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1.
Rev. cuba. pediatr ; 952023. ilus, tab
Article in Spanish | LILACS, CUMED | ID: biblio-1515294

ABSTRACT

Introducción: La insuficiencia adrenal hipotálamo hipofisaria usualmente se manifiesta secundaria a tumores y, cuando resulta congénita se asocia, con frecuencia, con otras deficiencias hormonales. La crisis adrenal suele presentarse en su debut y puede resultar potencialmente mortal. Objetivo: Examinar el caso de una paciente con insuficiencia adrenal central que debutó con una crisis adrenal congénita. Presentación del caso: Recién nacida a término, padres no consanguíneos, hospitalizada a los 9 días de vida por clínica de una semana con múltiples episodios eméticos y apnea. Ingresó con deshidratación severa, hipotensa y estuporosa. Además, se encontró acidosis metabólica severa, hipoglucemia persistente, hiponatremia e insuficiencia prerrenal. Ante la no mejoría de su estado hemodinámico, a pesar del uso de cristaloides y vasopresores, finalmente mejoró con la administración de dosis altas de hidrocortisona. El diagnóstico de deficiencia de cortisol de origen central se realizó con un test dinámico de insulina y la resonancia magnética nuclear hipofisaria. Conclusiones: La crisis adrenal se debe tener presente como diagnóstico diferencial en episodios agudos con inestabilidad hemodinámica persistente e hipoglucemia de difícil manejo. Adicionalmente, hay que considerar que existen otras causas menos comunes de insuficiencia adrenal en neonatos como la hipoplasia hipofisaria(AU)


Introduction: Hypothalamic-pituitary adrenal insufficiency usually manifests secondary to tumors and, when congenital, is often associated with other hormonal deficiencies. Adrenal crisis usually occurs at its onset and can be life threatening. Objective: To review the case of a patient with central adrenal insufficiency who had an onset with a congenital adrenal crisis. Case presentation: Term newborn, non-consanguineous parents, hospitalized at 9 days of life for a week-long clinical presentation with multiple emetic episodes and apnea. She was admitted with severe dehydration, hypotensive and stuporous. In addition, severe metabolic acidosis, persistent hypoglycemia, hyponatremia and prerenal failure were found. Given the lack of improvement of her hemodynamic status, despite the use of crystalloids and vasopressors, she finally improved with the administration of high doses of hydrocortisone. The diagnosis of cortisol deficiency of central origin was made with a dynamic insulin test and pituitary nuclear magnetic resonance imaging. Conclusions: Adrenal crisis should be kept in mind as a differential diagnosis in acute episodes with persistent hemodynamic instability and difficult-to-manage hypoglycemia. Additionally, other less common causes of adrenal insufficiency in neonates, such as pituitary hypoplasia, should be considered(AU)


Subject(s)
Humans , Female , Infant, Newborn , Ceftriaxone/therapeutic use , Hydrocortisone/therapeutic use , Adrenal Insufficiency/etiology , Milrinone/therapeutic use , Dobutamine/therapeutic use , Vasoconstrictor Agents/therapeutic use , Intensive Care Units, Pediatric
2.
Journal of the ASEAN Federation of Endocrine Societies ; : 90-99, 2023.
Article in English | WPRIM | ID: wpr-984395

ABSTRACT

Objectives@#Among critically ill patients, there is usually impairment of the hypothalamic-pituitary- adrenal axis, leading to a condition known as critical illness-related corticosteroid insufficiency (CIRCI). The aims of this investigation are to determine the incidence of and characterize CIRCI among patients with COVID-19 as well as to analyze the outcomes of these critically ill patients.@*Methodology@#This is a single-center, retrospective, cohort study that investigated the occurrence of CIRCI among critically ill patients infected with COVID-19.@*Results@#In this cohort, there were 145 COVID-19 positive patients with refractory shock included, which reflects that 22.94% of the COVID-19 admissions have probable CIRCI. Patients who were given corticosteroids were found to have statistically significant longer median days on ventilator (p= 0.001). However, those on the corticosteroid arm were at higher risk of morbidity and mortality and a greater proportion of patients with organ dysfunction. Multivariable logistic regression analysis revealed that SOFA score was a significant predictor of mortality in CIRCI (p=0.013).@*Conclusion@#CIRCI has a unique presentation among COVID-19 patients because of the presence of a high level of inflammation in this life-threatening infection. It possibly is a harbinger of markedly increased risk of mortality in these patients.


Subject(s)
Adrenal Insufficiency , COVID-19 , Critical Illness , Shock
4.
Cambios rev. méd ; 21(1): 766, 30 Junio 2022. tabs, grafs.
Article in Spanish | LILACS | ID: biblio-1400392

ABSTRACT

INTRODUCCIÓN. La crisis suprarrenal se refiere a la insuficiencia suprarrenal aguda; la cual es un trastorno en el que la corteza adrenal no produce suficientes hormonas esteroides (en especial cortisol) para satisfacer las demandas del cuerpo, de acuerdo al mecanismo fisiopatológico se la puede clasificar como primaria, secundaria y terciaria, siendo más común en pacientes con insuficiencia suprarrenal primaria. Es una emergencia potencialmente mortal que requiere tratamiento inmediato. OBJETIVO. Establecer una estrategia de prevención y tratamiento de la crisis suprarrenal, así como la farmacoterapia ideal y sus alternativas válidas. MATERIAL Y MÉTODOS. Se realizó una revisión bibliográfica en varias revistas virtuales de alto carácter científico como Cochrane Library, Cochrane Systematic Reviews Database, MEDLINE a través de PubMed y ClinicalTrial.gov. Se seleccionaron revisiones sistemáticas con o sin metaanálisis, ensayos clínicos y recomendaciones de expertos relacionados con prevención y tratamiento de crisis suprarrenal en general. RESULTADOS. Se obtuvieron 1819 resultados, de los cuales se seleccionaron 20 artículos con mayor validez y replicabilidad en el medio para establecer un protocolo unificado de actuación. CONCLUSIÓN. El objetivo de la terapia es el tratamiento de la hipotensión y reversión de las anomalías electrolíticas y de la deficiencia de cortisol. Se deben infundir por vía intravenosa grandes volúmenes (1 a 3 litros) de solución salina al 0,9% o dextrosa al 5% en solución salina al 0,9% y la administración de hidrocortisona (bolo de 100 mg), seguido de 50 mg cada 6 horas (o 200 mg / 24 horas como infusión continua durante las primeras 24 horas). Si no se dispone de hidrocortisona, las alternativas incluyen prednisolona, prednisona y dexametasona.


INTRODUCTION. Adrenal crisis refers to acute adrenal insufficiency; which is a disorder in which the adrenal cortex does not produce enough steroid hormones (especially cortisol) to meet the body's demands, according to the pathophysiological mechanism it can be classified as primary, secondary and tertiary, being more common in patients with primary adrenal insufficiency. It is a life-threatening emergency that requires immediate treatment. OBJECTIVE. To establish a strategy for the prevention and treatment of adrenal crisis, as well as the ideal pharmacotherapy and its valid alternatives. MATERIAL AND METHODS. A literature review was performed in several highly scientific virtual journals such as Cochrane Library, Cochrane Systematic Reviews Database, MEDLINE through PubMed and ClinicalTrial.gov. Systematic reviews with or without meta-analysis, clinical trials and expert recommendations related to prevention and treatment of adrenal crisis in general were selected. RESULTS. A total of 1819 results were obtained, from which 20 articles with greater validity and replicability in the setting were selected to establish a unified protocol for action. CONCLUSIONS. The aim of therapy is the treatment of hypotension and reversal of electrolyte abnormalities and cortisol deficiency. Large volumes (1 to 3 liters) of 0.9% saline or 5% dextrose in 0.9% saline and administration of hydrocortisone (100 mg bolus), followed by 50 mg every 6 hours (or 200 mg / 24 hours as a continuous infusion for the first 24 hours) should be infused intravenously. If hydrocortisone is not available, alternatives include prednisolone, prednisone, and dexamethasone.


Subject(s)
Humans , Male , Female , Water-Electrolyte Imbalance , Hydrocortisone/therapeutic use , Adrenal Cortex Hormones , Adrenal Insufficiency/drug therapy , Fluid Therapy , Hypotension , Phenylethanolamine N-Methyltransferase , Dexamethasone , Prednisolone , Tumor Necrosis Factor-alpha , Adrenocorticotropic Hormone , Ecuador , Hypothalamo-Hypophyseal System
5.
repert. med. cir ; 31(1): 33-41, 2022. ilus., tab.
Article in English, Spanish | LILACS, COLNAL | ID: biblio-1366960

ABSTRACT

Introducción: la insuficiencia suprarrenal primaria (IA) descrita por Thomas Addison en 1855 atribuía como principal causa a la infección por tuberculosis (TBC) diseminada, pero con el paso del tiempo ha disminuido en los países desarrollados. En aquellos en vías de desarrollo se mantiene alta esta etiología infecciosa, en especial en pacientes con VIH. Objetivo: realizar una revisión narrativa de la literatura reciente sobre la adrenalitis por TBC, incluyendo el enfoque, manejo y seguimiento en los casos de insuficiencia suprarrenal primaria (IA). Materiales y métodos: búsqueda y análisis de los artículos disponibles en los últimos 5 años bajo los descriptores en ciencias de la salud (DeCS) enfermedad de Addison, tuberculosis, insuficiencia suprarrenal primaria y adrenalitis en español en las bases de Google scholar y LILACS, y en inglés en PubMed y ClinicalKey. Conclusiones: la insuficiencia adrenal o adrenalitis por TBC ha descendido como causa de IA primaria, pero en el contexto de reemergencia de infección por VIH, continúa siendo una causa importante de IA en países en desarrollo. En estos casos además de la suplencia con corticosteroides el tratamiento de la causa específica es de importancia para impactar en la respuesta clínica, la supervivencia y la calidad de vida.


Introduction: primary adrenal insufficiency (AI) was described by Thomas Addison in 1855, and the vast majority of cases were attributable to disseminated tuberculosis (TB), but TB has decreased in developed countries over time. Conversely, in developing countries, this infectious etiology remains high, especially in patients with HIV infection. Objective: to perform a narrative review of the recent literature on tuberculous adrenalitis, including the approach, management and follow-up in cases of primary adrenal insufficiency (AI). Materials and methods: search and analysis of articles available over the past 5 years, using Health Sciences Descriptors (DeCS), Addison ́s disease, tuberculosis, primary adrenal insufficiency and adrenalitis, in Spanish in the Google scholar and LILACS databases, and in English in the PubMed and ClinicalKey databases. Conclusions: adrenal insufficiency or adrenalitis due to TB has decreased as a cause of primary AI, but in the context of the resurgence of HIV infection, TB remains an important cause of AI in developing countries. In these cases, in addition to corticosteroid replacement therapy, treatment of the specific cause is important to impact clinical response, survival and quality of life.


Subject(s)
Tuberculosis , Addison Disease , Quality of Life , Adrenal Insufficiency
6.
Medicina (B.Aires) ; 81(5): 846-849, oct. 2021. graf
Article in Spanish | LILACS | ID: biblio-1351059

ABSTRACT

Resumen La crisis adrenal es la forma más extrema de presentación de la insuficiencia adrenal y representa una urgencia endocrinológica que llega a poner en riesgo la vida. Esta situación puede ser des encadenada por diferentes causas, entre las cuales se incluye el uso de fármacos inductores del CYP3A4, que aceleran la depuración de la hidrocortisona. Describimos el caso de una mujer de 85 años, con antecedentes de insuficiencia adrenal secundaria y enfermedad renal crónica, que presentó síntomas compatibles con crisis adrenal (astenia, adinamia, hiponatremia grave con síntomas neurológicos e hipotensión arterial) luego de nueve días del inicio de tratamiento con modafinilo. El cuadro clínico mejoró rápidamente con la suspensión del modafinilo y la administración de hidrocortisona endovenosa. Luego de descartar las posibles causas desencadenantes (infecciosas, isquémicas, tromboembolismo pulmonar y omisión en la toma de hidrocortisona), se interpretó que el modafinilo precipitó los síntomas de insuficiencia adrenal al aumentar la depuración del corticoide. El modafinilo tiene la capacidad de inducir la actividad del CYP3A4 y, en consecuencia, disminuir la biodisponibilidad de la hidrocortisona. Recalcamos la necesidad de ajustar la dosis de reemplazo de corticoides en sujetos que reciben fármacos inductores del metabolismo.


Abstract Adrenal crisis is the most extreme presentation form of adrenal insufficiency and represents a life-threatening endocrinological emergency. This situation can be triggered by different causes including the use of CYP3A4-inducing drugs, which accelerate hydrocortisone clearance. We describe the case of an 85-year-old woman with secondary adrenal insufficiency and chronic renal disease, who presented symptoms compatible with adrenal crisis (asthenia, adynamia, severe hyponatremia associated with neurological symptoms and hypotension) nine days after the start of modafinil treat ment. The clinical picture improved rapidly with the suspension of modafinil and the administration of intravenous hydrocortisone. After ruling out the possible triggering causes (infectious, ischemic, pulmonary thromboembo lism and failure to take hydrocortisone), it was interpreted that modafinil precipitated the symptoms of adrenal insufficiency by increasing the steroid clearance. Modafinil has the ability to induce the activity of CYP3A4 and consequently decrease the bioavailability of hydrocortisone. We emphasize the need to adjust steroid dose re placement in subjects receiving metabolism-inducing drugs.


Subject(s)
Humans , Female , Aged, 80 and over , Adrenal Insufficiency/chemically induced , Hydrocortisone/adverse effects , Acute Disease , Modafinil/adverse effects , Glucocorticoids/adverse effects
7.
Arch. endocrinol. metab. (Online) ; 65(4): 488-494, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1339103

ABSTRACT

ABSTRACT Primary adrenal insufficiency (PAI) is characterized by the inability of the adrenal cortex to produce sufficient amounts of glucocorticoids and/or mineralocorticoids. Addison's disease (AD) and congenital adrenal hyperplasia (CAH) are the most frequent disorders in adults and children, respectively. Despite the diagnostic advances and the availability of glucocorticoid and mineralocorticoid replacements, adrenal crisis (AC) is still a potentially lethal condition contributing to the increased mortality, not only during the first year of life, but also throughout life. Failure in increasing glucocorticoid doses during acute stress, when greater amounts of glucocorticoids are required, can lead to AC and an increase morbimortality rate of PAI. Considering a mortality rate of 0.5 per 100 patient years, up to 1,500 deaths from AC are expected in Brazil in the coming decade, which represents an alarming situation. The major clinical features are hypotension and volume depletion. Nonspecific symptoms such as fatigue, lack of energy, anorexia, nausea, vomiting, and abdominal pain are common. The main precipitating factors are gastrointestinal diseases, other infectious disease, stressful events (e.g., major pain, surgery, strenuous physical activity, heat, and pregnancy), and withdrawal of glucocorticoid therapy. Suspected AC requires immediate therapeutic action with intravenous (iv) hydrocortisone, fluid infusion, monitoring support, and antibiotics if necessary. AC is best prevented through patient education, precocious identification and by adjusting the glucocorticoid dosage in stressor situations. The emergency card, warning about acute glucocorticoid replacement, has high value in reducing the morbidity and mortality of AC.


Subject(s)
Humans , Child , Adult , Addison Disease , Adrenal Insufficiency/etiology , Adrenal Hyperplasia, Congenital , Hydrocortisone , Glucocorticoids/therapeutic use
8.
Arch. argent. pediatr ; 119(4): e353-e356, agosto 2021. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1281861

ABSTRACT

La bibliografía no incluye frecuentemente alteraciones en el ritmo cardíaco de los pacientes que reciben corticoesteroides; se desconoce su mecanismo exacto. En este artículo, presentamos el caso de un paciente con bradicardia sinusal asociada con una dosis de estrés de corticoesteroides. Se ingresó a un niño de 9 años con antecedentes de panhipopituitarismo con gastroenteritis y neumonía y presentó choque septicémico el día de la hospitalización. El tratamiento con líquidos intravenosos, dosis de estrés de hidrocortisona y antibióticos permitió la recuperación. Sin embargo, luego se documentó bradicardia sinusal con una frecuencia cardíaca de 45 latidos por minuto. Esta se resolvió después de reducir gradualmente la hidrocortisona. La bradicardia sinusal inducida por corticoesteroides es un efecto adverso que suele resolverse tras interrumpir el tratamiento. Se debe considerar el monitoreo hemodinámico en estos casos. Este es el primer informe de bradicardia sinusal posterior al uso de hidrocortisona en niños con insuficiencia suprarrenal


The literature does not commonly describe cardiac rhythm disturbances, including bradycardia, in patients who are receiving corticosteroids, and the exact mechanism of such disturbances remains unknown. Herein, we present a case of sinus bradycardia associated with stress-dose corticosteroid therapy. A nine-year-old boy with a history of panhypopituitarism was admitted with gastroenteritis and pneumonia and developed septic shock on the day of admission. Management using intravenous fluids, stress doses of hydrocortisone, and antibiotics resulted in full recovery. However, within 24 hours following treatment, sinus bradycardia was documented, with a heart rate of 45 beats per minute (BPM). The bradycardia resolved after the dose of hydrocortisone was decreased gradually. Corticosteroidinduced sinus bradycardia is an adverse effect that usually resolves after corticosteroid treatment is discontinued. During stress-dose corticosteroid therapy, hemodynamic monitoring should be considered. To our knowledge, this is the first report of sinus bradycardia following the use of hydrocortisone in children who have adrenal insufficiency.


Subject(s)
Humans , Male , Child , Sinoatrial Node , Bradycardia/chemically induced , Hydrocortisone/adverse effects , Adrenal Insufficiency/drug therapy , Sepsis/drug therapy , Bradycardia/diagnosis , Bradycardia/drug therapy , Hydrocortisone/administration & dosage , Adrenal Insufficiency/complications , Sepsis/complications
9.
Cuad. Hosp. Clín ; 62(1): 63-71, jun. 2021. ilus
Article in Spanish | LILACS | ID: biblio-1284353

ABSTRACT

La enfermedad de Addison es una patología endocrinológica ocasionada por la disminución en la secreción de hormonas esteroideas por parte de la corteza adrenal; debida a múltiples etiologías (más comúnmente la tuberculosis en países en vías de desarrollo); con una evolución lenta, insidiosa y progresiva. Pudiendo llegar a una insuficiencia adrenal aguda, misma que puede llegar a ser de extrema gravedad; y en caso de no ser diagnosticada y tratada adecuadamente puede llevar a la muerte. El tratamiento primordial lo constituye la terapia hormonal sustitutiva con fármacos corticoesteroideos.


Addison's disease is an endocrinological pathology caused by the decrease in the secretion of steroid hormones by the adrenal cortex, due to multiple etiologies (most commonly tuberculosis in developing countries); with a slow, insidious and progressive evolution. Being able to reach an acute adrenal insufficiency, which can become extremely serious, and if it is not diagnosed and treated properly, it can lead to death. The primary treatment is hormone replacement therapy with corticosteroid drugs


Subject(s)
Humans , Female , Adult , Addison Disease , Adrenal Cortex Hormones , Adrenal Insufficiency , Tuberculosis , Hormone Replacement Therapy , Hormones , Hypothyroidism
10.
Medicina (B.Aires) ; 81(1): 69-75, mar. 2021. graf
Article in English | LILACS | ID: biblio-1287243

ABSTRACT

Abstract After a stressful event, adaptative mechanisms are carried out to support vital functions. Hypothalamic-pituitary-adrenal axis plays a key role in stress response regulating metabolism, cardiovascular function and immune system. This review addresses pathophysiological changes of the adrenal axis during critical illness, recognizing limitations of methods applied for its evaluation in this special context and defining indications for corticosteroid replacement in critically ill patients. The concept of relative adrenal insufficiency should be abandoned; cosyntropin stimulation test should not be performed for diagnosis of adrenal insufficiency in critical illness nor for establishing the need of treatment.


Resumen Diversos mecanismos adaptativos se ponen en marcha para sostener las funciones orgánicas vitales en el paciente crítico. El eje hipotálamo-hipófiso-adrenal tiene un papel clave en la respuesta al estrés al regular el metabolismo, la función cardiovascular y la respuesta inmune. Esta revisión tiene por objetivos analizar los cambios fisiopatológicos que se producen en el eje adrenal durante la enfermedad crítica, reconocer las limitaciones de los métodos diagnósticos y definir indicaciones de tratamiento de reemplazo corticoideo en este contexto. El concepto de insuficiencia adrenal relativa debe ser descartado y no se recomienda el test de estímulo con cosintropina para diagnóstico de insuficiencia adrenal durante enfermedad crítica ni para definir la necesidad de tratamiento.


Subject(s)
Humans , Critical Illness , Adrenal Insufficiency/diagnosis , Pituitary-Adrenal System , Hydrocortisone , Hypothalamo-Hypophyseal System
11.
Rev. chil. endocrinol. diabetes ; 14(3): 133-138, 2021. tab
Article in Spanish | LILACS | ID: biblio-1293389

ABSTRACT

El uso de opioides ha aumentado en forma significativa en las últimas décadas, lo que nos ha permitido conocer sus diversos efectos en el sistema endocrino. Estos efectos están sub diagnosticados, en parte porque los síntomas se confunden con los de la misma enfermedad que lleva al uso de opioides y porque no los buscamos de forma dirigida. El hipogonadismo y la insuficiencia suprarrenal son sus efectos más establecidos, sin embargo, otros efectos como los provocados en el tejido óseo requieren de especial atención. La evaluación de los ejes gonadotropo, adrenal y de la salud ósea debe tenerse en consideración en los usuarios crónicos de opioides, particularmente frente a la presencia de síntomas. La suspensión o reducción del uso de opioides es el primer tratamiento del compromiso endocrinológico.


The use of opioids has increased significantly in recent decades, which has allowed us to understand its effects on the endocrine system. These effects are underdiagnosed, the symptoms are confused with those of the same disease that leads to the use of opioids and we do not look for them in a targeted way. Hypogonadism and adrenal insufficiency are its most established effects, however, other effects such as the ones caused on bone tissue require special attention. Evaluation of gonadotropic and adrenal axes as well as bone health should be taken into consideration in chronic opioid users, particularly in the presence of symptoms. Stopping or reducing opioid use is the first treatment for endocrine compromise.


Subject(s)
Humans , Endocrine System Diseases/chemically induced , Endocrine System/drug effects , Analgesics, Opioid/adverse effects , Adrenal Insufficiency/chemically induced , Hypogonadism/chemically induced
12.
Rev. chil. endocrinol. diabetes ; 14(2): 81-89, 2021. ilus, tab
Article in Spanish | LILACS | ID: biblio-1283557

ABSTRACT

La Hiperplasia Suprarrenal Congénita (HSRC) corresponde a un grupo de defectos genéticos en la síntesis de cortisol. El 95% de ellas son debidas al déficit de 21-hidroxilasa por lo que nos referiremos solo a esta deficiencia. La hiperplasia suprarrenal congénita clásica (HSRC-C) debuta en recién nacidos o lactantes con insuficiencia suprarrenal primaria, diferentes grados de hiperandrogenismo clínico en mujeres y puede coexistir con hipotensión, hiperkalemia e hiponatremia si hay un déficit clínico de aldosterona. El objetivo de este artículo es actualizar el conocimiento y enfoques sugeridos para el manejo de la HSRC-C desde el inicio de sus controles en la etapa adulta. El diagnóstico diferencial en retrospectiva de la HSRC-C y la no clásica (HSRC-NC) a veces resulta difícil ya que esta enfermedad es un espectro fenotípico continuo. La insuficiencia suprarrenal y la dependencia a terapia corticoidal son los eventos principales para diferenciar estas dos patologías que tienen enfoques terapéuticos diferentes. El tratamiento de la HSRC-C en adultos abarca 2 objetivos primarios: la adecuada sustitución de la falla suprarrenal y el control de hiperandrogenismo mediante el uso de corticoides en sus dosis mínimas efectivas. En la mujer existen terapias complementarias para el control del hiperandrogenismo como anticonceptivos y otras que se encuentran en diferentes fases de investigación. Esto permite disminuir las dosis de corticoides en algunos casos. Es importante a la vez abordar tres objetivos secundarios: controlar el riesgo cardiometabólico propio de la enfermedad, evitar el sobre tratamiento corticoidal y manejar la infertilidad. La correcta monitorización del tratamiento en adultos tomando en cuenta los objetivos descritos permite una mejor calidad de vida en estos pacientes. Finalmente el consejo genético debe realizarse en todos los pacientes con HSRC que deseen fertilidad y en sus parejas. El estudio requiere de secuenciación del gen CYP21A2 y debe realizarse en un laboratorio de experiencia.


Congenital Adrenal Hyperplasia (CAH) are a group of genetic defects characterized by impaired cortisol synthesis. 95% of them are due to 21-hydroxylase deficiency. We will discuss only this enzyme's deficiency. Classic congenital adrenal hyperplasia (CAH-C) debuts in newborns or infants with primary adrenal insufficiency, some degree of clinical hyperandrogenism in newborn females, and can coexist with hypotension, hyperkalemia, and hyponatremia if there is a clinical aldosterone deficiency. The objective of this article is to update the knowledge and suggested approaches for the management of CAH-C from the beginning of its controls in the adult stage. The retrospective differential diagnosis of CAH-C and non-classical (CAH-NC) is sometimes difficult because this disease is a continuous phenotypic spectrum. Adrenal insufficiency and dependence on corticosteroid therapy are the main events to differentiate these two pathologies that have different therapeutic approaches. In adults, the treatment of CAH-C must include 2 primary objectives: adequate the replacement of adrenal failure and control of hyperandrogenism, through the use of corticosteroids in their minimum effective doses. In women there are complementary therapies for the control of hyperandrogenism, such as contraceptives and others that are in different phases of research. This makes it possible to reduce the doses of corticosteroids in some cases. It is important at the same time to address three secondary objectives: control the cardiometabolic risk of the disease secondary to corticosteroid treatment, avoid corticosteroid overtreatment and manage infertility. The correct monitoring of treatment in adults and taking in to account the objectives described, allows a better quality of life in these patients. Finally, genetic counseling must be carried out in all patients planning for children, with any type of CAH and in their partners. The study requires sequencing of the CYP21A2 gene and must be performed in a certified laboratory.


Subject(s)
Humans , Adrenal Hyperplasia, Congenital/therapy , Steroid 21-Hydroxylase , Adrenal Cortex Hormones/therapeutic use , Adrenal Insufficiency/etiology , Adrenal Insufficiency/therapy , Hyperandrogenism/etiology , Hyperandrogenism/therapy , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/diagnosis , Metabolic Syndrome/prevention & control , Flutamide/therapeutic use , Genetic Counseling , Infertility/etiology , Infertility/therapy
13.
Chinese Journal of Medical Genetics ; (6): 59-62, 2021.
Article in Chinese | WPRIM | ID: wpr-879523

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with congenital isolated adrenocorticotropic hormone deficiency (IAD).@*METHODS@#Clinical characteristics of the patient was reviewed. Genomic DNA of the child was subjected to whole exome sequencing.@*RESULTS@#Genetic testing has confirmed the diagnosis of congenital IAD by identification of compound heterozygous variants of the TBX19 gene, which included a pathogenic nonsense c.535C>T (p.R179X) variant inherited from his father and a novel missense c.298C>T (p.R100C) variant inherited from his mother.@*CONCLUSION@#Congenital IAD due to variants of the TBX19 gene is a rare autosomal recessive disease. It is characterized by low plasma adrenocorticotropic hormone and cortisol levels but normal levels of other pituitary hormones. Delayed diagnosis may lead to severe early-onset adrenal failure and wrong treatment which may result in neonatal mortality. Hydrocortisone replacement is effective. Detection of pathogenic variant of TBX19 gene is the key to diagnosis.


Subject(s)
Child , Humans , Adrenal Insufficiency/genetics , Homeodomain Proteins/genetics , T-Box Domain Proteins/genetics
14.
Medicina (B.Aires) ; 80(supl.6): 83-93, dic. 2020. graf
Article in English | LILACS | ID: biblio-1250323

ABSTRACT

Abstract The treatment of hypothyroidism is aimed at restoring the euthyroid state. In most cases, the signs and symptoms of thyroid deficiency generally resolve, which is particularly gratifying for the treating physician and mainly, for patients. However, there may be coexisting special situations that can potentially hinder or interfere with a successful treatment, as in the case of the elderly, patients suffering from heart disease, hematological diseases or dyslipidemia, hypothyroid patients who will undergo an emergency surgery, those with chronic kidney failure, or adrenal insufficiency, among others. Besides management of hypothyroidism in time of COVID-19 is also included. Some patients may experience intolerance to treatment and others persistent symptoms of hypothyroidism even under adequate replacement therapy, requiring a special approach. Being aware of these special situations will provide benefits to the patient and will also prevent treatment failure or complications.


Resumen El tratamiento del hipotiroidismo tiene como objetivo restaurar el estado eutiroideo. En la mayoría de los casos los signos y síntomas del déficit tiroideo en general se resuelven, lo cual es muy gratificante para el médico tratante y en especial para los pacientes. Sin embargo, pueden coexistir situaciones especiales que potencialmente dificulten o interfieran con un tratamiento exitoso como en el caso de los pacientes ancianos, aquellos con cardiopatías, enfermedades hematológicas o dislipemia, pacientes hipotiroideos que requieran cirugía de urgencia, aquellos con insuficiencia renal crónica, o insuficiencia adrenal, entre otras. Además, se incluye el manejo del hipotiroidismo en la era del COVID-19. Algunos pacientes pueden manifestar intolerancia al tratamiento y otros, persistencia de síntomas de hipotiroidismo aun bajo un adecuado reemplazo hormonal, lo cual requerirá un abordaje especial. Estar advertido de estas situaciones especiales redundará en el beneficio del paciente y evitará fracasos o complicaciones terapéuticas.


Subject(s)
Humans , Aged , Adrenal Insufficiency/drug therapy , COVID-19 , Hypothyroidism/drug therapy , SARS-CoV-2
15.
Rev. Hosp. Ital. B. Aires (2004) ; 40(3): 95-104, sept. 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1128985

ABSTRACT

La relación entre inmunidad y cáncer es compleja. Las células tumorales desarrollan mecanismos de evasión a las respuestas del sistema inmunitario. Esta capacidad permite su supervivencia y crecimiento. La inmunoterapia ha transformado el tratamiento oncológico mejorando la respuesta inmunitaria contra la célula tumoral. Esta se basa en el bloqueo de los puntos de control inmunitario mediante anticuerpos monoclonales contra la molécula inhibidora CTLA-4 (antígeno 4 del linfocito T citotóxico [CTLA-4]) y la proteína 1 de muerte celular programada y su ligando (PD-1/PD-L1). Aunque los inhibidores de los puntos de control inmunitario (ICIs) son fármacos bien tolerados, tienen un perfil de efectos adversos conocido como eventos adversos inmunorrelacionados (EAI). Estos afectan varios sistemas, incluyendo las glándulas endocrinas. Los eventos adversos endocrinos más frecuentes son la disfunción tiroidea, la insuficiencia hipofisaria, la diabetes mellitus autoinmune y la insuficiencia suprarrenal primaria. El creciente conocimiento de estos efectos adversos endocrinos ha llevado a estrategias de tratamiento efectivo con el reemplazo hormonal correspondiente. El objetivo de esta revisión es reconocer la incidencia de estas nuevas endocrinopatías, la fisiopatología, su valoración clínica y el manejo terapéutico. (AU)


The relationship between immunity and cancer is complex. Tumor cells develop evasion mechanisms to the immune system responses. This ability allows their survival and progression. Immunotherapy has transformed cancer treatment by improving the immune response against tumor cells. This is achieved by blocking immune checkpoints with monoclonal antibodies against cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) and programmed cell death protein 1 and its ligand (PD-1 / PD-L1). Although the immune checkpoint inhibitors (ICIs) are well tolerated drugs, they have a profile of adverse effects known as immune-related adverse events (irAES). These involve diverse systems, including the endocrine glands. The most frequent endocrine immune-related adverse events are thyroid and pituitary dysfunction, autoimmune diabetes mellitus and primary adrenal insufficiency. The increasing knowledge of these irAES has led to effective treatment strategies with the corresponding hormonal replacement. The objective of this review is to recognize the incidence of these new endocrinopathies, the physiopathology, their clinical evaluation, and therapeutic management. (AU)


Subject(s)
Humans , Endocrine System Diseases/chemically induced , Immunotherapy/adverse effects , Thyroid Diseases/diagnosis , Thyroid Diseases/chemically induced , Thyroid Diseases/pathology , Thyroid Diseases/therapy , Thyroxine/administration & dosage , Triiodothyronine/therapeutic use , Adrenal Cortex Hormones/administration & dosage , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/chemically induced , Adrenal Insufficiency/pathology , Adrenal Insufficiency/therapy , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/chemically induced , Diabetes Mellitus, Type 1/pathology , Diabetes Mellitus, Type 1/therapy , Endocrine System Diseases/diagnosis , Endocrine System Diseases/physiopathology , Endocrine System Diseases/therapy , Hypophysitis/diagnosis , Hypophysitis/chemically induced , Hypophysitis/pathology , Hypophysitis/therapy , Glucocorticoids/administration & dosage , Insulin/therapeutic use , Methimazole/therapeutic use , Mineralocorticoids/therapeutic use , Antibodies, Monoclonal/therapeutic use , Neoplasms/immunology
16.
Rev. chil. endocrinol. diabetes ; 13(3): 95-97, 2020.
Article in Spanish | LILACS | ID: biblio-1116916

ABSTRACT

La insuficiencia suprarrenal es un síndrome que se produce por la disminución de niveles séricos de glucocorticoides, la cual se clasifica en primaria o secundaria, según la etiología. El uso prolongado de corticoides exógenos a altas dosis puede producir una inhibición en el eje hipotálamo-hipofisiario-adrenal, y la supresión aguda de éstos produce insuficiencia suprarrenal secundaria. Los glucocorticoides inhalados, usados ampliamente como tratamiento del asma bronquial, pudiesen tener un impacto a nivel del eje adrenal, principalmente en la población pediátrica. Por el momento, si bien hay reportes de casos que evidencian insuficiencia suprarrenal secundaria al uso de corticoides tanto tópicos como inhalatorios, aún es materia de discusión esta interacción a nivel sistémico, con artículos que se contraponen en sus resultados. Se presenta un caso clínico de una paciente usuaria de glucocorticoides inhalatorios por el antecedente de asma bronquial, que desarrolla una clínica de insuficiencia suprarrenal en el periodo de lactancia.


Adrenal insufficiency is a syndrome that is produced by the decrease in serum glucocorticoid levels, which is classified as primary or secondary, according to the etiology. Prolonged use of exogenous corticosteroids at high doses may cause inhibition in the hypothalamic-pituitary-adrenal axis, and acute suppression of these results in secondary adrenal insufficiency. Inhaled glucocorticoids, widely used as a treatment for bronchial asthma, could have an impact at the level of the adrenal axis, mainly in the pediatric population. At the moment, although there are reports of cases that show adrenal insufficiency secondary to the use of both topical and inhalation corticosteroids, this interaction at systemic level is still a matter of discussion, with articles that contrast in their results. We present a clinical case of a patient using inhaled glucocorticoids due to a history of bronchial asthma, which develops a clinical of adrenal insufficiency in the period of breastfeeding.


Subject(s)
Humans , Female , Adult , Adrenal Insufficiency/chemically induced , Glucocorticoids/adverse effects , Asthma/drug therapy , Administration, Inhalation , Lactation , Glucocorticoids/administration & dosage
17.
Clinics ; 75: e2022, 2020. tab
Article in English | LILACS | ID: biblio-1133398

ABSTRACT

The coronavirus disease 2019 (COVID-19) is an emerging pandemic challenge. Acute respiratory distress syndrome (ARDS) in COVID-19 is characterized by a severe cytokine storm. Patients undergoing glucocorticoid (GC) replacement therapy for adrenal insufficiency (AI) represent a highly vulnerable group that could develop severe complications due to the SARS-CoV-2 infection. In this review, we highlight the strategies to avoid an adrenal crisis in patients with AI and COVID-19. Adrenal crisis is a medical emergency and an important cause of death. Once patients with AI present symptoms of COVID-19, the dose of GC replacement therapy should be immediately doubled. In the presence of any emergency warning signs or inability to administer oral GC doses, we recommend that patients should immediately seek Emergency services to evaluate COVID-19 symptoms and receive 100 mg hydrocortisone by intravenous injection, followed by 50 mg hydrocortisone intravenously every 6 h or 200 mg/day by continuous intravenous infusion.


Subject(s)
Humans , Hydrocortisone/administration & dosage , Adrenal Insufficiency/complications , Adrenal Insufficiency/drug therapy , Coronavirus Infections/prevention & control , Betacoronavirus , Glucocorticoids/administration & dosage , Pneumonia, Viral/prevention & control , Severity of Illness Index , Risk Factors , Pandemics/prevention & control , SARS-CoV-2 , COVID-19 , Injections, Intravenous
18.
Endocrinology and Metabolism ; : 188-191, 2020.
Article in English | WPRIM | ID: wpr-816614

ABSTRACT

X-linked adrenoleukodystrophy (X-ALD) occurs due to mutations in the ABCD1 gene that encodes the peroxisomal membrane protein peroxisomal transporter ATP-binding cassette sub-family D member 1 (ABCD1). Degradation of very long-chain fatty acids in peroxisomes is impaired owing to ABCD dysfunction, subsequently leading to adrenomyeloneuropathy, cerebral adrenoleukodystrophy, and adrenal insufficiency. X-ALD frequently induces idiopathic Addison's disease in young male patients. Here, we confirmed the diagnosis of X-ALD in a young male patient with primary adrenal insufficiency, and identified a novel ABCD1 gene mutation (p.Trp664*, c.1991 G>A).


Subject(s)
Humans , Male , Addison Disease , Adrenal Insufficiency , Adrenoleukodystrophy , Diagnosis , Fatty Acids , Membrane Proteins , Peroxisomes
20.
Rev. Soc. Bras. Clín. Méd ; 17(1): 35-37, jan.-mar. 2019. graf., tab.
Article in Portuguese | LILACS | ID: biblio-1026181

ABSTRACT

A doença de Addison é uma endocrinopatia rara, de etiologia autoimune. É caracterizada por défice na secreção de glicocorticoides e mineralocorticoides. A esclerose múltipla consiste em patologia neurológica, de origem autoimune, que resulta na desmielinização da bainha de mielina. O objetivo deste relato foi demonstrar a associação rara entre essas duas patologias e suas possíveis relações imunológicas. A paciente analisada é do sexo feminino, 41 anos, portadora de esclerose múltipla, que posteriormente foi diagnosticada com insuficiência adrenal primária. (AU)


Addison's disease is a rare endocrinopathy of autoimmune etiology. It is characterized by a secretion's deficit of glucocorticoids and mineralocorticoids. Multiple sclerosis is a neurological pathology of autoimmune origin, which results in demyelination of the myelin sheath. The purpose of this report is to demonstrate the uncommon association between these two pathologies and their possible immunological relationships. The analyzed patient is a woman, 41 years old, with multiple sclerosis, who was later diagnosed with primary adrenal insufficiency. (AU)


Subject(s)
Humans , Female , Adult , Addison Disease/diagnosis , Multiple Sclerosis/diagnosis , Potassium/blood , Asthenia , Autoimmune Diseases/diagnosis , Sodium/blood , Vomiting , Immunoglobulins/therapeutic use , Hydrocortisone/blood , Prednisone/therapeutic use , Addison Disease/complications , Addison Disease/genetics , Addison Disease/drug therapy , Magnetic Resonance Spectroscopy , Tomography , Weight Loss , Abdominal Pain , Hyperpigmentation , Adrenal Cortex Hormones/therapeutic use , Adrenal Insufficiency/diagnostic imaging , Adrenocorticotropic Hormone/blood , Diagnosis, Differential , Glucocorticoids/therapeutic use , Glucose Tolerance Test , Hypoglycemia/etiology , Hyponatremia/etiology , Hypotension/etiology , Immunologic Factors/therapeutic use , Multiple Sclerosis/genetics , Multiple Sclerosis/drug therapy , Nausea
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