargo, considerando la muestra completa, el 9,5% de los sujetos tenían ya una hipertrofia ventricular izquierda. Por otro lado, no se encontraron correlaciones significativas entre los datos antropométricos y el perfil de adipocitocinas, ni tampoco con masa ventricular izquierda ni con la espirometría. Conclusión: En el momento del estudio, la masa ventricular izquierda y la espirometría parecen no relacionarse con parámetros inflamatorios en el niño obeso(AU)

Introduction: Recent reports have shown an increase in changes in cardiac and pulmonary function among obese patients. Furthermore, it has also been demonstrated that obesity is a state of chronic inflammation. We hypothesized that obese children with metabolic syndrome exhibit a higher percentage of left ventricular hypertrophy and altered spirometry values due to higher levels of inflammation. Patients and methods: Left ventricular mass was studied using echocardiography, baseline forced spirometry by spirometer (FlowScreen) and adipocytokine profiles (adiponectin, IL-6, leptin, MCP-1, PCR-Hs, RBP-4, TNF-alpha and visfatin) were evaluated in peripubertal obese children with and without metabolic syndrome. Results: Forty-one patients (20 girls and 21 boys) were included in the study, 20 of whom (10 boys and 10 girls) were subjects with metabolic syndrome. Of the adipocytokines studied, only leptin, hs-CRP, MCP-1, and the leptin/adiponectin ratio yielded values that were substantially greater in the group with metabolic syndrome (P<0.01). An analysis of left ventricular mass index and baseline spirometry showed no differences between the groups studied. However, of the entire cohort, 9.5% had left ventricular hypertrophy. No significant relationship was found between anthropometric data and adipocytokines and the parameters used to study left ventricular mass and spirometry values on the other. Conclusion: At the time the study was performed, left ventricular mass and baseline forced spirometry did not appear to be influenced by inflammatory mechanisms(AU)

[Left ventricular mass, forced baseline spirometry and adipocytokine profiles in obese children with and without metabolic syndrome]. / Masa ventricular izquierda, espirometría basal forzada y perfil de adipocitocinas en niños obesos con y sin síndrome metabólico.

INTRODUCTION: Recent reports have shown an increase in changes in cardiac and pulmonary function among obese patients. Furthermore, it has also been demonstrated that obesity is a state of chronic inflammation. We hypothesized that obese children with metabolic syndrome exhibit a higher percentage of left ventricular hypertrophy and altered spirometry values due to higher levels of inflammation. PATIENTS AND METHODS: Left ventricular mass was studied using echocardiography, baseline forced spirometry by spirometer (FlowScreen) and adipocytokine profiles (adiponectin, IL-6, leptin, MCP-1, PCR-Hs, RBP-4, TNF-( and visfatin) were evaluated in peripubertal obese children with and without metabolic syndrome. RESULTS: Forty-one patients (20 girls and 21 boys) were included in the study, 20 of whom (10 boys and 10 girls) were subjects with metabolic syndrome. Of the adipocytokines studied, only leptin, hs-CRP, MCP-1, and the leptin/adiponectin ratio yielded values that were substantially greater in the group with metabolic syndrome (P<.01). An analysis of left ventricular mass index and baseline spirometry showed no differences between the groups studied. However, of the entire cohort, 9.5% had left ventricular hypertrophy. No significant relationship was found between anthropometric data and adipocytokines and the parameters used to study left ventricular mass and spirometry values on the other. CONCLUSION: At the time the study was performed, left ventricular mass and baseline forced spirometry did not appear to be influenced by inflammatory mechanisms.

Pubertad precoz periférica: fundamentos clínicos y diagnóstico-terapéuticos / Peripheral precocious puberty: clinical, diagnostic and therapeutical principles

La pubertad precoz periférica (PPP) es el resultado de la aparición anormalmente precoz de la pubertad, debido al aumento de esteroides sexuales sin evidenciarse activación del eje hipotálamo-hipófiso-gonadal. Es una patología mucho más infrecuente que la pubertad precoz central (PPC) y es secundaria a trastornos de origen genético o a patologías adquiridas muy heterogéneas. En los últimos años, los avances moleculares han contribuido notablemente en el conocimiento de la fisiopatología de algunos de estos trastornos, muy en particular, en el síndrome de McCune-Albright y la testotoxicosis. Asimismo, las técnicas de imagen y de cuantificación hormonal han permitido mejorar el diagnóstico precoz de trastornos adquiridos, especialmente, patología tumoral causante de PPP. Desafortunadamente, los avances médicos objetivados en el diagnóstico no se han visto reflejados en el tratamiento médico del síndrome de McCune-Albright y la testotoxicosis. A pesar de haber probado diversas opciones terapéuticas en ambos trastornos, a día de hoy, los resultados son muy desalentadores, especialmente en el síndrome de McCune-Albright. A nuestro entender, este fracaso se sustenta en la ausencia de ensayos clínicos bien diseñados con la inclusión de un número adecuado de pacientes seguidos hasta el final de su crecimiento(AU)

Peripheral precocious puberty (PPP) is the result of the presence of precocious puberty due to the increase of sex steroids with no evidence of activation of the hypothalamic-pituitary-gonadal axis. It is much less common than central precocious puberty (CPP) and it is secondary to either genetic disorders or very heterogeneous acquired diseases. In recent years, molecular advances have made remarkable progress in understanding the pathophysiology of some of these disorders, most notably in McCune-Albright syndrome and testotoxicosis. In addition, new imaging techniques and better hormone assays have improved the early diagnosis of acquired disorders, particularly tumour disease causing PPP. Unfortunately, medical advances in the diagnosis of these disorders have not been reflected in the medical treatment of McCune-Albright syndrome and testotoxicosis. Despite having tried various treatment options in both disorders, the results are very disappointing, especially in patients with McCune-Albright syndrome. To our knowledge, this failure is based on the absence of well-designed clinical trials that include an adequate number of patients followed up until the end of their growth(AU)

The insulin sensitizing effects of PPAR-γ agonist are associated to changes in adiponectin index and adiponectin receptors in Zucker fatty rats.

The adiponectin high molecular weight isoform (HMW-adp) and its relation with the other adiponectin isoforms (adiponectin index, S(A)), have been identified as essential for the adiponectin insulin sensitizing effects. The objective of this study is to gain further insight on the effect of the insulin sensitizing agents, PPAR-γ agonists, on the distribution of the adiponectin isoforms and the adiponectin receptors, adipoR1 and adipoR2 in an animal model of obesity and insulin resistance. To achieve the objective, Zucker fatty rats were treated with pioglitazone, rosiglitazone or placebo for six weeks. At the end of the treatment, total adiponectin, adiponectin isoforms and adiponectin receptors expression were measured. In order to see the possible relation with insulin sensitivity parameters, HOMA-IR, muscle insulin-stimulated glucose transport, muscle GLUT4 and plasma free fatty acids were also measured. The two glitazones improved insulin sensitivity and both muscle insulin-stimulated glucose transport and GLUT4 total content. Total plasma adiponectin and visceral fat HMW-adp were increased only by pioglitazone. On the other hand, both glitazones changed the distribution of adiponectin isoforms in plasma, leading to an increase in the S(A) of 21% by pioglitazone and 31% by rosiglitazone. Muscle adipoR1 expression was increased by both glitazones whereas liver adipoR2 expression was increased by rosiglitazone and tended to increase in the pioglitazone group. The insulin sensitizing action of glitazones is mediated, at least in part, by their effect on muscle insulin-stimulated glucose transport and by their direct influence on the adiponectin index and the adiponectin receptors expression.

[Peripheral precocious puberty: clinical, diagnostic and therapeutical principles]. / Pubertad precoz periférica: fundamentos clínicos y diagnóstico-terapéuticos.

Peripheral precocious puberty (PPP) is the result of the presence of precocious puberty due to the increase of sex steroids with no evidence of activation of the hypothalamic-pituitary-gonadal axis. It is much less common than central precocious puberty (CPP) and it is secondary to either genetic disorders or very heterogeneous acquired diseases. In recent years, molecular advances have made remarkable progress in understanding the pathophysiology of some of these disorders, most notably in McCune-Albright syndrome and testotoxicosis. In addition, new imaging techniques and better hormone assays have improved the early diagnosis of acquired disorders, particularly tumour disease causing PPP. Unfortunately, medical advances in the diagnosis of these disorders have not been reflected in the medical treatment of McCune-Albright syndrome and testotoxicosis. Despite having tried various treatment options in both disorders, the results are very disappointing, especially in patients with McCune-Albright syndrome. To our knowledge, this failure is based on the absence of well-designed clinical trials that include an adequate number of patients followed up until the end of their growth.