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      Enfermedad de Addison en una gemela de 19 meses Translated title: Addison’s disease in a 19 months old twin girl

      case-report

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          Abstract

          La enfermedad de Addison, o insuficiencia adrenal primaria, es una entidad en la cual la corteza adrenal secreta cantidades insuficientes de glucocorticoides, mineralocorticoides y andrógenos debido a un daño adrenal. Se presenta el caso de una niña de 19 meses con una historia de fatiga crónica, pérdida de peso, vómitos, hiporexia e hiperpigmentación en piel, labios y encías. Estos signos y síntomas tenían dos meses de evolución y empeoraron hasta que el diagnóstico correcto fue hecho y el tratamiento adecuado fue iniciado. Es una de las pacientes más jóvenes diagnosticada con enfermedad de Addison en Costa Rica, así como una edad de presentación temprana comparada con el promedio para esta patología. Se compara la paciente con su hermana gemela sana, de manera que los signos de la enfermedad son aún más evidentes y se presenta una revisión de la enfermedad de Addison como diagnóstico que debe estar presente en el diferencial de todo médico general.

          Translated abstract

          Addison’s disease or primary adrenal insufficiency is a clinical entity in which the adrenal cortex secretes insufficient amounts of glucocorticoids, mineralocorticoids and androgens due to an adrenal noxa. We report the case of a nineteen months old twin girl, who presented with a history of chronic fatigue, wasting, vomiting, hyporexia and hyperpigmentation in lips and gums. The symptoms continued for two months and worsened until the proper diagnosis was made and the treatment was established. This case represents one of the youngest patients diagnosed with Addison’s disease in our country, as well as an early age of presentation compared to the average age of diagnosis for this disease. We provide a comparison between the patient and her healthy twin sister, so the signs of the disease are even more evident.

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          Most cited references24

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          Adrenal insufficiency: still a cause of morbidity and death in childhood.

          Adrenal insufficiency is relatively rare in childhood and adolescence. Signs and symptoms may be nonspecific; therefore, the diagnosis may not be suspected early in the course. If unrecognized, adrenal insufficiency may present with life-threatening cardiovascular collapse. Adrenal crisis continues to occur in children with known primary or secondary adrenal insufficiency during intercurrent illness because of failure to increase glucocorticoid dosage. In this article, current knowledge of the incidence, diagnosis, and treatment of adrenal insufficiency in children and factors precipitating adrenal crisis are summarized. Suggestions for prevention of adrenal crisis in patients at risk are provided for health care professionals and families.
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            Diagnosis of adrenal insufficiency.

            The cosyntropin stimulation test is the initial endocrine evaluation of suspected primary or secondary adrenal insufficiency. To critically review the utility of the cosyntropin stimulation test for evaluating adrenal insufficiency. The MEDLINE database was searched from 1966 to 2002 for all English-language papers related to the diagnosis of adrenal insufficiency. Studies with fewer than 5 persons with primary or secondary adrenal insufficiency or with fewer than 10 persons as normal controls were excluded. For secondary adrenal insufficiency, only studies that stratified participants by integrated tests of adrenal function were included. Summary receiver-operating characteristic (ROC) curves were generated from all studies that provided sensitivity and specificity data for 250-microg and 1-microg cosyntropin tests; these curves were then compared by using area under the curve (AUC) methods. All estimated values are given with 95% CIs. At a specificity of 95%, sensitivities were 97%, 57%, and 61% for summary ROC curves in tests for primary adrenal insufficiency (250-microg cosyntropin test), secondary adrenal insufficiency (250-microg cosyntropin test), and secondary adrenal insufficiency (1-microg cosyntropin test), respectively. The area under the curve for primary adrenal insufficiency was significantly greater than the AUC for secondary adrenal insufficiency for the high-dose cosyntropin test (P 0.5) for secondary adrenal insufficiency. At a specificity of 95%, summary ROC analysis for the 250-microg cosyntropin test yielded a positive likelihood ratio of 11.5 (95% CI, 8.7 to 14.2) and a negative likelihood ratio of 0.45 (CI, 0.30 to 0.60) for the diagnosis of secondary adrenal insufficiency. Cortisol response to cosyntropin varies considerably among healthy persons. The cosyntropin test performs well in patients with primary adrenal insufficiency, but the lower sensitivity in patients with secondary adrenal insufficiency necessitates use of tests involving stimulation of the hypothalamus if the pretest probability is sufficiently high. The operating characteristics of the 250-microg and 1-microg cosyntropin tests are similar.
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              Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal.

              Primary adrenal insufficiency (PAI) in the pediatric population (0-18 yr) is most commonly attributed to congenital adrenal hyperplasia (CAH), which occurs in about 1 in 15,000 births, followed by Addison's disease, with an assumed autoimmune etiology. However, molecular advances have increased the number of possible diagnoses. The objective of this study was to determine the incidence and etiologies of PAI in our pediatric population. All patients with a diagnosis of PAI followed by the Endocrinology Service at our institution between September 1981 and September 2001 were studied. One hundred three patients (48 boys) were identified, primarily by the Endocrinology Clinic case registry. CAH was the most frequent etiology (71.8%). However, non-CAH etiologies accounted for 28.2%, of which 55% were nonautoimmune in etiology. Importantly, the CAH sex ratio was 1:1, despite the absence of biochemical screening for this condition in Quebec newborns. Patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia (APECED) developed adrenal insufficiency 4 yr earlier than those with non-autoimmune disease. Finally, we review the rare etiologies of PAI and propose an algorithm to aid in targeted genetic testing.
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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Journal
                apc
                Acta Pediátrica Costarricense
                Acta pediátr. costarric
                Asociación Costarricense de Pediatría (San José )
                1409-0090
                2009
                : 21
                : 1
                : 47-51
                Affiliations
                [1 ] Caja Costarricense de Seguro Social Costa Rica
                Article
                S1409-00902009000100007
                e02aecac-e0eb-4650-97fe-c51e1af94c7a

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Costa Rica

                Self URI (journal page): http://www.scielo.sa.cr/scielo.php?script=sci_serial&pid=1409-0090&lng=en

                hyperpigmentation,chronic fatigue,Enfermedad de Addison,insuficiencia adrenal primaria,población pediátrica,hiperpigmentación,fatiga crónica,Addison’s disease,primary adrenal insufficiency,children

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