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INTRODUCTION: In females with congenital adrenal hyperplasia (CAH), the influence of hyperandrogenism and glucocorticoid supplementation on neurocognition is controversial. OBJECTIVES: To identify possible differences in visual working memory and verbal memory in adolescent girls with CAH due to 21-hydroxylase deficiency and matched controls. Moreover, to study if any relationship between variables associated with CAH and the scores of the selected memory tests was present. MATERIAL AND METHODS: In total 39 individuals were studied, female adolescents with CAH and age and pubertal stage matched healthy male and female controls (13 in each group). Sociodemographic, clinical, hormonal, and neurocognitive variables were explored. In female adolescents with CAH, variables related to the disease (age at diagnosis, clinical form, time since diagnosis, and glucocorticoid doses) were correlated with the scores obtained for neurocognitive variables. RESULTS: The mean age was 13.9 ± 3.3 years. In female adolescents with CAH the results were worse compared to controls in Free Recall (p = 0.039) and in Visual Memory Span score (p = 0.016). Age at diagnosis was negatively correlated to number of hits (p = 0.04), number recalled backward (p = 0.03), Visual Memory Span test score (p = 0.04) and Total Free Recall (p = 0.04), i.e., memory was worse with later diagnosis. CONCLUSIONS: Female adolescents with CAH had worse visual working memory compared to matched controls, but not in verbal memory. Age at diagnosis was negatively associated with the memory tests.
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Hiperplasia Suprarrenal Congênita , Humanos , Hiperplasia Suprarrenal Congênita/complicações , Feminino , Adolescente , Criança , Memória de Curto Prazo/fisiologia , Memória/fisiologia , Testes Neuropsicológicos , MasculinoRESUMO
BACKGROUND: Hyperandrogenism and supraphysiologic glucocorticoid replacement may lead to subclinical atherosclerosis in people with congenital adrenal hyperplasia (CAH) and predispose the development of cardiovascular diseases from an early age. OBJECTIVES: To determine if cardiometabolic risk factors and subclinical atherosclerosis are more frequent in patients with CAH due to 21-hydroxylase deficiency (21OHD) and if there is an association with clinical, hormonal and treatment of 21OHD. MATERIAL AND METHODS: A descriptive prospective cross-sectional study exploring clinical variables, biochemical, hormonal variables, endothelial dysfunction (flow-mediated dilation < 5%) and carotid intima media thickness (≥ 95 percentile in adolescents and ≥ 75 percentile in adults) and epicardial fat. Adolescents and young patients with 21OHD were compared with controls matched by age, sex, body mass index and Tanner stage. RESULTS: Forty four subjects (22 with CAH), 36 (82%) females, with a mean age of 17.1 ± 5.5 years (range 10-30 years) were included. Family history revealed diabetes, hypertension, and hypercholesterolemia with high frequencies in both groups. The blood pressure was similar in both groups. Blood glucose levels were lower and triglycerides higher in patient (both p < 0.01). Epicardial fat was similar between groups and in patients with CAH it was related to cholesterol levels ââ(r = 0.679, p < 0.01), time since CAH diagnosis (r = 0.462, p = 0.03) and glucocorticoid dose (r = 0.499, p = 0.04). Carotid intima media thickness (CIMT) had a tendency to be increased in patients (p = 0.07) and was directly related to 17-hydroxyprogesterone (r = 0.510, p = 0.018), diastolic blood pressure (r = 0.444, p = 0.04) and the homeostatic model assessment (HOMA) index (r = 0.507, p = 0.01). Endothelial dysfunction was not different between groups. CONCLUSIONS: Some cardiometabolic risk factors were increased in patients with CAH and were associated with clinical, hormonal and treatment parameters of CAH. Cardiometabolic risk should be evaluated regularly in patients with CAH.
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Hiperplasia Suprarrenal Congênita , Aterosclerose , Doenças Cardiovasculares , Feminino , Humanos , Adolescente , Adulto Jovem , Criança , Adulto , Masculino , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/epidemiologia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/complicações , Espessura Intima-Media Carotídea , Glucocorticoides/uso terapêutico , Estudos Transversais , Estudos Prospectivos , Fatores de Risco , Fatores de Risco de Doenças CardíacasRESUMO
Introducción: La práctica de la cirugía genital es frecuente en infantes y adolescentes diagnosticados de intersexualidad. Una de sus principales consecuencias se refleja en la personalidad del paciente. Existen numerosos estudios en población adulta, pero son escasos en edades pediátricas. El dibujo constituye un instrumento valioso para la exploración psicológica en edades tempranas. Objetivo: Identificar las características psicológicas de infantes y adolescentes con tratamiento quirúrgico de los genitales, y de su desarrollo psicológico en el momento de la valoración. Métodos: Estudio transversal descriptivo y metodología cualitativa. La muestra la integraron 15 participantes entre 6 y 12 años, con hiperplasia adrenal congénita y cirugía genital. De ellos, 4 con asignación al sexo masculino y 11 con asignación femenina. Todos residentes en La Habana, Cuba y captados de las consultas de seguimiento de los servicios de Endocrinología del Instituto de Endocrinología y hospitales pediátricos. Se aplicaron las técnicas psicográficas (dibujo espontáneo, dibujo temático de la familia y dibujo temático "Así soy yo"). Resultados: El desarrollo psicológico se correspondió con la edad cronológica. El 100 por ciento presentó un pensamiento coherente y estructurado. El 50 por ciento presentó indicadores emocionales que aluden a insatisfacción con el propio yo, angustia (40 por ciento), y falta de aceptación del propio cuerpo (70 por ciento); además, expresaron dificultades en la comunicación familiar (60 por ciento). Conclusiones: Los indicadores globales relevantes de los dibujos denotaron daño emocional, dificultades en la aceptación, percepción y representación del esquema corporal y también en la comunicación social y familiar. Resulta impostergable intervenir en las causas del malestar y los problemas psicológicos de los sujetos estudiados para evitar que se desarrollen enfermedades psiquiátricas en la edad adulta(AU)
Introduction: The practice of genital surgery is frequent in infants and adolescents diagnosed with intersex. One of the main consequences is reflected in the patient´s personality. There are numerous studies in the adult population; however, they are rare in pediatric ages. Drawing is a valuable tool for psychological exploration in early ages. Objective: Identify the psychological characteristics of infants and adolescents with surgical treatment of the genitalia, and to characterize their psychological development. Method: Descriptive cross-sectional study and qualitative methodology. The sample was made up of 15 infants and adolescents between 6 and 12 years old with congenital adrenal hyperplasia and genital surgery. 4 of them with male sex assignment and 11 with female assignment, coming from the primary care level, residents in Havana, Cuba, recruited in the follow-up consultations of the endocrinology services of the Institute of Endocrinology and pediatric hospitals. The psychographic techniques (spontaneous drawing, thematic drawing of the family and thematic drawing called "I am like this" were applied). The study complied with the basic ethical aspects of scientific research. Results: Psychological development corresponded with chronological age. 100 percent of the patients presented a coherent and structured thinking. 50 percent presented emotional indicators that allude to dissatisfaction with one's own self, anguish (40 percent), and lack of acceptance of one's own body (70 percent); in addition, they expressed difficulties in family communication (60 percent). Conclusions: The relevant global indicators of the drawings denoted emotional damage, difficulties in the acceptance, perception and representation of the body scheme and also in social and family communication. It cannot be postponed an intervention in the discomfort causes and psychological problems of the patients studied, in order to avoid that psychiatric diseases can be developed in adults ages(AU)
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Humanos , Masculino , Feminino , Criança , Atenção Primária à Saúde , Hiperplasia Suprarrenal Congênita/psicologia , Cirurgia de Readequação Sexual/métodos , Epidemiologia Descritiva , Estudos Transversais , Técnicas PsicológicasRESUMO
BACKGROUND: The effects of hyperandrogenism and steroid treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) are controversial. OBJECTIVES: The objectives of this study were to characterize BMD and fractures in patients with CAH and to identify whether there is an association between alterations in BMD, nutritional status, and variables related to the disease. METHODS: A cross-sectional descriptive study was conducted to explore clinical, hormonal, dairy consumption, physical activity, and BMD variables in patients with CAH due to 21-hydroxylase deficiency and controls matched by age, gender, skin color, body mass index, and Tanner scale. RESULTS: Fifty subjects (CAH n = 25; females n = 42 [84%]) with a mean age of 15.9 ± 5.8 years were included in the study. White skin color predominated in 34 subjects (68%), mestizo in 11 (22%), and black in 5 (10%). In patients with CAH, BMD lumbar spine was decreased compared to that in controls (0.83 ± 0.23 vs. 0.98 ± 0.26 g/cm3, p = 0.004). BMD femur was also decreased in patients with CAH; however, this was not significant (0.95 ± 0.20 vs. 1.04 ± 0.24 g/cm3, p = 0.17). There was a positive relationship between age at diagnosis, age of initiation of glucocorticoid treatment, and testosterone levels with all measurements of BMD. The daily glucocorticoid dose was negatively related to BMD. No fractures were found. CONCLUSIONS: Patients with CAH had decreased BMD, especially in lumbar spine. Increased androgen exposure seemed to improve, while increased glucocorticoid dose impaired BMD.
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Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Densidade Óssea/efeitos dos fármacos , Fêmur/diagnóstico por imagem , Fludrocortisona/uso terapêutico , Glucocorticoides/uso terapêutico , Hidrocortisona/uso terapêutico , Vértebras Lombares/diagnóstico por imagem , Absorciometria de Fóton , Adolescente , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Adulto , Criança , Estudos Transversais , Feminino , Fêmur/efeitos dos fármacos , Fludrocortisona/administração & dosagem , Glucocorticoides/administração & dosagem , Humanos , Hidrocortisona/administração & dosagem , Vértebras Lombares/efeitos dos fármacos , Masculino , Adulto JovemRESUMO
Introducción: la hiperplasia suprarrenal congénita (HSC) es el desorden adrenal más común en la infancia y la causa más frecuente de ambigüedad sexual. La forma clásica, que representa los casos más severos de este déficit, se asocia en un 75 % con pérdida de sal. Por otra parte, en los recién nacidos (RN) del sexo femenino se pueden presentar grados severos de virilización de genitales. Objetivo: presentar los resultados (durante diez años), del Programa Cubano de Pesquisa Neonatal (PN) de la HSC, soportado en un procedimiento inmunoenzimático desarrollado en Cuba. Resultados: en el período de enero 2005 a diciembre 2014, se han estudiado 1 140 882 RN y se detectaron 56 niños con HSC, para una incidencia de 1:20 373 RN. La cobertura del programa se ha incrementado hasta llegar en el año 2013 al 99.34 % de todos los RN cubanos. Conclusiones: la existencia del Programa Cubano de PN de HSC, ha permitido estimar la incidencia e incrementar el conocimiento de esta enfermedad. La PN ha posibilitado el diagnóstico precoz en la variedad perdedora de sal, contribuyendo a la disminución de la mortalidad infantil. El Programa ha favorecido a pacientes con formas virilizantes de la enfermedad, mediante la asignación correcta del sexo
Introduction: Congenital Adrenal Hyperplasia (HSC) is the most common adrenal disorder in childhood and the most frequent cause of sexual ambiguity. The classic form, which represents the most severe causes of this deficit, is associated in 75 % with loss of salt. On the other hand, in the NB of the female sex that present severe degrees of virilization of the genitals. Objective: To present result of the application for ten years of the Cuban Neonatal Research Program of the HSC, supported by an inmmunoenzymatic procedure developed in Cuba. Result: In the period from January 2005 to December 2014, using the UMELISA 17 OH PROGESTERONA NEONATAL, 1 140882 RN were detected, for an incidence of 1:20373 RN. The coverage of the program has been increasing until2013 reaching 99.34 % of all Cuban RN. Conclusion: The existence of the Cuban HSC PN Program, has allowed estimating the incidence and increase knowledge of this disease in our country. PN has made possible the early diagnosis of patients with the salt losing variety, contributing to decrease in infant mortality nationwide. The Program has favored patients with virilizing form of the disease, through the correct assignment of sex
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Humanos , Masculino , Feminino , Recém-Nascido , Hiperplasia Suprarrenal Congênita , Recém-Nascido , Programas Nacionais de SaúdeRESUMO
BACKGROUND: There are several studies that show a good genotype-phenotype correlation in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). However, there is well-documented evidence of inconsistency in some cases. OBJECTIVES: To determine if there is a correlation between the identified mutations and the clinical manifestations of 21OHD in the Cuban population. METHODS: A cross-sectional descriptive study of all patients referred for a molecular diagnosis of 21OHD in Cuba from January 2000 to December 2018. The clinical manifestations of each patient were identified and classified according to the phenotype. The CYP21A2 gene was analyzed for the presence of 5 point mutations involved in the pathogenesis of 21OHD (intron 2, deletion of 8bp, I172N, P30L, and Q318X); correlation was sought between the phenotypic characteristics and the frequencies of point mutations in the patients using the Spearman test. RESULTS: A total of 55 patients underwent direct analysis of the CYP21A2 gene in order to determine the presence of the 5 point mutations. Point mutations were identified in 31 patients, which corresponded to 56%. A statistically significant genotype-phenotype correlation was found. CONCLUSIONS: The correlation between the detected molecular defect and the clinical expression of 21OHD was reasonable in the Cuban population, which could allow phenotypic predictions to be made from the genotype.
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Introducción: La terapia de reemplazo con glucocorticoides sigue siendo el paradigma de tratamiento en las formas clásicas de la hiperplasia suprarrenal congénita. Sus efectos sobre la mineralización ósea no están totalmente claros. Objetivo: Describir las variables relacionadas con la masa ósea en pacientes con HSC que reciben tratamiento esteroideo sustitutivo. Método: Se realizó un estudio descriptivo transversal que exploró variables clínicas, bioquímicas, hormonales y de mineralización óseaen 25 pacientes con hiperplasia suprarrenal congénita por déficit de 21OHasa y tratamiento esteroideo. Resultados: 21 (84,0 por ciento) femeninas, el mayor grupo correspondió a los adolescentes entre 10 y 19 años (52 por ciento). Predominaron las formas clásicas con 22 pacientes (88,0 por ciento), de ellas 13 (52 por ciento) fueron perdedoras de sal, 9 virilizantes simples (36,0 por ciento) y solo 3 (12,0 por ciento) formas no clásicas. El esteroide más utilizado fue la hidrocortisona en 16 pacientes (64 por ciento), a una dosis media de 22,10±12,00 mg diarios, correspondiendo con 17,09±5,71 mg/m2sc/día y como promedio llevaban 14,02±6,57 años de terapéutica sustitutiva. No se detectaron alteraciones del metabolismo fosfocálcico. La densidad y el contenido mineral óseo en columna y en fémur mostraron valores superiores en las formas no clásicas de la enfermedad, seguidos de la virilizante simple y finalmente los pacientes perdedores de sal, en ninguno de los casos con significación estadística. Conclusiones: Los pacientes con hiperplasia suprarrenal congénita del presente estudio mostraron en su mayoría una masa ósea conservada(AU)
Introduction: Glucocorticoid replacement therapy is still the treatment´s paradigm in the classic forms of congenital adrenal hyperplasia. Its effects on bone mineralization are not entirely clear. Objective: Describe bone mass-related variables in congenital adrenal hyperplasia patients receiving substitute steroid treatment. Method: A cross-sectional descriptive study was conducted exploring clinical, biochemical, hormonal and bone mineralization variables in 25 patients with congenital adrenal hyperplasia caused by 21OHase deficiency and steroid treatments. Results: 21 women (84.0 percent); the largest group was of adolescents between the age of 10 and 19 years (52 percent).Classical forms predominated with 22 patients (88.0 percent), including 13 of them (52 percent) that were salt losers, 9 simple virilizers (36.0 percent) and only 3 (12.0 percent) of non-classical forms. The most commonly used steroid was hydrocortisone in 16 patients (64 percent), at an average dose of 22.10±12.00 mg daily, corresponding to 17.09±5.71 mg/m2sc/day and on average carried 14.02±6.57 years of substitute therapy. No alterations in the phosphocalcic metabolism were detected. Density and bone mineral content in the spinal column and femur showed higher values in non-classical forms of the disease, followed by simple virilizing and finally the salt loser patients, in none of the cases with statistical significance. Conclusions: Patients with congenital adrenal hyperplasia in this study showed mostly preserved bone mass(AU)
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Humanos , Feminino , Criança , Adolescente , Calcificação Fisiológica/fisiologia , Hidrocortisona/uso terapêutico , Densidade Óssea , Hiperplasia Suprarrenal Congênita/terapia , Epidemiologia Descritiva , Estudos TransversaisRESUMO
Introducción: El síndrome de Mc Cune-Albright (SMA) es una rara entidad asociada con la displasia fibrosa poliostótica, con la presencia de manchas de color café con leche y también con la hiperfunción endocrina. La alteración hormonal más frecuente es la pubertad precoz. El SMA se debe a mutaciones activadoras del gen GNAS1. Objetivo: Describir las características clínicas de una paciente con síndrome de Mc Cune-Albright con una pubertad precoz. Métodos: Se realizó una revisión de la historia clínica como fuente primaria y fueron incorporados todos los elementos clínicos, bioquímicos, imagenológicos y genéticos que conformaron la valoración integral de la paciente. Presentación de caso: Se presenta un caso poco frecuente de síndrome de Mc Cune-Albright en una niña de siete años de edad con mamas Tanner II-III, sangrado vaginal, vello axilar y pubiano escaso, manchas café con leche y lesiones óseas. Lleva tratamiento con tamoxifeno, lo que ha logrado mantener frenada la progresión del desarrollo puberal. Conclusiones: Aunque esta entidad es de carácter benigno y la prevalencia es extremadamente baja, el inicio puberal precoz y el compromiso de la talla final pueden producir impacto psicológico en la calidad de vida y en el desarrollo normal del individuo(AU)
Introduction: Mc Cune-Albright syndrome (SMA, by its acronym in Spanish) is a rare entity associated with polyostotic fibrous dysplasia, with the presence of brown spots with milk and also with endocrine hyperfunction. The most common hormonal alteration is precocious puberty. SMA is caused by GNAS1 gene´s activator mutations. Objective: Describe the clinical characteristics of a patient with Mc Cune-Albright syndrome with precocious puberty. Methods: A review of the medical history was carried out as a primary source and all the clinical, biochemical, imaging and genetic elements that made up the comprehensive assessment of the patient were incorporated. Case presentation: A rare case of Mc Cune-Albright syndrome occurs in a seven-year-old girl with Tanner II-III breasts, vaginal bleeding, axillary and pubic hair, brown spots with milk and bone lesions. She is treated with tamoxifen, which has managed to keep the progression of pubertal development slow. Conclusions: Although this entity is benign in nature and the prevalence is extremely low, early pubertal onset and the compromise of the final size can have a psychological impact on the quality of life and normal development of the individual(AU)
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Humanos , Feminino , Criança , Puberdade Precoce/diagnóstico por imagem , Qualidade de Vida , Tamoxifeno/uso terapêutico , Displasia Fibrosa Poliostótica/diagnóstico por imagem , Prontuários MédicosRESUMO
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. OBJECTIVES: To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mutations in the Cuban population. METHODS: Cross-sectional descriptive study that included all patients diagnosed with 21OHD from January 2000 to December 2018. For the molecular analysis of the CYP21A2 gene, a protocol was used that used the polymerase chain reaction in 2 stages; in the first stage genomic DNA was amplified and 5 point mutations were detected in the second stage (Intron 2, Deletion of 8 bp, G318X, I172N and P30L). RESULTS: The 5 point mutations were identified in 31 of the 55 (56%) studied patients, 16/21 (76%) in the salt-wasting, 12/18 (67%) in the simple virilizing and 3/16 (19%) in the nonclassical form. The Intron 2 mutation was the most frequent, followed by G318X and 8 bp deletion. Compound heterozygotes were found in 10 patients, all corresponded to classic forms of the disease. CONCLUSIONS: The causal CYP21A2 gene mutation was detected in 56% (72% in classic CAH), which makes the method encouraging. The most frequent mutations observed were Intron 2 and G318X. The detection of mutations offers confirmation of diagnosis, prediction of phenotype and genetic counseling.
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Hiperplasia Suprarrenal Congênita/diagnóstico , Biomarcadores/análise , Mutação , Fenótipo , Esteroide 21-Hidroxilase/genética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/etiologia , Hiperplasia Suprarrenal Congênita/metabolismo , Estudos Transversais , Feminino , Seguimentos , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , PrognósticoRESUMO
RESUMEN Introducción: Existen discrepancias en relación con el aumento de la adiposidad abdominal de los pacientes con hiperplasia suprarrenal congénita (HSC) y la influencia sobre ella de factores clínicos, hormonales y relacionados con la dosis y el tiempo de uso del tratamiento esteroideo. Objetivo: Describir la relación entre la obesidad abdominal, la dosis, el tiempo de tratamiento esteroideo los niveles de andrógenos circulantes y el perfil lipídico en los pacientes tratados por este padecimiento. Métodos: Estudio descriptivo, transversal, que incluyó a todos los niños y adolescentes con hiperplasia suprarrenal congénita por déficit de 21 hidroxilasa que recibían tratamiento esteroideo sustitutivo, atendidos en el departamento de endocrinología pediátrica del Instituto Nacional de Endocrinología durante el periodo 2000-2015. Se estudiaron variables clínicas, bioquímicas y hormonales. Para las variables cualitativas se calcularon frecuencias absolutas y porcentajes, media y desviación estándar para las variables cuantitativas. Se evaluaron asociaciones utilizando el coeficiente de correlación de Spearman y la prueba chi cuadrado para evaluar la significación estadística de la posible asociación, considerada cuando p < 0,05. Resultados: Fueron estudiados 29 pacientes, 24 (82,8 por ciento) con sexo social femenino, una edad promedio de 10,9 ± 6,27 años, edad al diagnóstico de 1,9 años ± 2,7 años y edad de inicio del tratamiento 2,03 ± 2,7 años. Las formas clásicas predominaron con 23 pacientes (79,3 por ciento), 11 perdedoras de sal (47,8 por ciento) y 12 formas virilizantes simples, solo 6 correspondieron a las formas no clásicas (20,7 por ciento). En los tres grupos se comprobó adiposidad abdominal incrementada según el índice abdomen/talla (0,52 vs. 0,51 vs. 0,51). La utilización de mayores dosis de esteroides se correlacionó de manera positiva con mayor circunferencia de cintura (p < 0,05) y abdomen (p < 0.01). En 13 (44,8 por ciento) pacientes se comprobó obesidad abdominal y el perfil lipídico mostró valores normales en todos los casos estudiados. Conclusiones: La obesidad abdominal constituye un signo frecuente en los pacientes con HSC. Es preciso monitorear con precisión las dosis de esteroides empleadas, establecer estrategias de seguimiento más completas y estimular estilos de vida saludables, lo que redundará a largo plazo en menores consecuencias cardiometabólicas(AU)
ABSTRACT Introduction: Some disagreement exists concerning the increase in abdominal adiposity in patients with congenital adrenal hyperplasia and the influence of clinical, hormonal and dose-related factors and the time of steroid treatment use. Objective: To identify the presence of abdominal obesity and its relationship with the dose and time of steroid treatment, as well as with the levels of circulating androgens, and describe the lipid profile of these patients. Methods: Cross-sectional and descriptive study that included all the children and adolescents with 21-hydroxylase-deficient congenital adrenal hyperplasia and who received steroid replacement treatment, treated at the pediatric endocrinology department of the National Institute of Endocrinology, in the period 2000-2015. Clinical, biochemical and hormonal variables were studied. For the qualitative variables, absolute frequencies and percentages; mean and standard deviations were calculated for the quantitative variables. Associations were evaluated using the Spearman correlation coefficient. The chi-square test was used to evaluate the statistical significance of the possible association, considered when p < 0.05. Results: Twenty-nine patients were studied: 24 (82.8 percent) with female social sex, an average age of 10.9 ± 6.27 years, age of diagnosis at 1.9 ± 2.7 years, and age of treatment beginning at 2.03 ± 2.7 years. The classical forms predominated in 23 patients (79.3 percent): 11 salt losers (47.8 percent) and 12 simple virializing forms; only six corresponded to non-classical forms (20.7 percent). In the three groups, increased abdominal adiposity was found, according to abdomen/height index (0.52 vs. 0.51 vs. 0.51). The use of higher doses of steroids was correlated positively with greater circumference of waist (p < 0.05) and abdomen (p < 0.01). In 13 (44.8 percent) patients, abdominal obesity was found, while the lipid profile showed normal values in all the cases studied. Conclusions: Abdominal obesity is a frequent sign in patients with congenital adrenal hyperplasia. It is necessary to monitor accurately the doses of steroids used, establish more comprehensive follow-up strategies, and encourage healthy lifestyles, which will result in fewer long-term cardiometabolic consequences(AU)
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Humanos , Epidemiologia Descritiva , Hiperplasia Suprarrenal Congênita/etiologia , Obesidade Abdominal/epidemiologiaRESUMO
RESUMEN Introducción: Si bien en la mujer con hiperplasia adrenal congénita la consecución de una función gonadal y fertilidad normales requiere de una adhesión estricta al tratamiento sustitutivo, no siempre esto es suficiente y, desde la adolescencia, aparece algún grado de hiperandrogenismo ovárico que influye de manera negativa. Objetivos: Describir algunos aspectos relacionados con la sexualidad, la salud sexual y reproductiva en pacientes con hiperplasia adrenal congénita asignadas como femeninas. Métodos: Se realizó un estudio descriptivo transversal y observacional, que incluyó todas las pacientes con diagnóstico de hiperplasia adrenal congénita asignadas como femeninas, que fueron atendidas en el Instituto Nacional de Endocrinología durante el periodo 2000-2019. Exploró aspectos demográficos, historia familiar y aspectos relacionados con la salud sexual y reproductiva. Resultados: La muestra quedó constituida por 47 pacientes, con una media de edad actual de 14,76 ± 7,04 años y una edad promedio de inicio del tratamiento de 5,9 años. Se comprobó un predominio de las formas clínicas clásicas en 25 pacientes (53,19 por ciento), y 22 (46,80 por ciento) formas no clásicas. Presentaron algún grado de virilización genital 22 pacientes, de este grupo 14 (68,1 por ciento) habían recibido cirugía genital, 5(10,6 por ciento) clitoroplastia con una media de edad 2,8 ± 0,8 años y 9 (19,1 por ciento) combinado con vaginoplastia. De las 36 pacientes en edad reproductiva, 11 (37,9 por ciento) refirieron haber iniciado relaciones sexuales a los 17,8 ± 3,9 años, como promedio. Conclusiones: Es importante considerar que la subfertilidad de las mujeres con hiperplasia adrenal congénita tiene su origen desde los años peripuberales, por lo que debe ser de interés permanente del endocrinólogo pediatra para mejorar su futuro reproductivo(AU)
ABSTRACT Introduction: Although in women with congenital adrenal hyperplasia, the achievement of normal gonadal function and fertility requires strict adherence to substitution treatment, this is not always sufficient and some degree of ovarian hyperandrogenism appears with a negative effect, which is evident since adolescence. Objective: To characterize some factors related to sexual and reproductive health in patients with congenital adrenal hyperplasia and assigned as female. Methods: A cross-sectional and observational-descriptive study was carried out, including all female-assigned patients with a diagnosis of congenital adrenal hyperplasia and who were treated at the Institute of Endocrinology from 2000 to 2019. The study explored demographic aspects, family history, as well as aspects related to sexual and reproductive health Results: The sample was made up of 47 patients, with current mean age of 14.76 ± 7.04 years and average age for starting treatment of 5.9 years. Predominance of classic clinical forms was verified in 25 patients (53.19 percent), while 22 patients (46.80 percent) presented nonclassical forms. Some degree of genital virilization manifested in 22 patients; of this group, 13 (59.1 percent) had received genital surgery, four (8.5 percent) received clitoroplasty at mean age of 2.8 ± 0.8 years, and nine (19, 1 percent) received an approach combined with vaginoplasty. Of the 36 patients at reproductive age, 11 (37.9 percent) reported having started sexual intercourse relations at an average age of 17.8 ± 3.9 years old. Conclusions: It is important to consider that subfertility of women with congenital adrenal hyperplasia starts in the peripubertal years, a reason why it should be of permanent interest to the pediatric endocrinologist in order to improve their reproductive future(AU)
Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Adolescente , Adulto , Hiperandrogenismo/etiologia , Hiperplasia Suprarrenal Congênita/diagnóstico , Epidemiologia Descritiva , Estudos Transversais , Estudos Observacionais como AssuntoRESUMO
RESUMEN Introducción: Los adolescentes con historia familiar de diabetes mellitus tipo 2 presentan una mayor frecuencia de factores de riesgo cardiometabólico que elevan la probabilidad de desarrollar esta afección. Bajo esta hipótesis, se realizó este estudio. Objetivo: Identificar factores de riesgo cardiometabólico en adolescentes con diabetes mellitus tipo 2, como antecedente familiar. Métodos: Se realizó un estudio descriptivo transversal en adolescentes con estos antecedentes en un consultorio del policlínico Luis A. Turcios Lima. Se exploraron variables clínicas, bioquímicas, de imagen y relacionadas con estilos de vida. Resultados: Se estudiaron 40 adolescentes, el 62,5 por ciento masculino. El 90 por ciento tenía como antecedentes otras enfermedades crónicas no transmisibles en familiares de primer y segundo grados, con predominio de la hipertensión arterial. En relación a los estilos de vida, predominó el sedentarismo en el 45 por ciento. Se detectó 50 por ciento con obesidad abdominal, 25 por ciento con sobrepeso/obesidad, 15 por ciento con acantosis nigricans y 10 por ciento con prehipertensión. El 10 por ciento mostró dislipidemia y el 30 por ciento hígado graso no alcohólico, que se relacionó con la presencia de acantosis (p= 0,002) y circunferencia de cintura elevada (p= 0,024). El índice cintura-talla ≥ 0,50 se asoció con la presencia de acantosis nigricans (p= 0,000), aumento de la ecogenicidad hepática (p= 0,001) e hipertrigliceridemia (p= 0,000). Conclusiones: El sedentarismo, la obesidad central y el hígado graso no alcohólico, así como, la historia familiar de hipertensión arterial se presenta con elevada frecuencia en adolescentes con antecedentes familiares de DM2(AU)
ABSTRACT Introduction: Adolescents with family history of diabetes mellitus type 2 present a higher frequency of cardiometabolic risk factors that increase the likelihood of developing this condition. Under this hypothesis, this study was conducted. Objective: To identify cardiometabolic risk factors in adolescents with diabetes mellitus type 2 as a family background. Methods: A descriptive cross-sectional study was conducted in adolescents with this background in a Family Doctor´s office belonging to ´´Luis A. Turcios Lima´´ Policlinic. Clinical, biochemical, image and related to lifestyle variables were explored. Results: 40 adolescents were studied, 62.5 percent of them were males. The 90 percent had a history of other chronic non-communicable diseases in relatives of first and second degrees, with predominance of arterial hypertension. In relation to the lifestyle, there was a predominance of physical inactivity in the 45 percent. 50 percent was detected with abdominal obesity, 25 percent with overweight/obesity, 15 percent with acanthosis nigricans and 10 percent with pre-hypertension. The 10 percent showed dyslipidemia and the 30 percent had non-alcoholic fatty liver disease, which was related to the presence of acanthosis nigricans (p= 0,002) and high waist circumference (p= 0.024). The waist/height rate ≥ 0.50 was associated with the presence of acanthosis nigricans (p= 0.000), increased echogenicity of the liver (p=0.001) and hypertriglyceridemia (p= 0.000). Conclusions: A sedentary lifestyle, central obesity and non-alcoholic fatty liver disease, as well as family background of hypertension occurs with high frequency in adolescents with family history of diabetes mellitus type 2(AU)
Assuntos
Humanos , Masculino , Feminino , Adolescente , Fatores de Risco , Diabetes Mellitus Tipo 2/etiologia , Obesidade Abdominal/epidemiologia , Comportamento Sedentário , Epidemiologia Descritiva , Estudos Transversais , Hepatopatia Gordurosa não Alcoólica/prevenção & controleRESUMO
RESUMEN Introducción: En la hiperplasia adrenal congénita el aumento de los niveles de andrógenos suprarrenales en las pacientes no tratadas o mal controladas, puede alterar el inicio y/o la progresión puberal (progresión puberal/progresiones puberales?). Objetivos: Describir las características puberales de pacientes con hiperplasia adrenal congénita asignadas como femeninas e identificar si existe asociación entre elementos relacionados con la enfermedad y el inicio y progresión puberales. Métodos: Se incluyeron todas las pacientes con diagnóstico de hiperplasia adrenal congénita asignadas como femeninas, que fueron atendidas en el INEN de enero 2000 a mayo 2019. Resultados: Fueron estudiadas 47 pacientes, con una media de edad de 14,76 ± 7,04 años. Se comprobó un predominio de las formas clínicas clásicas en 25 pacientes (53,19 por ciento), de ellas 11 (23,40 por ciento) fueron formas virilizantes simples, 14 (29,78 por ciento) perdedoras de sal y 22 (46,80 por ciento) formas no clásicas. El inicio del vello pubiano fue a una edad promedio de 7,78 ± 3,2 años. El comienzo de la telarquia resultó en una media de 10,09 ± 2,4 años y la menarquia a los 12,2 ± 2,3 años como promedio. De las 29 pacientes que ya habían menstruado 16 (55,2 por ciento) presentaban irregularidades menstruales. El tiempo entre el inicio puberal y la menarquia fue de 3,4 años en las formas no clásicas, 5,6 años en las perdedoras de sal y 7,0 años en las virilizantes simples. La edad al diagnóstico, la edad de inicio del tratamiento y la dosis de esteroides empleada se relacionaron con algunos aspectos puberales. Conclusiones: El diagnóstico oportuno y el ajuste cuidadoso del esquema esteroideo, constituyen pilares importantes en el inicio y progresión puberales, y en la consecución de ciclos ovulatorios regulares que aseguren desde la adolescencia, un inicio y desarrollo puberales normales y en edades reproductivas, la optimización de la fertilidad(AU)
ABSTRACT Introduction: In the congenital adrenal hyperplasia, the increased levels of adrenal androgens in patients untreated or poorly controlled can alter the start and/or pubertal progression (pubertal progression/pubertal progressions). Objectives: To describe the pubertal characteristics of patients with congenital adrenal hyperplasia assigned as females and to identify whether there is an association between elements related to the disease and the pubertal onset and progression. Methods: There were included all patients diagnosed with congenital adrenal hyperplasia assigned as females that were attended at the National Institute of Endocrinology from January 2000 to May 2019. Results: 47 patients were studied, with an average age of 14.76 ± 7.04 years. It was found a predominance of classic clinical forms in 25 patients (53.19 percent, of which 11 (23.40 percent) had simple virilization forms, 14 (29.78 percent) were salt-losers and 22 (46.80 percent) had non-classical forms. The onset of the pubic hair was at an average age of 7.78 ± 3.2 years. The beginning of the thelarche resulted in an average of 10.09 ± 2.4 years and menarche at the 12.2 ± 2.3 years on average. Of the 29 patients who had menstruated, 16 (55.2 percent) presented menstrual irregularities. The time between the puberty onset and menarche was 3.4 years in the non-classical forms, 5.6 years in the salt-losers, and 7.0 years in the simple virilizations. The age at initial diagnosis treatment and the dose of steroids used were related to some pubertal aspects. Conclusions: Early diagnosis and careful adjustment of the steroid scheme are important pillars in the pubertal onset and progression, the achievement of regular ovulatory cycles, and with it, in the optimization of fertility(AU)
Assuntos
Humanos , Feminino , Criança , Adolescente , Menarca/fisiologia , Puberdade , Hiperplasia Suprarrenal Congênita/diagnóstico , Distúrbios Menstruais/terapia , Epidemiologia Descritiva , Estudos TransversaisRESUMO
RESUMEN Los trastornos del desarrollo sexual son estados congénitos en los cuales el desarrollo del sexo cromosómico, gonadal o anatómico es atípico. Por tratarse de un caso sumamente raro consideramos de interés su presentación. Se presenta adolescente masculino de 15 años, con antecedentes de genitales atípicos al nacer, desarrollo de baja talla y estigmas turnerianos, pubertad espontánea y normal. Los estudios genéticos determinaron como sexo cromosómico un mosaico 45,X/46,XY/47XYY, y sexo molecular varón. Se inscribió socialmente como varón, se le realizó cirugía de reconstrucción genital y utilizó tratamiento con hormona de crecimiento biosintética que mantiene actualmente. La evolución clínica ha sido favorable con adecuada integración social. Ante la presencia de genitales atípicos al nacer se necesita de un manejo multidisciplinario. El diagnóstico etiológico de los trastornos de la diferenciación sexual requiere de una alta pericia médica. Un tratamiento integral en estos pacientes les garantiza una buena calidad de vida(AU)
ABSTRACT Sexual development´s disorders are congenital states in which the development of the chromosomal, anatomic or gonadal sex is atypical. Since this is a very rare case, we consider it as of interests for presentation. It is presented a teenager, 15-years-old male, with a history of atypical genitalia at birth, development of short height and Turner's stigmas, and spontaneous and normal puberty. The genetic studies identified as chromosomal sex a mosaic 45,X/46,XY/47XYY and male as molecular sex. He was socially registered as a male, he had a genital reconstruction surgery and he was under treatment with biosynthetic growth hormone that he currently maintains. The clinical evolution has been favourable with adequate social integration. In the presence of atypical genitalia at birth, it is needed a multidisciplinary management. The etiological diagnosis of disorders of sexual differentiation requires a high level of medical expertise. A comprehensive treatment in these patients guarantees them a good quality of life(AU)
Assuntos
Humanos , Masculino , Adolescente , Qualidade de Vida , Transtornos do Desenvolvimento Sexual/etiologia , Cirurgia de Readequação Sexual/métodos , Mosaicismo , Diferenciação Sexual , Evolução ClínicaRESUMO
Resumen Fundamento: la hiperplasia suprarrenal congénita constituye la causa más frecuente de ambigüedad sexual en la infancia y aproximadamente el 95 % de los casos son producto de mutaciones que ocurren en el gen que codifica la enzima 21α-hidroxilasa. El diagnóstico molecular constituye un elemento a considerar para el manejo y asesoramiento genético a pacientes y familiares en riesgo. Objetivo: identificar la mutación I172N, determinar su frecuencia en la población estudiada y su posible relación con los fenotipos clínicos encontrados. Métodos: se realizó un estudio descriptivo, de corte transversal, durante el período 2014-2016 a pacientes cubanos con diagnóstico de hiperplasia suprarrenal congénita por insuficiencia de 21-OH atendidos en el Instituto de Endocrinología de La Habana. El universo de estudio quedó constituido por 32 pacientes. Los resultados se presentaron en tablas o gráficos según fue más factible mostrar la información. Resultados: la mutación I172N fue identificada en individuos de ambos sexos y se estableció su relación con las formas clásicas de la enfermedad. En la población estudiada, se ubicó dentro de las tres mutaciones más frecuentes de las pesquisadas hasta el momento en el Centro Nacional de Genética Médica de la Habana a pacientes con hiperplasia suprarrenal congénita por insuficiencia de 21 OH. Conclusiones: el método estandarizado demostró ser reproducible y confiable para el diagnóstico molecular de los individuos con hiperplasia suprarrenal congénita por insuficiencia de 21-OH. La mutación I172N se ubica dentro de las tres más frecuentes en la población cubana estudiada y se relaciona con las formas clásicas de la enfermedad.
ABSTRACT Background: congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. Objective: to identify the I172N mutation, to determine its frequency in the studied population and its possible relationship with the clinical phenotypes found. Methods: a descriptive, cross-sectional study was conducted during the 2014-2016 period for Cuban patients diagnosed with congenital adrenal hyperplasia due to 21-OH insufficiency treated at the Institute of Endocrinology of Havana. The universe consisted of 32 patients. The variables analyzed were: age, social sex, age at diagnosis, clinical form of hyperplasia, diagnosis by screening program, family history, consanguinity, nonspecific neonatal death, genital crisis of the newborn, previous molecular diagnosis, mutations studied previously, mutation I172N gene CYP21A. The results were presented in tables or graphs as it was more feasible to show the information. Results: the I172N mutation was identified in individuals of both sexes and its relation with the classic forms of the disease was established. In the studied population the three most frequent mutations of the researched ones, so far in the National Center of Medical Genetics of Havana to patients with congenital adrenal hyperplasia due to 21 OH insufficiency. Conclusions: the standardized method proved to be reproducible and reliable for the molecular diagnosis of individuals with congenital adrenal hyperplasia due to 21-OH insufficiency. The I172N mutation is among the three most frequent in the studied Cuban population and is related to the classic forms of the disease.
RESUMO
Introducción: Existen discrepancias en relación con la composición corporal de los pacientes con hiperplasia adrenal congénita (HAC) y la influencia de factores clínicos, hormonales y relacionados con el tratamiento esteroideo. Objetivo: Describir variables clínicas, antropométricas y de composición corporal de pacientes con hiperplasia adrenal congénita y determinar si existe relación entre esta y las variables antes mencionadas. Método: Estudio descriptivo transversal que incluyó a todos los pacientes con hiperplasia adrenal congénita y tratamiento esteroideo sustitutivo, atendidos en endocrinología pediátrica del Instituto Nacional de Endocrinología desde el 2000-2015. Se estudiaron variables clínicas y hormonales. Para las variables cualitativas se calcularon frecuencias absolutas y porcentajes, media y desviación estándar para las variables cuantitativas. Se evaluaron asociaciones utilizando el coeficiente de correlación de Spearman y la prueba chi cuadrado para evaluar la significación estadística de la posible asociación. Resultados: Fueron estudiados 29 pacientes, de las cuales 24 (82,8 por ciento) mujeres. La edad promedio fue 10,9 ± 6,27 años, diagnóstico de 1,9 años ± 2,7 años y edad de inicio del tratamiento 2,03 ± 2,7 años. Predominó el color de la piel blanca: 19 (65,5 por ciento). En la mayoría de los pacientes predominaron altos porcentajes de masa magra y parámetros bioquímicos normales. El uso de mayores dosis de esteroides se correlacionó positivamente con mayor porcentaje de masa grasa, lo mismo sucedió desde el punto de vista clínico (no estadístico), con el mayor tiempo de tratamiento. Los niveles de testosterona plasmáticas no se relacionaron de manera significativa con las características de la composición corporal(AU)
Introduction: There is disagreement with respect to the body composition of patients with congenital adrenal hyperplasia (CAH) and the influence of clinical, hormonal and other factors involved in steroid therapy. Objective: Describe the clinical, anthropometric and body composition variables of patients with congenital adrenal hyperplasia and determine whether there is a relationship between this condition and the aforementioned variables. Method: A descriptive cross-sectional study was conducted of all congenital adrenal hyperplasia patients under replacement steroid therapy cared for at the pediatric endocrinology service of the National Institute of Endocrinology from 2000 to 2015. Clinical and hormonal variables were analyzed. Absolute frequencies and percentages were estimated for qualitative variables, whereas mean and standard deviation were used for quantitative variables. Associations were evaluated with Spearman's rank correlation coefficient, and the chi-square test was applied to evaluate the statistical significance of the possible association. Results: A total 29 patients were studied, of whom 24 (82.8 percent) were women. Mean age was 10.9 ± 6.27 years, diagnosis 1.9 ± 2.7 years and age at the start of therapy 2.03 ± 2.7 years. White skin color prevailed with 19 (65.5 percent). In most patients there was a predominance of high lean mass percentages and normal biochemical parameters. A positive correlation was found between the use of higher steroid doses and a higher lean mass percentage. The same occurred from a clinical (non-statistical) point of view with a longer therapy time. Plasma testosterone levels did not show a significant relationship to body composition characteristics(AU)
Assuntos
Humanos , Feminino , Criança , Testosterona/uso terapêutico , Composição Corporal , Interpretação Estatística de Dados , Hiperplasia/terapia , Epidemiologia Descritiva , Estudos TransversaisRESUMO
Introducción: La Diabetes Mellitus tipo 1 es una enfermedad sistémica crónica con repercusión a nivel bucal. Elevadas concentraciones de glucosa sanguínea de manera sostenida generan disminución del flujo salival, disminución de la respuesta vascular periférica lo que contribuye a la acumulación de placa bacteriana y tártaro, al desarrollo de caries, halitosis y enfermedad periodontal. Objetivo: Determinar la asociación de las alteraciones bucales y la Diabetes Mellitus tipo 1 en niños y adolescentes. Material y Métodos: Se realizó un estudio observacional de casos y controles, con un grupo de niños y adolescentes con Diabetes Mellitus tipo 1 (Grupo 1), de edades comprendidas entre 3 a 18 años y un grupo de niños y adolescentes sin Diabetes Mellitus (Grupo 2) de edades y sexo comparables. Resultados: Los pacientes con diabetes resultaron más afectados por xerostomía (37.8 por ciento), úlceras (55.6 por ciento) y periodontopatías (71.1 por ciento) que los pacientes sin diabetes, siendo estos resultados muy significativos estadísticamente, a diferencia de la afectación por caries dental y el comportamiento de la higiene bucal donde las diferencias no fueron estadísticamente significativas. Conclusiones: La Diabetes Mellitus tipo 1 se relaciona con las alteraciones bucales, así los niños y adolescentes diabéticos presentan mayor frecuencia de periodontopatías, xerostomía y úlceras que los niños y adolescentes sin diabetes, no sucede así con la caries dental ni la higiene bucal(AU)
Introduction: Type 1 Diabetes Mellitus is a chronic systemic disease with a repercussion upon a buccal level. High concentrations of maintained blood glucose generate a decrease of both the salivary flow and the peripheral vascular response, which contributes to the accumulation of bacterial plaque and tartar, the growth of cavities, halitosis, and periodontal diseases. Objective: To determine the association between buccal alterations and Type 1 Diabetes Mellitus in children and adolescents. Material and Methods: A case-control observational study was done in a group of children and adolescents with Type 1 Diabetes Mellitus (Group 1), from ages 3 to 18, and in a group of children and adolescents without Diabetes Mellitus (Group 2), of compared ages and sexes. Results: The patients with diabetes were more affected by xerostomia (37.8 percent), ulcers (55.6 percent), and periodontopathies (71.1 percent) than the patients without diabetes, being these results very significant statistically, unlike the affectation by dental cavities and the behavior of buccal hygiene where the differences were not statistically significant. Conclusions: Type 1 Diabetes Mellitus is related to buccal alterations; this way, diabetic children and adolescents present more frequent periodontopathies, xerostomies and ulcers than children and adolescents without diabetes, but it does not happen with dental cavities or buccal hygiene(AU)
Assuntos
Humanos , Criança , Adolescente , Diabetes Mellitus Tipo 1/complicações , Doenças da Boca/complicações , Estudos de Casos e Controles , Estudo ObservacionalRESUMO
La enfermedad de Graves es rara en los niños y adolescentes, y aunque cursa con una clínica bastante florida, no siempre se piensa en este diagnóstico, y en no pocas ocasiones llegan a la consulta de Endocrinología remitidos de servicios de Psicología y/o Psiquiatría por un predominio de alteraciones conductuales (hiperquinesia, irritabilidad). La afección ocular puede aparecer en relación o no con los estados de hipertiroidismo, y se presenta en muchos casos con el paciente eutiroideo, por lo que se nombra actualmente orbitopatía asociada al tiroides. Es una enfermedad autoinmune y autolimitada que afecta el tejido conectivo, y su evolución es menos grave que en el adulto. El tratamiento de esta entidad es muy particularizado en las edades pediátricas, debido a que las modalidades terapéuticas por sí mismas no cumplen todos los criterios de efectividad y seguridad. Teniendo en cuenta el grado y la severidad de la orbitopatía se establecen los protocolos de atención. Es válido señalar que en estas edades -por lo general- se presentan formas leves o moderadas. Existen tres líneas de tratamiento: el medicamentoso, con antitiroideos de síntesis; el iodo radiactivo solo, o combinado con terapia esteroidea; o la extirpación quirúrgica de la glándula tiroides. En niños es muy raro que se llegue a la cirugía orbitaria. Con el objetivo de reagrupar información actualizada sobre este tema se presenta esta revisión(AU)
Graves´ disease is rare in children and adolescents, and although it develops with a fairly abundant clinic, this diagnosis is not always taken into account and in many occasions, the patients are referred to the endocrinology service from the psychology and /or psychiatry service because of predominant behavioral alterations (hyperkinesia, irritability). This eye disease may appear, either associated or not, to the conditions of hyperthyroidism, and it occurs many times in the euthyroid patient, so it is presently called thyroid-associated orbinopathy. It is an autoimmune, autolimited disease affecting the connective tissue and its progression is less severe than in the adult. The treatment is very particularized at pediatric ages because the therapeutic modalities as such do not meet all the required effectiveness and safety criteria. Taking into account the degree and the severity of orbinopathy, the respective care protocols are set. Generally speaking, it is worthwhile to point out that at these ages; there are moderate or slight forms of disease. There are also three lines of treatment: medication with synthesis anti-thyroid; the radioiodine therapy alone or in combination with steroidal therapy; and the surgical excision of the thyroid gland. It is very uncommon that a child undergoes orbital surgery. The objective of this review was to reorganize updated information about this topic(AU)
Assuntos
Humanos , Glândula Tireoide/lesões , Doença de Graves/diagnóstico , ExoftalmiaRESUMO
Introducción: las Convivencias para niños y adolescentes con diabetes mellitus tipo 1 surgen en Cuba en el año 1993, como una alternativa para la educación diabetológica; desde entonces, se realizan en la mayoría de las provincias del país. Objetivo: estandarizar la organización y realización de las Convivencias para niños y adolescentes con diabetes mellitus tipo 1. Desarrollo: durante una semana se adiestran a los pacientes y sus familiares (por separado) en el manejo integral de la diabetes mellitus tipo 1. Las Convivencias combinan las actividades educativas con la evaluación clínica del paciente, por lo que incluye además el monitoreo glucémico diario, el ajuste del tratamiento, la realización de complementarios, así como la evaluación por diferentes especialidades. La estandarización ofrece los detalles del proceso, los horarios y lugares recomendados para cada actividad, las técnicas educativas según los grupos de edades, y las técnicas para la evaluación de la actividad. Conclusión: las Convivencias constituyen un proceder a la vez educativo, terapéutico y recreativo, que permite conocer no solo el estado de salud de los pacientes en general, sino también, la situación familiar existente alrededor del niño o adolescente que vive con diabetes. La acción holística de la convivencia resulta indispensable a fin de perfeccionar el tratamiento de la diabetes; así como, optimizar la calidad de vida de los pacientes que la padecen(AU)
Introduction: the residential weeks for children and adolescents with type 1 diabetes mellitus emerge in Cuba in 1993 as an alternative for education on diabetes; since then, they are held in most provinces. Objective: to standardize the organization and holding of the residential weeks for children and adolescents with type 1 diabetes mellitus. Development: during a week, the patients and their relatives (separately) are trained in the comprehensive management of type 1 diabetes mellitus. Residential weeks combine the educational activities with the clinical evaluation of the patient, so they include daily glycemic monitoring, adjustment of treatment, the performance of supplementary tests as well as their evaluation by different specialties. Standardization offers the details of the process, the recommended schedules and places for each activity, the educational techniques by age groups and the evaluation techniques of the activity. Conclusions: the residential week represents an educational, therapeutic and recreational procedure that allows knowing not only the health status of the patient but also the existing family situation of the child and the adolescent living with diabetes. The holistic action of the residential week is indispensable to improve the diabetes treatment as well as to optimize the quality of life of patients suffering it(AU)