Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia. / Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica.

Familial hypobetalipoproteinaemia is a disorder of lipid metabolism characterized by low levels of total cholesterol, low-density lipoprotein cholesterol and apolipoprotein B. ApoB-related familial hypolipoproteinemia is an autosomal condition with a codominance inheritance pattern. Non-classical congenital adrenal hyperplasia is an autosomal recessive disorder due to mutations in the CYP21A2, a gene encoding for the enzyme 21-hydroxylase, which results in an androgen excess production from adrenal source. We here present the case of a 25-year-old woman with NCAH showing decreased levels of total-cholesterol, low-density lipoprotein cholesterol and triglycerides. Her parent had digestive symptoms and severe hepatic steatosis with elevated liver enzymes, as well as decreased levels of total and low-density lipoprotein cholesterol. A genetic-molecular study of the proband identified a mutation in the APOB gene, which allowed a diagnosis of heterozygous ApoB-related hypolipoproteinaemia to be made.

Hiperplasia suprarrenal congénita clásica de presentación neonatal. Reporte de un caso clínico

Introducción: la hiperplasia suprarrenal congénita (HSC) comprende un conjunto de enfermedades hereditarias que involucran alteraciones en el ciclo del cortisol a nivel enzimático. La forma clásica tiene una incidencia de 1:14.000 a 1:18.000 nacimientos, mientras que la no clásica se presenta en 1:2.000 recién nacidos. Según la enzima involucrada, las manifestaciones clínicas varían desde asintomáticas a alteraciones en medio interno que comprometen la vida, por lo que debe tenerse un alto nivel de sospecha clínica para diagnosticarla en forma oportuna. En Uruguay, desde el año 2007, se cuenta con el pesquisaje de la 17-OH progesterona, producto aumentado en la forma más frecuente de HSC. El diagnóstico prenatal mediante la búsqueda de mutaciones en el gen CYP21A2, a través de punción de vellosidades coriales o amniocentesis, o del ADN fetal en sangre materna se recomienda en HSC con ambos padres portadores de la mutación severa y el antecedente de un hijo previo con la forma clásica. El tratamiento prenatal se considera en etapa experimental, con dexametasona en fetos femeninos con riesgo de enfermedad clásica, manteniéndose con la confirmación hasta el parto. Se presenta el caso clínico de una recién nacida de 11 días con HSC perdedora de sal y virilización de genitales externos, diagnosticada por la pesquisa neonatal. Se reporta su manejo interdisciplinario y evolución. Conclusiones: la hiperplasia suprarrenal es una enfermedad hereditaria potencialmente grave. La pesquisa neonatal constituye una herramienta efectiva para la detección de esta enfermedad. El manejo multidisciplinario es clave para el seguimiento y la optimización del tratamiento.

Summary: Introduction: congenital adrenal hyperplasia (CAH) involves a set of hereditary diseases that include alterations in the cortisol cycle, at enzymatic level. The classic variant has an incidence of 1:14,000 to 1:18,000 births, while the non-classic one occurs in 1:2,000 newborns. As a result of the enzyme involved, the clinical manifestations change from asymptomatic to alterations in the internal environment that compromise life, so clinical suspicion must be high in order to diagnose it in a timely manner. The diagnosis is more frequently made by neonatal screening than by physical examination, and it is a more sensitive method, especially in males, since there are no changes at the level of external genitalia. The implementation of screening has reduced the time prior to diagnosis. In Uruguay, since 2007, a universal screening has been carried out measuring 17-OH progesterone, which is increased in the most frequent form of CAH. Treatment is lifelong, consisting of oral glucocorticoids (hydrocortisone) and mineralocorticoids (fludrocortisone). We recommend prenatal diagnosis by searching for mutations in the CYP21A2 gene through chorionic villus puncture or amniocentesis, or fetal DNA in maternal blood in cases of CAH if both parents are carriers of the severe mutation and have a history of a previous classic case. Prenatal treatment with dexamethasone is considered in the experimental stage, in female fetuses at risk of the standard disease, which is maintained until birth if confirmed. We present a clinical case of an 11-day-old newborn with salt-wasting congenital adrenal hyperplasia and virilization of the external genitalia, diagnosed by neonatal screening. We report her management and interdisciplinary evolution. Conclusion: adrenal hyperplasia is a potentially serious inherited disease. Neonatal screening is an effective tool for detecting this disease. Multidisciplinary management is key to monitoring and optimizing treatment.

Introdução: a hiperplasia adrenal congênita (HAC) compreende um conjunto de doenças hereditárias que envolvem alterações no ciclo do cortisol, em nível enzimático. A forma clássica tem incidência de 1:14.000 a 1:18.000 nascimentos, enquanto a forma não clássica ocorre em 1:2.000 recém-nascidos. Dependendo da enzima envolvida, as manifestações clínicas variam de assintomáticas até alterações do ambiente interno que comprometem a vida, portanto é necessário ter um alto nível de suspeita clínica para diagnosticá-la em forma precoce. No Uruguai, desde 2007, existe triagem para 17-OH progesterona, produto aumentado na forma mais frequente de HAC. O diagnóstico pré-natal pela busca de mutações no gene CYP21A2 por meio de punção de vilosidades coriônicas ou amniocentese, ou DNA fetal no sangue materno é recomendado na HAC com ambos os pais portadores da mutação grave e história de filho anterior com a forma clássica. O tratamento pré-natal é considerado em fase experimental, com dexametasona em fetos femininos com risco de doença clássica, continuando com confirmação até o parto. É apresentado o caso clínico de um recém-nascido de 11 dias com hiperplasia adrenal congênita perdedora de sal e virilização da genitália externa, diagnosticado por triagem neonatal. Relatamos sua gestão interdisciplinar e evolução. Conclusões: a hiperplasia adrenal é uma doença hereditária potencialmente grave. A triagem neonatal é uma ferramenta eficaz para detectar esta doença. O manejo multidisciplinar é fundamental para monitorar e otimizar o tratamento.

A rare case of multiple visceral vascular variations around the kidneys: morphological and clinical aspects / Um caso raro de múltiplas variações vasculares viscerais ao redor dos rins: aspectos morfológicos e clínicos

Abstract Knowledge of the anatomical variations of the visceral branches of the abdominal aorta is important information for planning any surgeries in the region. We present here a rare constellation of variations of visceral vessels around the kidneys with a brief review of the recent literature. On the right side, an accessory renal artery was observed originating just distal to the main renal artery. The middle suprarenal artery was absent on the right side and there were two inferior suprarenal arteries originating from a branch of the main right renal artery. On the left side, the testicular artery had an arched course anterior to the left renal vein mimicking an unusual variety of nutcracker phenomenon. The right kidney was drained by two renal veins into the inferior vena cava. Knowledge of the coexistence of such complex anatomical variations might be helpful for clinicians during diagnostic and therapeutic procedures.

Resumo O conhecimento das variações anatômicas dos ramos viscerais da aorta abdominal é uma informação importante para o planejamento de qualquer cirurgia nessa região. Neste relato, apresentamos um raro conjunto de variações de vasos viscerais ao redor dos rins, bem como uma breve revisão da literatura recente. No lado direito, foi observada uma artéria renal acessória originando-se distal à artéria renal principal. Não havia artéria suprarrenal média no lado direito, e havia duas artérias suprarrenais inferiores originando-se de um ramo da artéria renal direita. No lado esquerdo, a artéria testicular apresentava um curso arqueado anterior à veia renal esquerda, simulando uma variedade incomum do fenômeno do quebra-nozes. O rim direito era drenado por duas veias renais para a veia cava inferior. O conhecimento da coexistência de tais variações anatômicas complexas pode ser útil para os clínicos durante os procedimentos diagnósticos e terapêuticos.

Influence of obesity and overweight in surgical outcomes of adrenalectomy for primary adrenal disease: A cohort study of 146 cases.

OBJECTIVE: To evaluate the impact of obesity and overweight on surgical outcomes in a large cohort of patients who underwent adrenalectomy due to benign or malignant primary adrenal disease. METHODS: A retrospective single-center study of patients without history of active extraadrenal malignancy, with adrenal tumors operated on consecutively in our center between January 2010 and December 2022. Obesity was defined as a body mass index (BMI)≥30kg/m2 and overweight as BMI between 25.0 and 30.0kg/m2. RESULTS: Of 146 patients with adrenal tumors who underwent adrenalectomy, 9.6% (n=14) were obese, 54.8% (n=80) overweight and 35.6% (n=52) normal weight. Obese patients had higher diastolic blood pressure (87.6±12.22 vs. 79.3±10.23mmHg, P=0.010) and a higher prevalence of dyslipidemia (57.1% vs. 25.8%, P=0.014) and bilateral tumors (14.3% vs. 3.1%, P=0.044) than non-obese patients. The rates of intraoperative and of postsurgical complications were similar between obese/overweight patients and patients with normal weight. However, a significantly higher rate of postsurgical complications (27.3% vs. 5.7%, P=0.009) and a longer hospital stay (5.4±1.39 vs. 3.5±1.78 days, P=0.007) were observed in patients with obesity than in non-obese patients. In the multivariant analysis, obesity, age, ASA>2 and tumor size were independent risk factors for postoperative complications, with obesity being the most important factor (OR 23.34 [2.23-244.24]). CONCLUSION: Obesity and overweight are common conditions in patients who undergo adrenalectomy. Adrenalectomy is considered a safe procedure in patients with overweight, but it is associated with a higher risk of postsurgical complications and longer hospital stay in obese patients.

Clinical course and endocrine dysfunction in X-linked adrenoleukodystrophy: A case series.

BACKGROUND AND PURPOSE: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder affecting particularly the nervous tissue and adrenal cortex. Adrenomyeloneuropathy (AMN) is the most frequent phenotype, although adrenal insufficiency is usually the first manifestation in male patients. We set out to describe the clinical and biochemical features, together with the clinical course of X-ALD patients, focusing particularly on endocrine dysfunction. PATIENTS AND METHODS: A retrospective study of 10 male X-ALD patients followed up at the Endocrinology Department. Epidemiologic data, phenotype evolution, endocrine and neurological findings and family history were analysed. RESULTS: All the patients presented with adrenal insufficiency, 4 of them during adulthood, with a mean age of 19.6±17.1 years (6-64 years). Six patients had mineralocorticoid deficiency. At diagnosis, 8 patients had Addison-only phenotype and 2 AMN phenotype. In the course of follow-up (24.9±16.1 years), 4 patients developed AMN about 25.0±7.4 years after the initial diagnosis and 2 patients presented the cerebral adult form 11 and 17 years after the initial diagnosis. Testosterone levels were within the normal range in all patients. There were 7 families, and age of onset and clinical course were similar in 3 of them. CONCLUSIONS: The presentation of X-ALD varied widely, 40% of the patients presented with adrenal insufficiency in adulthood, 60% had mineralocorticoid deficiency, and the onset and progression of neurological manifestations showed no pattern. Nevertheless, some similarities in the clinical course were found in some families. Our findings reinforce the need for screening for X-ALD at any age when approaching adrenal insufficiency and the importance of a multidisciplinary approach between endocrinologists and neurologists.

Determinación de valores de corte de 17 hidroxiprogesterona ajustados por edad gestacional para la pesquisa neonatal de la hiperplasia suprarrenal congénita / Assessment of gestational age-adjusted 17-hydroxyprogesterone cut-off values for neonatal screening of congenital adrenal hyperplasia

La pesquisa neonatal de hiperplasia suprarrenal congénita se realiza mediante la determinación de 17 hidroxiprogesterona (17OHP) en gotas de sangre seca en papel de filtro. Los bebés prematuros presentan valores más elevados que los bebés de término, siendo de utilidad contar con límites de corte apropiados. Nuestro objetivo fue actualizar los valores de corte de 17OHP ajustados por edad gestacional para la metodología en uso a nivel nacional por las jurisdicciones asistidas por el "Programa Nacional de Fortalecimiento de la Detección Precoz de Enfermedades Congénitas". La 17OHP se determinó utilizando el kit comercial de enzimo-inmunoanálisis (ELISA competitivo), Elizen Neonatal 17OHP Screening (Zentech, Bélgica). Se obtuvieron límites de corte utilizando percentiles de la distribución de los valores de 17OHP para cada edad gestacional. La sensibilidad obtenida fue 100%, especificidad 98,76 %, tasa de falsos positivos 1,24 % y el valor predictivo positivo 1,12 %. Destacamos la importancia de disponer de límites de corte adecuados a la población. La armonización de los mismos permitirá resultados comparables entre los programas regionales de pesquisa neonatal (AU)

Newborn screening for congenital adrenal hyperplasia is performed by the measurement of 17-hydroxyprogesterone (17OHP) in dried blood spots on filter paper. Premature infants have higher values than full-term infants, and appropriate cutoff values are useful. Our aim was to update the cut-off values of 17OHP adjusted for gestational age for the methodology used at a national level in regions assisted by the "National Program for Strengthening the Early Detection of Congenital Diseases". 17OHP was determined using the commercial enzyme-linked immunosorbent assay (competitive ELISA) kit, Elizen Newborn 17OHP Screening (Zentech, Belgium). Cut-off values were obtained using percentiles of the distribution of 17OHP values for each gestational age. Sensitivity was 100%, specificity 98.76%, false positive rate 1.24%, and positive predictive value 1.12%. It is important to have cut-off values that are adjusted to the population. Harmonization will allow for the comparison of results among regional newborn screening programs (AU)

Primary bilateral macronodular adrenal hyperplasia: A series of 32 cases and literature review.

Primary bilateral macronodular adrenal hyperplasia (PBMAH) accounts for <2% of cases of Cushing's syndrome. The majority of patients present with no obvious steroid excess it means with autonomous cortisol secretion (ACS). The classic treatment for patients with overt Cushing's syndrome is bilateral adrenalectomy, but unilateral resection of the larger adrenal gland can result in clinical and/or biochemical remission in >90% of cases, especially in cases of ACS. In this article, a series of 32 cases with PBMAH is described. Most of the cases of PBMAH had ACS, except for one case with overt Cushing's syndrome. A study of aberrant receptors was performed in six patients, being negative in three cases, positive in the metoclopramide test in two cases and positive in the metoclopramide test and in the mixed meal test in another patient. The patient with overt Cushing's syndrome was treated with adrenostatic therapy achieving biochemical control, while two patients with ACS underwent unilateral adrenalectomy with resection of the largest adrenal gland, demonstrating hypercortisolism remission and improvement of cardiovascular risk factors after surgery. This article describes a series of 32 cases of PBMAH and offers a comprehensive review of PBMAH.

Mielolipoma gigante unilateral de la glándula suprarrenal. Reporte de caso

Introducción: Los tumores de la glándula suprarrenal son inusuales y por lo general son hallados de forma incidental por estudios de imágenes. Dentro de este grupo los mielolipomas son uno de los tumores más raros, considerados el 2% de los tumores suprarrenales. Caso Clínico: Presentamos una paciente femenina de 60 años de edad con antecedentes de dolor a tipo cólico de forma esporádica a nivel del hipocondrio derecho. La ecografía abdominal detectó colelitiasis y una masa sugerente de adenoma suprarrenal izquierdo. La tomografía abdominal corroboró el tumor suprarrenal gigante y la litiasis vesicular. Se realizó suprarrenalectomía y colecistectomía convencional sin complicaciones. El diagnóstico histopatológico mostró un mielolipoma suprarrenal y una colecistitis crónica. Discusión: El mielolipoma suprarrenal es infrecuente, la etiología se desconoce, por lo general es asintomático y su hallazgo es incidental, habitualmente son unilaterales, menores a 4cm y la incidencia aumenta con la edad. Conclusiones: Cuando los mielolipomas alcanzan dimensiones mayores de 10cm se recomienda realizar una suprarrenalectomía convencional.

Introduction: Adrenal gland tumors are unusual and are usually found incidentally by imaging studies. Within this group, myelolipomas are one of the rarest tumors, considered 2% of adrenal tumors. Clinical case: We present a 60-year-old female patient with a history of sporadically colicky pain at the level of the right hypochondrium. Abdominal ultrasound revealed cholelithiasis and a mass suggestive of a left adrenal adenoma. Abdominal tomography confirmed a giant adrenal tumor and gallstones. An adrenalectomy and conventional cholecystectomy were performed without complications. The histopathological diagnosis showed an adrenal myelolipoma and chronic cholecystitis. Discussion: Adrenal myelolipoma is infrequent, the etiology is unknown, it is usually asymptomatic and its finding is incidental, they are usually unilateral, smaller than 4cm and the incidence increases with age. Conclusions: When myelolipomas reach dimensions greater than 10cm, conventional adrenalectomy is recommended. In selected cases.

Clinically important left superior polar artery giving rise to a left inferior suprarenal artery and an aberrant left inferior polar artery: a case report / Artéria polar superior esquerda de importância clínica dando origem à artéria suprarrenal inferior esquerda e artéria polar inferior esquerda aberrante: relato de caso

Abstract The renal arteries arise from the lateral side of the abdominal aorta at the L2 vertebral level, just below the origin of the superior mesenteric artery. Multiple aberrant renal arteries can pose difficulties in renal transplantation, interventional radiological and urological procedures, renal artery embolization, angioplasty, or vascular reconstruction for congenital and acquired lesions. We present a case of a left kidney supplied by the left renal artery along with superior and inferior polar arteries, arising from the aorta and inferior mesenteric artery respectively. The inferior mesenteric artery was crossed by the left ureter and inferior mesenteric vein. The superior polar artery gave rise to an inferior suprarenal artery making the variation important for clinicians and surgeons.

Resumo As artérias renais originam-se do lado lateral da aorta abdominal, no nível da vértebra L2, logo abaixo da origem da artéria mesentérica superior. A presença de múltiplas artérias renais aberrantes pode representar dificuldades para transplante renal, procedimentos radiológicos e urológicos intervencionistas, embolização da artéria renal, angioplastia e reconstrução vascular para lesões congênitas e adquiridas. Apresentamos um caso de rim esquerdo vascularizado pela artéria renal esquerda e pelas artérias polares superior e inferior, as quais se originavam da aorta e da artéria mesentérica inferior, respectivamente. A artéria mesentérica inferior era cruzada pelo ureter esquerdo e pela veia mesentérica inferior. A artéria polar superior dava origem à artéria suprarrenal inferior, o que torna essa variação importante para clínicos e cirurgiões.

Prevalencia y fenotipo de la hiperplasia suprarrenal macronodular bilateral primaria con secreción autónoma de cortisol: un estudio de 98 pacientes / Prevalence and phenotype of primary bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion: a study of 98 patients

Objetivo Se evaluó la prevalencia de hiperplasia suprarrenal macronodular bilateral primaria (PBMAH). También se analizó el fenotipo diferencial de los pacientes con PBMAH en comparación con otras lesiones suprarrenales bilaterales que no cumplían con la definición de PBMAH. Métodos Revisamos las historias clínicas de 732 pacientes diagnosticados de incidentaloma suprarrenal en nuestro centro. Se incluyeron 98 pacientes con hipercortisolismo subclínico para el análisis. Se definió PBMAH como la presencia de cortisol plasmático > 1,8 μg/dL después de una prueba de 1 mg de dexametasona durante la noche, hiperplasia suprarrenal bilateral y nódulos suprarrenales bilaterales > 1 cm. Resultados Un total de 31 pacientes tenían PBMAH. Los pacientes con PBMAH mostraron una mayor prevalencia de secreción autónoma de cortisol (cortisol plasmático > 5,0 μg/dL después de la prueba de 1 mg de dexametasona durante la noche) que los pacientes sin PBMAH (OR 4,1, IC del 95%: 1,38-12,09, p = 0,010). El tamaño del tumor y la masa adenomatosa total fueron significativamente mayores en pacientes con PBMAH en comparación con los pacientes sin PBMAH (30,2 ± 12,16 vs. 24,3 ± 8,47 mm, p = 0,010 y 53,9 ± 20,8 vs. 43,3 ± 14,62 mm, p = 0,023), respectivamente. Una mayor proporción de pacientes con PBMAH tenían diabetes en comparación con los pacientes sin PBMAH (45,2% vs. 25,4%, p = 0,05). Conclusión PBMAH está presente en un tercio de los pacientes con incidentaloma suprarrenal e hipercortisolismo subclínico. Los pacientes con PBMAH mostraron una mayor secreción autónoma de cortisol, mayor tamaño del tumor y diabetes que aquellos sin PBMAH (AU)

Aim This study evaluated prevalence of primary bilateral macronodular adrenal hyperplasia (PBMAH). It also analyzed the differential phenotype of patients with PBMAH compared to other bilateral adrenal lesions that do not meet the definition of PBMAH. Methods We reviewed the medical records of 732 patients diagnosed with an adrenal incidentaloma at our center. Ninety-eight patients with subclinical hypercortisolism were included in the analysis. We defined PBMAH as the presence of plasma cortisol > 1.8 μg/dL after an over-night 1-mg dexamethasone test, bilateral adrenal hyperplasia, and bilateral adrenal nodules > 1 cm. Results A total of 31 patients had PBMAH. Patients with PBMAH showed greater prevalence of autonomous cortisol secretion (plasma cortisol > 5.0 μg/dL after an overnight 1-mg dexamethasone test) than patients without PBMAH (OR 4.1, 95%CI 1.38-12.09, p = 0.010). Tumor size and total adenomatous mass were significantly greater in patients with PBMAH compared to patients without PBMAH (30.2 ± 12.16 vs. 24.3 ± 8.47 mm, p = 0.010 and 53.9 ± 20.8 vs. 43.3 ± 14.62 mm, p = 0.023), respectively. A greater proportion of patients with PBMAH had diabetes compared to patients without PBMAH (45.2% vs. 25.4%, p = 0.05). Conclusion PBMAH is present in one-third of patients with adrenal incidentaloma and subclinical hypercortisolism. Patients with PBMAH showed greater autonomous cortisol secretion, bigger tumor size, and higher rates of diabetes than those without PBMAH (AU)

Feocromocitoma adrenal gigante derecho. Reporte de un caso / Right giant adrenal pheochromocytoma. A case report

Introducción. El feocromocitoma es una neoplasia endocrina productora de catecolaminas, poco común, que generalmente se origina en la medula suprarrenal, y rara vez en el tejido cromafín extraadrenal, dándosele el nombre de paraganglioma. Existe una gran variedad de signos y síntomas secundarios a la secreción excesiva de catecolaminas por lo que su diagnóstico y tratamiento oportunos son fundamentales para evitar complicaciones potencialmente fatales. Caso clínico. Paciente femenina de 54 años, con dolor abdominal intermitente y con aumento progresivo, localizado en el cuadrante superior derecho. Por estudios imagenológicos se diagnosticó una gran masa suprarrenal derecha, con pruebas de laboratorio que encontraron niveles de metanefrinas y catecolaminas en orina normales. Discusión. Debido al tamaño del tumor y al íntimo contacto con las estructuras adyacentes, se realizó la resección por vía abierta, sin complicaciones y con una buena evolución postoperatoria. El informe anatomopatológico confirmó el diagnóstico de feocromocitoma suprarrenal derecho. Conclusión. Aunque poco frecuente, el feocromocitoma es una patología que se debe sospechar ante la presencia de masas suprarrenales y alteraciones relacionadas con la secreción elevada de catecolaminas. Se debe practicar el tratamiento quirúrgico de forma oportuna.

Introduction. Pheochromocytoma is a rare catecholamine-producing endocrine neoplasm that generally originates in the adrenal medulla, and rarely in extra-adrenal chromaffin tissue, giving it the name of paraganglioma. There is a wide variety of signs and symptoms secondary to excessive secretion of catecholamines, so its timely diagnosis and treatment are essential to avoid potentially fatal complications. Clinical case. A 54-year-old female patient with intermittent abdominal pain and progressive increase, located in the right upper quadrant. By imaging studies, a large right adrenal mass was diagnosed, with laboratory tests that found normal levels of metanephrines and catecholamines in urine. Discussion. Due to the size of the tumor and the intimate contact with the adjacent structures, the resection was performed by open approach, without complications and with a good postoperative evolution. The pathology report confirmed the diagnosis of right adrenal pheochromocytoma. Conclusion. Although rare, pheochromocytoma is a pathology that should be suspected in the presence of adrenal masses and changes related to elevated catecholamine secretion. Surgical treatment should be performed in a timely manner.

Crisis suprarrenal: prevención, corticoterapia y elección del fármaco, revisión de la evidencia actual y recomendaciones / Adrenal crisis: prevention, corticotherapy and choice of the drug, review of current evidence and recommendations

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.

Prevalence and phenotype of primary bilateral macronodular adrenal hyperplasia with autonomous cortisol secretion: a study of 98 patients.

AIM: This study evaluated prevalence of primary bilateral macronodular adrenal hyperplasia (PBMAH). It also analyzed the differential phenotype of patients with PBMAH compared to other bilateral adrenal lesions that do not meet the definition of PBMAH. METHODS: We reviewed the medical records of 732 patients diagnosed with an adrenal incidentaloma at our center. Ninety-eight patients with subclinical hypercortisolism were included in the analysis. We defined PBMAH as the presence of plasma cortisol > 1.8 µg/dL after an over-night 1-mg dexamethasone test, bilateral adrenal hyperplasia, and bilateral adrenal nodules > 1 cm. RESULTS: A total of 31 patients had PBMAH. Patients with PBMAH showed greater prevalence of autonomous cortisol secretion (plasma cortisol > 5.0 µg/dL after an overnight 1-mg dexamethasone test) than patients without PBMAH (OR 4.1, 95%CI 1.38-12.09, p = 0.010). Tumor size and total adenomatous mass were significantly greater in patients with PBMAH compared to patients without PBMAH (30.2 ±â€¯12.16 vs. 24.3 ±â€¯8.47 mm, p = 0.010 and 53.9 ±â€¯20.8 vs. 43.3 ±â€¯14.62 mm, p = 0.023), respectively. A greater proportion of patients with PBMAH had diabetes compared to patients without PBMAH (45.2% vs. 25.4%, p = 0.05). CONCLUSION: PBMAH is present in one-third of patients with adrenal incidentaloma and subclinical hypercortisolism. Patients with PBMAH showed greater autonomous cortisol secretion, bigger tumor size, and higher rates of diabetes than those without PBMAH.

Adrenalectomía laparoscópica bilateral sincrónica: técnica quirúrgica y resultados perioperatorios en 13 años de experiencia / Synchronous bilateral laparoscopic adrenalectomy: Surgical technique and perioperative results of a 13-years’ experience

Introducción y objetivos: La cirugía laparoscópica se ha convertido en el abordaje estándar para el tratamiento de las glándulas suprarrenales. Debido a que la adrenalectomía bilateral sincrónica no se realiza con frecuencia, la evidencia sobre este procedimiento es limitada. Nuestro objetivo es reportar nuestra experiencia de 13 años con la adrenalectomía bilateral laparoscópica sincrónica, evaluando su viabilidad, seguridad y resultados perioperatorios.Pacientes y métodos: Un total de 23 pacientes consecutivos sometidos a adrenalectomía laparoscópica bilateral sincrónica entre 2007 y 2020 en un único centro académico fueron incluidos en el estudio. Las variables evaluadas fueron el tiempo quirúrgico, la pérdida media estimada de sangre, la conversión a cirugía abierta, las complicaciones postoperatorias, la mortalidad y la duración de la estancia postoperatoria.Resultados: El tiempo operatorio medio fue de 189,3±48,9min. La media de pérdida de sangre estimada fue de 163,0±201,3ml. No hubo conversiones a cirugía abierta. Cinco pacientes tuvieron complicaciones postoperatorias y 3 de estas fueron graves. Ningún paciente falleció durante el periodo perioperatorio. La mediana del tiempo de estancia postoperatoria fue de 3 días (rango 1-30). En el análisis patológico 15 pacientes tenían hiperplasia suprarrenal bilateral, 2 hiperplasia suprarrenal unilateral y un tumor benigno contralateral, uno hiperplasia suprarrenal unilateral y glándula contralateral normal, otro adenoma unilateral, 3 feocromocitomas bilaterales y uno mielolipoma bilateral.Conclusión: La adrenalectomía laparoscópica bilateral sincrónica es una técnica factible y segura. Se requiere un equipo multidisciplinar y experimentado que incluya anestesistas y endocrinólogos. (AU)

Introduction and objectives: Laparoscopic surgery is the standard approach for the treatment of adrenal glands. Bilateral synchronous adrenalectomy is rarely performed, and evidence about this procedure is limited. Our objective is to report our 13-year experience with synchronous laparoscopic bilateral adrenalectomy, evaluating its feasibility, safety, and perioperative outcomes.Patients and methods: A total of 23 consecutive patients undergoing synchronous bilateral laparoscopic adrenalectomy between 2007 and 2020 in a single academic center were included. Variables evaluated were operative time, estimated blood loss, conversion to open surgery, postoperative complications, mortality, and postoperative length of stay.Results: Mean operative time was 189.3±48.9min. Mean estimated blood loss was 163.0±201.3ml. There were no conversions to open surgery. Five patients had postoperative complications, three of those were major. No patient died in the perioperative period. Median postoperative length of stay was three days (range 1-30). At pathology analysis, 15 patients had bilateral adrenal hyperplasia, 2 unilateral adrenal hyperplasia and a contralateral benign tumor, 1 unilateral adrenal hyperplasia and a normal contralateral gland, 1 unilateral adenoma, 3 bilateral pheochromocytomas and 1 bilateral myelolipoma.Conclusion: Synchronous bilateral laparoscopic adrenalectomy is a feasible and safe technique. A multidisciplinary and experienced team involving anesthesiologists and endocrinologists is required. (AU)

Synchronous bilateral laparoscopic adrenalectomy: Surgical technique and perioperative results of a 13-years' experience.

INTRODUCTION AND OBJECTIVES: Laparoscopic surgery is the standard approach for the treatment of adrenal glands. Bilateral synchronous adrenalectomy is rarely performed, and evidence about this procedure is limited. Our objective is to report our 13-year experience with synchronous laparoscopic bilateral adrenalectomy, evaluating its feasibility, safety, and perioperative outcomes. PATIENTS AND METHODS: A total of 23 consecutive patients undergoing synchronous bilateral laparoscopic adrenalectomy between 2007 and 2020 in a single academic center were included. Variables evaluated were operative time, estimated blood loss, conversion to open surgery, postoperative complications, mortality, and postoperative length of stay. RESULTS: Mean operative time was 189.3 ±â€¯48.9 min. Mean estimated blood loss was 163.0 ±â€¯201.3 mL. There were no conversions to open surgery. Five patients had postoperative complications, three of those were major. No patient died in the perioperative period. Median postoperative length of stay was three days (range 1-30). At pathology analysis, 15 patients had bilateral adrenal hyperplasia, 2 unilateral adrenal hyperplasia and a contralateral benign tumor, 1 unilateral adrenal hyperplasia and a normal contralateral gland, 1 unilateral adenoma, 3 bilateral pheochromocytomas and 1 bilateral myelolipoma. CONCLUSION: Synchronous bilateral laparoscopic adrenalectomy is a feasible and safe technique. A multidisciplinary and experienced team involving anesthesiologists and endocrinologists is required.

Paracoccidioidomicosis diseminada en paciente inmunocompetente: reporte de caso / Disseminated Paracoccidioidomycosis in immunocompetent patient: case report

Resumen La Paracoccidioidomicosis (PCM) es una infección micótica endémica en Latinoamérica que se caracteriza por compromiso multiorgánico. El diagnóstico tardío y la diseminación sistémica favorecen complicaciones como falla respiratoria e insuficiencia suprarrenal que condicionan el desenlace del paciente. Se presenta el caso de un paciente de 51 años de edad, procedente de la costa pacífica colombiana, inmunocompetente con PCM diseminada a sistema nervioso central (SNC), pulmones y glándulas suprarrenales con debut clínico de síndrome neurológico. Durante estancia hospitalaria presenta pico febril, colapso hemodinámico, aci dosis metabólica severa e hiperlactatemia. Se hemocultivó e inició tratamiento antimicrobiano de amplio espectro con piperacilina-tazobactam (4.5 gr/IV cada 8 horas), vancomicina (15 mg/kg) más anfotericina B desoxicolato (1 mg/kg/dia) y se trasladó a unidad de cuidado intensivo. En la muestras de tejido suprarrenal se identificaron levaduras multigemantes de Paracoccidioides spp e inflamacion crónica granulomatosa. A los seis días posteriores a su ingreso, el paciente continuó con deterioro hemodinámico, desequilibrio electrolítico, shock séptico e insuficiencia suprarrenal que conllevó a su deceso a pesar de las medidas terapéuticas establecidas. Se intenta exponer el desafío que representa el diagnóstico de PCM sistémica y promover su sospecha clínica para poder identificar la enfermedad de forma oportuna y evitar complicaciones que conduzcan a un desenlace fulminante.

Abstract Paracoccidioidomycosis (PCM) is an endemic fungal infection in Latin America characterized by multi-organ involvement. Late diagnosis and systemic dissemina tion favor complications such as respiratory failure and adrenal insufficiency, which determine the outcome of the patient. We present the case of a 51-year-old patient from the Colombian Pacific coast, immunocompetent with PCM spread to the central nervous system (CNS), lungs, and adrenal glands with a clinical debut of the neurological syndrome. During a hospital stay, he presented fever peak, hemodynamic collapse, severe metabolic acidosis, and hyperlactatemia. Blood culture and began broad-spectrum antimicrobial treatment with piperacillin-tazobactam (4.5 gr / IV every 8 hours), vancomycin (15 mg/kg) plus amphotericin B deoxycholate (1 mg/kg/day) and was transferred to the intensive care unit. Paracoccidioides spp multigene yeasts and chronic granulomatous inflammation were identified in adrenal tissue samples. Six days after admission, the patient continued with hemodynamic deterioration, electrolyte imbalance, septic shock, and adrenal insufficiency that led to death despite the established therapeutic measures. The aim is to expose the challenge posed by the diagnosis of systemic PCM and promote its clinical suspicion to identify the disease promptly and avoid complications that lead to a fulminant outcome.

Adrenalitis tuberculosa: a propósito de una actualización / Tuberculous adrenalitis: in regard to a recent update

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.