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1.
Rev. cuba. endocrinol ; 32(2): e282, 2021. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1347399

ABSTRACT

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)


Subject(s)
Humans , Male , Female , Child , Primary Health Care , Adrenal Hyperplasia, Congenital/psychology , Sex Reassignment Surgery/methods , Epidemiology, Descriptive , Cross-Sectional Studies , Psychological Techniques
2.
Arch. endocrinol. metab. (Online) ; 63(2): 113-120, Mar.-Apr. 2019. tab, graf
Article in English | LILACS | ID: biblio-1001211

ABSTRACT

ABSTRACT Objective There is controversy regarding cognitive function in patients with congenital adrenal hyperplasia (CAH). This study is aimed at the assessment of cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone levels. Subjects and methods Thirty children with CAH due to 21 hydroxylase deficiency were compared with twenty age- and sex-matched healthy controls. HC daily and cumulative doses were calculated, the socioeconomic standard was assessed, and free testosterone was measured. Cognitive function assessment was performed using the Wechsler Intelligence Scale - Revised for Children and Adults (WISC), the Benton Visual Retention Test, and the Wisconsin Card Sorting Test (WCST). Results The mean age (SD) of patients was 10.22 (3.17) years [11 males (36.7%), 19 females (63.3%)]. Mean (SD) HC dose was 15.78 (4.36) mg/m 2 /day. Mean (SD) cumulative HC dose 44,689. 9 (26,892.02) mg. Patients had significantly lower scores in all domains of the WISC test, performed significantly worse in some components of the Benton Visual Retention Test, as well as in the Wisconsin Card Sorting Test. There was no significant difference in cognitive performance when patients were subdivided according to daily HC dose (< 10, 10 - 15, > 15 mg/m 2 /day). A positive correlation existed between cumulative HC dose and worse results of the Benton test. No correlation existed between free testosterone and any of the three tests. Conclusion Patients with CAH are at risk of some cognitive impairment. Hydrocortisone therapy may be implicated. This study highlights the need to assess cognitive functions in CAH.


Subject(s)
Humans , Male , Female , Child , Adolescent , Hydrocortisone/administration & dosage , Cognition/drug effects , Adrenal Hyperplasia, Congenital/psychology , Anti-Inflammatory Agents/administration & dosage , Socioeconomic Factors , Testosterone/blood , Visual Perception/drug effects , Wechsler Scales , Hydrocortisone/pharmacology , Case-Control Studies , Cognition Disorders/diagnosis , Adrenal Hyperplasia, Congenital/metabolism , Adrenal Hyperplasia, Congenital/blood , Dose-Response Relationship, Drug , Intellectual Disability/diagnosis , Anti-Inflammatory Agents/pharmacology , Neuropsychological Tests
3.
Arq. bras. endocrinol. metab ; 58(2): 124-131, 03/2014. graf
Article in Portuguese | LILACS | ID: lil-709338

ABSTRACT

Graças ao significativo avanço na conduta e no tratamento de pacientes com as diversas formas de hiperplasia adrenal congênita por deficiência de 21-hidroxilase (D21OH) durante a infância e a adolescência, essas mulheres puderam atingir a idade adulta. Dessa maneira, o manejo nessa fase tornou-se ainda mais complexo, originando novos desafios. Tanto a exposição continuada à corticoterapia (pelo uso de doses muitas vezes suprafisiológicas), quanto ao hiperandrogenismo (pelo tratamento irregular ou uso de doses insuficientes), pode causar resultados pouco favoráveis à saúde e à qualidade de vida dessas mulheres, como: osteoporose, complicações metabólicas com risco cardiovascular, prejuízos cosméticos, infertilidade e alterações psicossociais e psicossexuais. No entanto, há poucos estudos de seguimento de longo prazo nas pacientes adultas. Nessa revisão procuramos abordar alguns aspectos importantes e mesmo controversos no seguimento de mulheres adultas com D21OH, recomendando a adoção de terapia individualizada e de caráter multidisciplinar, enquanto novos estudos não proponham atitudes mais bem definidas e consensuais visando à melhora da qualidade de vida dessas mulheres.


Due to major improvements in the management and therapy of patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (21OHD) along childhood and adolescence, affected women are able to reach adulthood. Therefore, management throughout adult life became even more complex, leading to new challenges. Both the protracted use of corticosteroids (sometimes in supraphysiologic doses), and excess androgen (due to irregular treatment and/or inadequate dosage) may impair the quality of life and health outcomes in affected adult women, causing osteoporosis, metabolic disturbances with high cardiovascular risk, cosmetic damage, infertility, and psychosocial and psychosexual changes. However, long-term follow-up studies with 21OHD adult women are still required. In this review, we discuss some important and controversial aspects of the follow-up of adult women with 21OHD, and recommend the use of a customized multi-disciplinary therapeutic approach while further studies with these patients do not provide distinct understanding and well-defined attitudes towards better quality of life.


Subject(s)
Adult , Female , Humans , Adrenal Hyperplasia, Congenital/drug therapy , Algorithms , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/epidemiology , Adrenal Hyperplasia, Congenital/etiology , Adrenal Hyperplasia, Congenital/psychology , Fertility/drug effects , Guidelines as Topic , Glucocorticoids/adverse effects , Glucocorticoids/therapeutic use , Incidence , Quality of Life/psychology
4.
Arq. bras. endocrinol. metab ; 53(9): 1112-1124, dez. 2009. tab
Article in Portuguese | LILACS | ID: lil-537063

ABSTRACT

OBJETIVO: Compreender significados e pensamentos de um grupo de pais, pacientes e médicos sobre a hiperplasia adrenal congênita (HAC) e analisar angústias, dúvidas e ansiedades. MÉTODOS: Foram selecionados 21 sujeitos: 7 especialistas de cinco instituições do Sistema Único de Saúde (SUS), 9 familiares e 6 pacientes com HAC, seguindo padrões da pesquisa qualitativa. Neste artigo, apresentaram-se três categorias: "doença e tratamento", "dúvidas e angústias" e "relacionamentos." RESULTADOS: As principais angústias dos pais relacionam-se à indefinição sexual ao nascimento. Para pacientes, a angústia maior relaciona-se ao sentimento de solidão ao lidar com a doença e seu tratamento, enquanto médicos mostram-se inconformados com a passividade dos pais/pacientes. CONCLUSÕES: A passividade de pacientes/familiares nas consultas deve ser avaliada com cautela, pois a dinâmica do ambulatório dos hospitais-escola tem efeito neste comportamento: os médicos não conversam abertamente com os pais, enquanto estes não conversam com seus filhos, que, por sua vez, poupam os pais de mais sofrimento. Constatou-se dificuldade de comunicação entre esses vários sujeitos. Essas observações permitem sugerir que uma medida especial de atenção a esses pacientes deva ser construída.


OBJECTIVE: To understand the meanings/thoughts of a group of parents, patients and physicians regarding congenital adrenal hyperplasia (CAH), and to evaluate their anguishes, doubts and anxieties. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from five Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to the qualitative research model. Three of the studied categories are presented: "disease and treatment", "doubts and anguishes" and "relationships." RESULTS: Parents' main anguishes relate to the situation of an unnamed sex at birth. A sense of loneliness when dealing with the disease is the major anguish among patients, whereas physicians show hopelessness with the passivity parents and patients. CONCLUSIONS: The apparent submissiveness of patients/parents during consultations must be evaluated cautiously. University Hospitals outpatient clinic dynamics have a direct effect on this behavior: physicians do not talk openly with parents who in turn do not talk with their children, whereas patients chose to protect their parents from additional suffering. Thus, some miscommunication is noticeable among these subjects. These observations suggest that a special mindful measure should be built for these patients.


Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , Adrenal Hyperplasia, Congenital/psychology , Health Knowledge, Attitudes, Practice , Interpersonal Relations , Parents/psychology , Anxiety/psychology , Communication , Endocrinology , Parent-Child Relations , Physician-Patient Relations , Qualitative Research , Sex Characteristics , Stress, Psychological/psychology , Young Adult
5.
Arq. bras. endocrinol. metab ; 53(9): 1125-1136, dez. 2009. tab
Article in Portuguese | LILACS | ID: lil-537064

ABSTRACT

OBJETIVO: Identificar questões relacionadas à definição e redesignação sexual e à cirurgia corretiva em pacientes com hiperplasia adrenal congênita (HAC) e compreender a inserção do psicólogo no seu atendimento. MÉTODOS: Selecionaram-se 21 sujeitos: 7 especialistas de cinco instituições do Sistema Único de Saúde (SUS), 9 familiares e 6 pacientes com HAC, seguindo-se padrões da pesquisa qualitativa. Neste artigo, analisaram-se três das categorias estudadas: "definição e redesignação sexual", "cirurgia e dilatação" e "psicologia". RESULTADOS: A situação de indefinição sexual é a que mais angustia os pais, enquanto a redesignação inquieta mais os médicos. A sensação de isolamento para lidar com a doença e tratamento foi comum nas pacientes; os procedimentos de dilatação foram sua principal queixa. Os médicos acham que a cirurgia deve ser feita com brevidade para evitar traumas posteriores. CONCLUSÕES: Diante de questões psicológicas complexas, chama a atenção o fato de que nem todo serviço de atendimento especializado conta com a presença de um psicólogo. Os exames de dilatação causam traumas nas pacientes. No grupo estudado, constataram-se dificuldades para lidar com as questões relacionadas à sexualidade.


OBJECTIVE: To identify relevant questions related to sex definition and re-designation and reconstructive surgery in patients with congenital adrenal hyperplasia (CAH), and to understand the role of the psychologist in providing care for these patients. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from 5 Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to a qualitative research model. In this paper, 3 of the studied categories are analyzed: "sex definition and re-designation", "reconstructive surgery/vaginal dilation", and "psychology". RESULTS: Parents' main anguish relates to the situation of an unnamed sex at birth, whereas sex re-designation was distressful to physicians. A sense of loneliness when dealing with the disease and treatment was a common anguish among patients; dilation procedures were the major complaint. In general, physicians recommend that genital reconstructive surgery be performed early on to avoid future trauma. CONCLUSIONS: In such a complex scenario, it is remarkable that not all the reference service staff have a psychologist on duty. Difficulties to deal with questions involving sexuality were evident and dilation procedures are an additional source of trauma for these patients.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Young Adult , Adrenal Hyperplasia, Congenital/psychology , Gender Identity , Reconstructive Surgical Procedures/psychology , Social Support , Adrenal Hyperplasia, Congenital/surgery , Endocrinology , Psychotherapy , Parents/psychology , Qualitative Research , Sex Characteristics , Young Adult
6.
Rev. cuba. endocrinol ; 19(3)sept.-dic. 2008. tab
Article in Spanish | LILACS, CUMED | ID: lil-531492

ABSTRACT

La hiperplasia adrenal congénita engloba un conjunto de enfermedades genéticas de transmisión autosómica recesiva caracterizadas por un trastorno de la esteroidogénesis suprarrenal. Constituye un caso típico de daño cerebral por el efecto patológico de las hormonas sexuales en el sistema nervioso en desarrollo, y a esto se le suman las secuelas secundarias al cuadro grave de crisis adrenal que aparece en la forma clásica a los pocos días de vida. Estudio de caso en un niño de 6 años de edad con antecedentes de hiperplasia adrenal congénita perdedora de sal. Se determinaron los puntos débiles y fuertes en el desarrollo a través de la batería neuropsicológica Luria Inicial. Como complementario a la evaluación se aplicó la Escala de Inteligencia de Weschler y el Cuestionario de Comportamiento Infantil para padres y profesores. El niño presenta un perfil neuropsicológico caracterizado por bajas puntuaciones en: motricidad manual, habilidades viso-espaciales, impulsividad, pobre vocabulario, dificultades en operaciones de cálculos sencillos, en el reconocimiento de objetos por el tacto sin la ayuda visual y en la rapidez de procesamiento. La capacidad de inteligencia está en límites normales con un rendimiento más bajo en la escala no verbal. En la escala de comportamiento se identificaron las dificultades en la atención y en el aprendizaje. El perfil neuropsicológico se caracteriza por tener bajas ejecuciones en tareas verbales, no verbales y en la velocidad de procesamiento. El tratamiento hormonal en los primeros días de nacido permite que el desarrollo siga un curso normal, pero todo proceso tiene un costo que se refleja en la adquisición de habilidades psicológicas superiores(AU)


Congenital adrenal hyperplasia includes a series of genetic diseases of autosomal recessive transmission characterized by a disorder of suprarenal esteroidogenesis. This is a typical case of brain damage by pathologic effect of sexual hormones in developing nervous system, and also, are the secondary sequelae to severe situation of adrenal crises appearing in a classic way in the first days of life. A study-case of a child aged 6 presenting with backgrounds of congenital adrenal hyperplasia and salt-losing syndrome. We determine weak and strong points in develop by means of the Luria Inicial neuropsychological battery. As a complement to valuation we applied the Weschler Intelligence Scale and the Infantile Behavior Questionnaire for parents and professors. Child presenting with a neuropsychological profile characterized by low scores in: manual motility, visual-spatial, impulsiveness, a poor language, difficulty in operations of simple calculations, in recognition of objects by touch with visual help, and in processing speed. Ability of intelligence is within normal limits with the lower performance in non-verbal scale. In behavior scale, it was possible to identify difficulties to attention and learning. Neuropsychological profile is characterized by a low level of executions in verbal tasks, non-verbal, and in processing speed. Hormonal treatment during first days of life allows that development follows its normal course, but all process has a cost reflected in acquisition of higher psychological abilities(AU)


Subject(s)
Humans , Male , Child , Adrenal Hyperplasia, Congenital/psychology , Learning , Neuropsychological Tests
7.
Arq. bras. endocrinol. metab ; 45(1): 64-72, fev. 2001. ilus, tab
Article in Portuguese | LILACS | ID: lil-282810

ABSTRACT

O tratmento da hiperplasia supra-renal congênita por deficiência da 21-hidroxilase (HSRC-21 OH) tem como objetivos repor glico e mineralocorticóides, ecitar a virilizaçäo dos genitais externos, prevenir a desidratacao por perda de sal, controlar o hiperandrogenismo sem afetar a velocidade d crescimento, preservar a funçäo gonadal, fertilidade e estatura final. Relatamos a nossa experiência no acompanhamento de 96 pacientes com HSRC-21OH. nas crianças utilizamos como glicocorticóide o acetato de cortisona (18-20 mg/m2/dia) e nos adultos a dexametasona (0,25-0,75 mg/dia). quando necessário, a reposiçäo do mineralocorticóide foi feita com 9 alfa-fluor-hidrocortisona50-250µg/dia dependendo da faiza etária. Apesar da substiruiçäo adequadacom glico e/ou minerolocorticides o resultado final do tratamento da HSRC-21OH ainda deixa a desejar, principalmente em relaçäo ao crescimento, já que a estatura final na maior parte das caduísticas está entre -1 e -2 DP em relaçäo a estatura alvo. Novas terapêuticas da HSRC-21OH, como a associaçäo de hidrocortisona, fludocortisona , flutamida e tstolactona ou a supra rrenalectomia cirúrgica, ainda estäo em fase experimental e a evoluçäo a longo prazo é necessária para avaliar seu real efeito.


Subject(s)
Humans , Adrenal Hyperplasia, Congenital/therapy , /deficiency , Adrenal Hyperplasia, Congenital/psychology , Body Height/physiology , Gonads/physiology
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