Raras
Buscar doenças, sintomas, genes...
Doença de Addison
ORPHA:85138CID-10 · E27.1CID-11 · 5A74.0PCDT · SUSDOENÇA RARA

Produção baixa dos hormônios da camada externa das glândulas suprarrenais (também chamadas de adrenais). Isso ocorre porque o próprio sistema de defesa do corpo ataca e destrói essas glândulas.

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Introdução

O que você precisa saber de cara

📋

Produção baixa dos hormônios da camada externa das glândulas suprarrenais (também chamadas de adrenais). Isso ocorre porque o próprio sistema de defesa do corpo ataca e destrói essas glândulas.

Pesquisas ativas
3 ensaios
41 total registrados no ClinicalTrials.gov
Publicações científicas
397 artigos
Último publicado: 2026 Mar 24

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
12.5
Europe
Início
All ages
🏥
SUS: Cobertura mínimaScore: 30%
PCDT disponívelCID-10: E27.1
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
8 sintomas
🫘
Rins
6 sintomas
🫃
Digestivo
4 sintomas
🧬
Pele e cabelo
4 sintomas
🩸
Sangue
2 sintomas
🧠
Neurológico
1 sintomas

+ 27 sintomas em outras categorias

Características mais comuns

100%prev.
Insuficiência adrenal primária
100%prev.
Nível diminuído de cortisol circulante
90%prev.
Diarreia
Muito frequente (99-80%)
90%prev.
Constipação
Muito frequente (99-80%)
90%prev.
Perda de peso
Muito frequente (99-80%)
90%prev.
Hiperpigmentação da pele
Muito frequente (99-80%)
56sintomas
Muito frequente (15)
Frequente (17)
Ocasional (21)
Muito raro (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 56 características clínicas mais associadas, ordenadas por frequência.

Insuficiência adrenal primáriaPrimary adrenal insufficiency
Muito frequente100%
Nível diminuído de cortisol circulanteDecreased circulating cortisol level
Muito frequente100%
DiarreiaDiarrhea
Muito frequente (99-80%)90%
ConstipaçãoConstipation
Muito frequente (99-80%)90%
Perda de pesoWeight loss
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico397PubMed
Últimos 10 anos200publicações
Pico202356 papers
Linha do tempo
2026Hoje · 2026🧪 1982Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado2
3Fase 31
2Fase 23
·Pré-clínico14
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de Addison

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

41 ensaios clínicos encontrados, 3 ativos.

Distribuição por fase
NCT07413874 · Telehealth Music Therapy for Adults With Endocrine Disorder …Em breve
NA
NCT04252001 · Growing up With the Young Endocrine Support System (YESS!)Em breve
NA
NCT03210545 · A Study of Markers of Glucocorticoid Effects in Patients Wit…Concluído
PHASE4
NCT02096510 · Ultradian Subcutaneous Hydrocortisone Infusion in Addison Di…Concluído
PHASE1, PHASE2
NCT01840189 · Continuous Subcutaneous Hydrocortisone Infusion In Addison's…Encerrado
PHASE2
NCT05515055 · Does Relative Hypoglycaemia &/or Sleep Disturbance Contribut…UNKNOWN
NCT04374721 · Clinical Study on Circadian Genes Dysregulation in Patients …UNKNOWN
NA
NCT05350020 · The Effects of Two Brands of Hydrocortisone Injected Intramu…UNKNOWN
PHASE4
NCT02152553 · Biomarker(s) for GlucocorticoidsConcluído
NA
NCT04789993 · Additional Autoimmune Diseases With Type 1 Diabetes in Pedia…UNKNOWN
NCT03941184 · Spontaneous Coronary Artery Dissection (SCAD) and Autoimmuni…Concluído
NCT00251836 · Adrenal Function After Living Kidney DonationConcluído
NCT01452893 · Counterregulatory Hormone Production in Adrenal Insufficienc…Concluído
NCT01847690 · Effect of Cortisol on Physical Exertion in Patients With Pri…UNKNOWN
PHASE2
NCT01063569 · Glucocorticoid Treatment in Addison's DiseaseConcluído
PHASE2, PHASE3
NCT01657123 · Exercise Capacity and Recovery in Addison's DiseaseUNKNOWN
NA
NCT01271296 · Effects and Interactions of Liquorice and Grapefruit on Gluc…Concluído
NA
NCT00688987 · The Hypothalamic-Pituitary-Adrenal (HPA) Axis as an Effector…Concluído
NA
NCT00444119 · Survey in Patients With Chronic Adrenal Insufficiency in Ger…Concluído
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
181 papers (10 anos)
#1

GDF15 in Patients with Autoimmune Primary Adrenal Insufficiency.

International journal of molecular sciences2026 Feb 27

Growth differentiation factor 15 (GDF15) is a stress-response protein that conveys cellular distress signals to the brain and activates neural pathways leading to weight loss. GDF15 levels are increased in glucocorticoid deficiency; however, multiple factors may influence its levels in patients with primary adrenal insufficiency (PAI). The objective of this study was to determine circulating GDF15 levels in patients with PAI compared with a control group and to assess their associations with other clinical parameters. We included 37 patients (22 females) with autoimmune PAI and 47 healthy controls. Serum GDF15 levels, together with anthropometrical, hormonal and biochemical parameters, were assessed. Patients with PAI had significantly higher circulating GDF15 levels than controls did (1276.8 ± 952.1 vs. 682.8 ± 270.2 pg/mL, p < 0.001). In both groups, GDF15 levels were positively correlated with age (p < 0.001). In patients with PAI, GDF15 showed positive correlations with disease duration and duration of autoimmune thyroid disease, gonadotropin levels, waist-to-hip ratio, and body fat percentage, and negative correlations with DHEAS and sex hormone levels. In conclusion, GDF15 levels are increased in patients with PAI compared with healthy controls and correlate with age and the duration of autoimmune disease. The cosyntropin stimulation test is a dynamic endocrine test used to evaluate adrenal cortical function and assess the integrity of the hypothalamic–pituitary–adrenal (HPA) axis. Cosyntropin is a synthetic analog of adrenocorticotropic hormone (ACTH) that stimulates the adrenal cortex to produce cortisol. By measuring serum cortisol levels before and after cosyntropin administration, clinicians can determine whether the adrenal glands respond appropriately to ACTH stimulation. This test is most commonly used to evaluate suspected adrenal insufficiency, including primary adrenal insufficiency (Addison disease) and certain cases of secondary or tertiary adrenal insufficiency. The test is critical in differentiating causes of cortisol deficiency, supporting timely diagnosis, and guiding appropriate glucocorticoid replacement therapy to prevent adrenal crisis.

#2

Clinical features, investigation, and management of Addison's disease.

The lancet. Diabetes &amp; endocrinology2026 Mar

Addison's disease is the manifestation of adrenal glucocorticoid and mineralocorticoid deficiency from T-cell mediated destruction of the adrenal cortex, and is the commonest cause of primary adrenal insufficiency in adults. Due to its vague presentation, diagnosis of Addison's disease is often delayed, and in some cases, individuals present in adrenal crisis. Despite the use of corticosteroid replacement therapy, people with Addison's disease have increased mortality and reduced quality of life. Multiple features are thought to contribute to these outcomes, including inadequacy of adrenal crisis management and the inability of existing therapies to mimic circadian and ultradian rhythms of cortisol release. Current research strategies focus on understanding social and behavioural factors that contribute to adrenal crises, developing therapies that more closely mimic rhythms of physiological cortisol secretion, and developing interventions to restore adrenal steroidogenesis. This Review discusses the clinical features, investigation, and management of Addison's disease.

#3

Addison-like Clinical Phenotype Without Adrenal Insufficiency: A Rare Manifestation of Pernicious Anemia.

JCEM case reports2026 Feb

Severe vitamin B12 deficiency can clinically mimic Addison disease, with hyperpigmentation despite preserved adrenal function. We report a 34-year-old woman presenting with fatigue, an unintended weight loss of about 20 kg, and mucocutaneous hyperpigmentation raising concern for primary adrenal insufficiency. Examination showed pallor, mild scleral icterus, and elevated blood pressure. Laboratory testing demonstrated severe cobalamin deficiency with macrocytic anemia and biochemical evidence of intramedullary hemolysis, whereas morning cortisol and ACTH levels excluded adrenal failure. Intrinsic factor antibodies confirmed pernicious anemia. Notably, cancer antigen 15-3 was elevated at presentation but normalized after intramuscular vitamin B12 replacement, indicating a benign hematologic rather than oncologic etiology. Treatment triggered an appropriate reticulocyte response with subsequent hematologic recovery and gradual resolution of the hyperpigmentation. Pernicious anemia should be considered in the differential diagnosis of Addison-like pigmentation without adrenal insufficiency. Recognizing that tumor marker elevation may occur in severe megaloblastic anemia is essential to prevent unnecessary oncologic workup.

#4

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Medicine2026 Jan 16

Allgrove syndrome (AS), or "Triple A" syndrome, is a rare autosomal recessive disorder first described in 1978. It affects approximately 1 in a million individuals and is caused by mutations in the AAAS gene on chromosome 12q13. This gene encodes the ALADIN protein, essential for cellular function in various tissues. The syndrome is defined by a triad of clinical features: alacrima (absence of tears), achalasia (esophageal dysfunction), and adrenocorticotropic hormone-resistant adrenal insufficiency. Neurological involvement, including autonomic and peripheral neuropathies, is more commonly observed later in life, making early diagnosis challenging. A 4-year-old girl presented with vomiting, dysphagia, generalized weakness, alacrima, and skin hyperpigmentation. Addison disease was confirmed by elevated adrenocorticotropic hormone levels, and achalasia was diagnosed via a barium swallow test showing a bird's beak sign. Although treatment was initiated, surgery was initially delayed due to the patient's condition. Later, she developed seizures and neurological deterioration. Magnetic resonance imaging revealed cerebral atrophy, confirming the diagnosis of AS with neurological involvement. Treatment included medications targeting adrenal insufficiency and symptom management; however, there was no significant improvement in neurological symptoms or oral intake. Surgical intervention with Heller myotomy and gastrostomy led to improved feeding. AS can lead to serious complications, including life-threatening adrenal crises if undiagnosed. Early identification of glucocorticoid deficiency is vital to prevent mortality and long-term morbidity. Timely recognition and a multidisciplinary approach are essential. Regular follow-ups are necessary to manage neurological progression and support normal development in affected children.

#5

Severe Hyperpigmentation in the Emergency Department.

JCEM case reports2026 Jan

Cortisol, widely recognized as the principal stress hormone, exerts extensive influence over numerous physiological processes throughout the body. This hormone functions as the primary glucocorticoid synthesized and released by the zona fasciculata of the adrenal cortex. The hypothalamic-pituitary-adrenal (HPA) axis governs cortisol production and secretion, and disruption of this regulatory system results in cortisol excess disorders such as Cushing syndrome or deficiency states such as Addison disease (see Image. Hypothalamic-Pituitary-Adrenal Axis). Cortisol influences metabolism, immune activity, cardiovascular tone, and the stress response by modulating glucose availability, protein catabolism, lipolysis, and inflammatory signaling. Excessive cortisol exposure, such as in Cushing syndrome, produces central obesity, muscle wasting, hypertension, and glucose intolerance. Cortisol deficiency, such as in Addison disease, causes fatigue, hypotension, weight loss, and hyperpigmentation. Understanding cortisol physiology enables clinicians to recognize deviations from normal regulation, interpret diagnostic findings accurately, and design targeted therapeutic strategies for endocrine and systemic disorders involving the HPA axis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC134 artigos no totalmostrando 196

2026

GDF15 in Patients with Autoimmune Primary Adrenal Insufficiency.

International journal of molecular sciences
2026

Addison-like Clinical Phenotype Without Adrenal Insufficiency: A Rare Manifestation of Pernicious Anemia.

JCEM case reports
2026

Clinical features, investigation, and management of Addison's disease.

The lancet. Diabetes &amp; endocrinology
2026

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.

Medicine
2025

Co-existence of Myasthenia Gravis and Addison's Disease Without Thymoma: A Case Report.

Neuro endocrinology letters
2025

Adrenal insufficiency presenting with psychosis.

BMJ case reports
2025

Dizziness and orthostatic hypotension in a college student.

Journal of American college health : J of ACH
2026

Severe Hyperpigmentation in the Emergency Department.

JCEM case reports
2025

Primary adrenocortical insufficiency in patients with AIDS in Wuhan, China: 3 cases report and literature review.

BMC infectious diseases
2025

Inflammation-Mediated Lipid Metabolism in Endocrine Autoimmune Diseases: A Genetic Distance-Based PRS Approach Integrating HLA Region.

Genes
2026

Unmasking adrenal insufficiency: the overlooked role of gastrointestinal symptoms.

The American journal of medicine
2025

[A case report of delayed-onset diabetes mellitus complicated with primary adrenal insufficiency induced by immune checkpoint inhibitors].

Zhonghua nei ke za zhi
2025

A practical approach to diagnosis and treatment in children with primary adrenal insufficiency.

European journal of endocrinology
2025

The impact of age on the Na:K ratio: observations from a general canine population.

Frontiers in veterinary science
2026

Hypoglycaemia and other risks of ramadan fasting in patients with primary adrenal insufficiency: A prospective controlled trial using 24-hour glucose monitoring.

Journal of endocrinological investigation
2025

Rare causes of pediatric primary adrenal insufficiency: Data from a large nationwide Tunisian cohort.

Annales d'endocrinologie
2025

Glucocorticoid receptor polymorphisms and bone mineral density in patients receiving conventional glucocorticoid replacement.

Endokrynologia Polska
2025

A DESCRIPTION OF ADDISON'S DISEASE, AND ITS NEUROPSYCHIATRIC MANIFESTATIONS COMPARING THE DISEASE AS IT IS NOW TO THE DISEASE AS EXPERIENCED BY SAINT ELIZABETH OF THE TRINITY IN 1906.

Psychiatria Danubina
2025

An unusual case of remission of clinically overt autoimmune Addison's disease in a Pakistani girl.

Pakistan journal of medical sciences
2025

Increased mortality in primary adrenal insufficiency: a systematic review and meta-analysis.

European journal of endocrinology
2025

Genetic association and potential mediators between subjective well-being and cardiovascular events: A bidirectional two-sample, two-step Mendelian randomization study.

Medicine
2026

The mask of deficiency: A rare case of facial hyperpigmentation in vitamin B12 deficiency - a case report and review of literature.

Tropical doctor
2025

Unmasking Addison's Disease: A Case of Acute Adrenal Crisis.

The Journal of the Association of Physicians of India
2025

Mineralocorticoid effects of fludrocortisone and hydrocortisone in primary adrenal insufficiency: EU-AIR patient data.

Journal of endocrinological investigation
2025

[Two cases of X-linked adrenoleukodystrophy presenting with Addison's disease as the initial manifestation and analysis of novel ABCD1 variants].

Zhonghua nei ke za zhi
2025

Onset of Addison Disease in a Patient Using the Advanced Hybrid Closed-Loop MiniMed 780G: Diagnostic Challenges.

JCEM case reports
2025

Addison's disease due to adrenal insufficiency in an immunocompetent patient with disseminated cryptococcosis. Case report.

Revista peruana de medicina experimental y salud publica
2025

The Relationship Between Sleep, Fatigue and Quality of Life in Young Adults With Autoimmune Addison's Disease.

Clinical endocrinology
2025

An Intriguing Case Report of Type 2 Autoimmune Polyendocrine Syndrome Post-SARS-CoV-2: Cause or Coincidence?

Endocrine, metabolic &amp; immune disorders drug targets
2025

[A rare case of autoimmune polyglandular syndrome type 2 in an elderly patient].

Medicina
2025

Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening.

BMJ case reports
2025

Psychotropic drug use in patients with autoimmune Addison's disease: a Swedish population-based cohort study.

European journal of endocrinology
2025

Adrenal crisis: incidence, clinical presentation and risk factors in patients with Addison's disease.

Endocrine
2025

Severe cutaneous adverse reactions and risk of autoimmune disease, including psoriasis and inflammatory bowel disease: a cohort study.

Clinical and experimental dermatology
2025

Identifying Knowledge Gaps in Individuals With Primary Adrenal Insufficiency: A Critical Step in Preventing Adrenal Crisis.

Clinical endocrinology
2025

Female fertility and pregnancy in autoimmune Addison's disease - a mini review.

Frontiers in endocrinology
2025

Two Hurt More Than One: Severe Hyponatraemia and Rhabdomyolysis as Presenting Features of Addison's Disease.

Acta medica (Hradec Kralove)
2025

Prevalence of Various Systemic and Organ-Specific Autoimmune Markers in Addison's Disease Patients Compared to Healthy Controls.

Journal of clinical medicine
2025

Primary adrenal insufficiency and systemic tuberculosis in a 10-year-old boy: case report.

Revista peruana de medicina experimental y salud publica
2025

[Hypoglycaemic ketoacidosis - an endocrine emergency].

Deutsche medizinische Wochenschrift (1946)
2025

[Adrenal Insufficiency: Etiology and Characterization of Patients Attended at a University Center].

Revista medica de Chile
2025

Eating Disorder vs Addison's Disease: A Case Report and Review of the Published Case Reports.

Actas espanolas de psiquiatria
2025

[Xp21 contiguous gene deletion syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations.

European journal of endocrinology
2025

Primary adrenal insufficiency in patients with CPOX gene mutations.

European journal of endocrinology
2025

Autoimmune Primary Adrenal Insufficiency: Understanding the Past, Present, and Future.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
2025

Case Report: Primary adrenal insufficiency due to bilateral adrenal infarction and antiphospholipid syndrome in Covid19 - A complicate case of cardiogenic shock.

Frontiers in endocrinology
2025

Increased risk of osteoporotic fractures and osteoporosis in patients with Addison's disease in Sweden: A nationwide population-based cohort study.

Journal of internal medicine
2025

Pregnancy Outcomes in Women With Primary Adrenal Insufficiency: Data From a Multicentre Cohort Study.

BJOG : an international journal of obstetrics and gynaecology
2025

Changes in Adrenal Function and Insufficiency Symptoms After Cessation of Prednisolone.

JAMA network open
2025

Progressive Disseminated Histoplasmosis with Primary Adrenal Insufficiency in Immunocompetent Person: A Case Report.

The Journal of the Association of Physicians of India
2025

Pregnancy-Induced Hypertension and Association With Future Autoimmune Diseases.

Obstetrics and gynecology
2025

Income and work loss in patients with Addison's disease: a nationwide population-based study.

European journal of endocrinology
2025

Anti-perilipin-1 autoantibodies in autoimmune Addison's disease and related endocrine disorders.

Autoimmunity
2025

Subject-Specific Dosage Estimation for Primary Hypothyroidism Using Sparse Data.

Journal of computational biology : a journal of computational molecular cell biology
2025

Challenges of diagnosing and managing Addison's disease in a resource-limited setting.

BMJ case reports
2025

Adrenal Insufficiency Due to Adrenal Insult Following Acute Pancreatitis in a Child.

JCEM case reports
2025

Dual-release hydrocortisone treatment improves serum and peripheral blood mononuclear cell inflammatory and immune profiles in patients with autoimmune primary adrenal insufficiency.

Frontiers in immunology
2025

Insights in non-CAH pediatric primary adrenal insufficiency: a single-center experience from India.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Molecular genetics &amp; genomic medicine
2025

[Addison's disease: looking to the past and the future].

Revue medicale de Liege
2025

The Causes and Diagnosis of Non-congenital Adrenal Hyperplasia Primary Adrenal Insufficiency in Children.

Journal of clinical research in pediatric endocrinology
2024

Primary adrenal insufficiency: case study IN 5 tertiary hospitals.

Anales de pediatria
2024

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

PloS one
2024

Circulatory collapse requiring mechanical circulatory support in a child with autoimmune adrenal insufficiency: a case report.

BMC pediatrics
2024

A Rare Presentation of a Common Disease: A Case Report.

The Journal of the Association of Physicians of India
2024

The multiple faces of autoimmune Addison's disease in children.

Frontiers in endocrinology
2024

Brain activity during working memory in patients with autoimmune Addison's disease.

Psychoneuroendocrinology
2024

Hypoadrenocorticism in cats: a 40-year update.

Journal of feline medicine and surgery
2024

Schmidt´s syndrome found by tan: a case report.

The Pan African medical journal
2024

Primary adrenal insufficiency with normal male external genitalia in a boy with CYP11A1 deficiency.

BMJ case reports
2024

Increased prevalence of negative pregnancy and fetal outcomes in women with primary adrenal insufficiency. A systematic review and meta-analysis.

Endocrine
2024

Primary adrenal insufficiency in adults: When to suspect, how to diagnose and manage.

Cleveland Clinic journal of medicine
2024

Primary hyperaldosteronism associated with type 3 autoimmune polyendocrine syndrome: A rare case report.

Clinical case reports
2025

Diagnostic Role of Tomography in Addison's Disease due to Adrenal Tuberculosis: A Case Report.

Endocrine, metabolic &amp; immune disorders drug targets
2024

Stokes-Adams Syndrome as a Presenting Feature of Hypoadrenalism: A Rare Presentation.

Annals of African medicine
2024

Dermatological Conundrum: Puzzling Pigmentation in Vitamin B12 Deficiency and Addison's Disease.

The Journal of the Association of Physicians of India
2024

Easily misdiagnosed X-linked adrenoleukodystrophy.

Italian journal of pediatrics
2024

Immune Checkpoint Inhibitors-Induced Endocrinopathies: Assessment, Management and Monitoring in a Comprehensive Cancer Centre.

Endocrinology, diabetes &amp; metabolism
2024

Secondary adrenocortical insufficiency after treatment with retifanlimab: a case report.

Frontiers in immunology
2025

Cardiac tamponade - a rare cause of sudden death in autoimmune polyglandular syndrome.

Forensic science, medicine, and pathology
2024

Primary adrenal insufficiency due to lymphomatoid granulomatosis in a 32-year-old man.

Lancet (London, England)
2024

Autoimmune polyglandular syndrome with shock and high anion gap metabolic acidosis.

The American journal of the medical sciences
2023

Adherence to glucocorticoid replacement therapy in Addison's disease: Association with patients' disease knowledge and quality of life.

Endocrinologia, diabetes y nutricion
2024

Disseminated tuberculosis in PLWHIV presenting as primary adrenal insufficiency.

BMJ case reports
2024

Primary adrenal insufficiency developed 22 years after the diagnosis of light and heavy chain deposition disease: a case report.

CEN case reports
2024

Addison's disease in metastatic neuroendocrine prostate cancer.

Endocrinologia, diabetes y nutricion
2024

Toxic Epidermal Necrolysis Secondary to Iodine Versus Methimazole in a Pediatric Patient With Complex Autoimmune Disease.

Cureus
2024

Excessive pickle consumption: beware of adrenal crisis.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
2024

Monitoring adrenal insufficiency through salivary steroids: a pilot study.

European journal of endocrinology
2024

[Diagnosis and etiology of primary adrenal insufficiency].

Revue medicale suisse
2024

Rare copy number variation in autoimmune Addison's disease.

Frontiers in immunology
2024

Assessment of bidirectional relationships between autoimmune diseases and primary ovarian insufficiency: insights from a bidirectional two-sample Mendelian randomization analysis.

Archives of gynecology and obstetrics
2024

Adrenal Hemorrhage: A Comprehensive Analysis of a Heterogeneous Entity-Etiology, Presentation, Management, and Outcomes.

Mayo Clinic proceedings
2024

Challenges and pitfalls in the management of endocrine toxicities from immune checkpoint inhibitors: a case presentation of synchronous thyrotoxicosis and primary adrenal insufficiency in a melanoma patient.

Hormones (Athens, Greece)
2024

Follow up of a rare case of adrenal insufficiency due to NNT mutation.

BMJ case reports
2024

Hyperpigmentation at diabetes technology sites may be indicative of evolving Addison's disease.

Archives of disease in childhood
2024

Predictors of bone mineral density in patients receiving glucocorticoid replacement for Addison's disease.

Endocrine
2024

Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants.

European journal of endocrinology
2024

Clinical presentation and outcomes in patients with antiphospholipid syndrome-associated adrenal hemorrhage. A multicenter cohort study and systematic literature review.

Clinical immunology (Orlando, Fla.)
2024

Posaconazole-induced primary adrenal insufficiency: A rare but real risk.

Annales d'endocrinologie
2024

[Case Report of a 14-Year-Old Girl with Addison's Disease Under Initial Presumptive Diagnosis of Anorexia Nervosa: Confusingly Similar and Yet so Different?].

Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie
2023

Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.

Frontiers in endocrinology
2023

Primary adrenal insufficiency induced by immune checkpoint inhibitors: biological, clinical, and radiological aspects.

Seminars in oncology
2023

Primary Adrenal Insufficiency due to Cryptococcus With Persistent Adrenal Enlargement and Insufficiency.

AACE clinical case reports
2023

Major immunophenotypic abnormalities in patients with primary adrenal insufficiency of different etiology.

Frontiers in immunology
2023

X-linked adrenoleukodystrophy and primary adrenal insufficiency.

Frontiers in endocrinology
2023

Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives.

Frontiers in endocrinology
2023

Predisposing factors for adrenal crisis in chronic adrenal insufficiency: a case-control study.

European journal of endocrinology
2024

On Primary Adrenal Insufficiency with Normal Concentrations of Cortisol - Early Manifestation of Addison's Disease.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2024

Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.

The British journal of dermatology
2023

A case-control survey study of environmental risk factors for primary hypoadrenocorticism in dogs.

Journal of veterinary internal medicine
2024

Morbidity in Patients with Chronic Adrenal Insufficiency - Cardiovascular Risk Factors and Hospitalization Rate Compared to Population Based Controls.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2024

Increased Resting-State Functional Connectivity in Patients With Autoimmune Addison Disease.

The Journal of clinical endocrinology and metabolism
2023

Altered biomarkers for cardiovascular disease and inflammation in autoimmune Addison's disease - a cross-sectional study.

European journal of endocrinology
2023

Bone safety of dual-release hydrocortisone in patients with autoimmune primary adrenal insufficiency.

Frontiers in endocrinology
2024

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

The Journal of clinical endocrinology and metabolism
2023

A Patient with Addison Disease (Primary Adrenal Insufficiency) Presenting for Surgical Extraction of Third Molars.

Dental clinics of North America
2023

A First Presentation of Autoimmune Primary Adrenal Insufficiency.

The American journal of medicine
2024

Autoimmune Addison's disease in the preclinical period mimics malignancy on 18F-FDG PET/CT.

Annales d'endocrinologie
2023

Simultaneous diagnosis of primary adrenal insufficiency and Type 1 diabetes mellitus.

Journal of paediatrics and child health
2023

Melanonychia with pseudo-Hutchinson sign may assist in diagnosis of Addison's disease.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)
2023

Serological Screening for Celiac Disease and Gastrointestinal Absorption Disorders in Patients with Autoimmune Endocrine Diseases.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2023

Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.

Journal of medical genetics
2024

Regulatory T cells in autoimmune primary adrenal insufficiency.

Clinical and experimental immunology
2023

Primary Adrenal Insufficiency Masked by an Eating Disorder Diagnosis in an Adolescent Male.

JCEM case reports
2023

A "Grasp Heart" Situation: Managing Heart Failure with Reduced Ejection Fraction in Primary Adrenal Insufficiency.

Arquivos brasileiros de cardiologia
2023

Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.

European journal of endocrinology
2023

Autoimmune adrenal insufficiency in children: a hint for polyglandular syndrome type 2?

Italian journal of pediatrics
2023

Approach to the Patient: Diagnosis of Primary Adrenal Insufficiency in Adults.

The Journal of clinical endocrinology and metabolism
2023

Primary adrenal insufficiency due to bilateral adrenal hemorrhage-adrenal infarction in a patient with systemic lupus erythematosus and antiphospholipid syndrome: case presentation and review of the literature.

Hormones (Athens, Greece)
2023

Association of vitiligo with multiple cutaneous and extra-cutaneous autoimmune diseases: a nationwide cross-sectional study.

Archives of dermatological research
2024

A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.

Annales d'endocrinologie
2023

Addison's Disease: Diagnosis and Management Strategies.

International journal of general medicine
2023

An unusual cause of adrenal insufficiency with elevation of 17-hydroxyprogesterone: case report.

BMC endocrine disorders
2023

Testicular adrenal rest tumors in Addison's disease.

Endocrinologia, diabetes y nutricion
2023

Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study.

The Journal of clinical endocrinology and metabolism
2023

Acute Mania in a Patient With Primary Adrenal Insufficiency Due to Autoimmune Adrenalitis: A Case Report.

Journal of psychiatric practice
2023

Pulsatile Subcutaneous Hydrocortisone Replacement in Primary Adrenal Insufficiency.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2023

A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.

Journal of internal medicine
2023

Adrenal insufficiency after curative-intent gastric cancer treatment: a case report.

Journal of medical case reports
2023

Acute Mania and Psychosis in the Context of Primary Adrenal Insufficiency: A Systematic Review of the Literature.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
2023

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.

International journal of molecular sciences
2023

Steroid supplementation before minor oral surgical procedures in patients taking long-term glucocorticoids: A triple-blinded, randomized, placebo-controlled trial.

Journal of the American Dental Association (1939)
2023

Diagnosis and management of adrenal insufficiency.

Clinical medicine (London, England)
2023

Complete heart block revealing adrenal tuberculosis.

Radiology case reports
2023

An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2023

Sex-disease dimorphism underpins enhanced motion sickness susceptibility in primary adrenal insufficiency: a cross-sectional observational study.

Experimental brain research
2023

Acute Diarrhea Isn't Always Infectious: An Atypical Presentation of Adrenal Insufficiency.

Journal of community hospital internal medicine perspectives
2023

Clinical features and long-term management of cats with primary hypoadrenocorticism using desoxycorticosterone pivalate and prednisolone.

Journal of veterinary internal medicine
2023

Effects of the therapy shift from cortisone acetate to modified-release hydrocortisone in a group of patients with adrenal insufficiency.

Frontiers in endocrinology
2023

Self-management and hospitalization in 615 Swedish patients with Addison's disease during the coronavirus disease 2019 pandemic: a retrospective study.

European journal of endocrinology
2023

Coronary artery disease in a patient with Addison's disease: a case report and literature review.

BMC cardiovascular disorders
2022

Addison's Disease in the Course of Recurrent Microangiopathic Antiphospholipid Syndrome-A Clinical Presentation and Review of the Literature.

Medicina (Kaunas, Lithuania)
2023

Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison's disease cohort.

European journal of endocrinology
2023

Adrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.

Hormone research in paediatrics
2023

Future Directions for Adrenal Insufficiency: Cellular Transplantation and Genetic Therapies.

The Journal of clinical endocrinology and metabolism
2023

Type 3 autoimmune polyglandular syndrome (APS-3) or type 3 multiple autoimmune syndrome (MAS-3): an expanding galaxy.

Journal of endocrinological investigation
2022

Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency.

BMJ case reports
2022

Newly diagnosed autoimmune Addison's disease in a patient with COVID-19 with autoimmune disseminated encephalomyelitis.

BMJ case reports
2022

Primary adrenal insufficiency and myocarditis in COVID-19 disease: a case report.

BMC endocrine disorders
2022

[Hyperpigmentation reveals Addison's disease in a pregnant woman].

Ugeskrift for laeger
2022

Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene.

Scientific reports
2022

Extreme Hyponatremia Complicated by Osmotic Demyelination in a Previously Healthy Young Individual.

Canadian journal of kidney health and disease
2023

Addison's disease without hyperpigmentation in pediatrics: pointing towards specific causes.

Hormones (Athens, Greece)
2022

Commentary on An Unusual Presentation of Autoimmune Primary Adrenal Insufficiency.

Clinical chemistry
2022

An Unusual Presentation of Autoimmune Primary Adrenal Insufficiency.

Clinical chemistry
2023

Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology.

Endocrine
2022

Clinical manifestations and associated factors in acquired hypoaldosteronism in endocrinological practice.

Frontiers in endocrinology
2022

Addison's disease triggered by infection with mycobacterium abscessus, but not by adrenal tuberculosis or MAC pulmonary disease, in a subject with type 2 diabetes mellitus: case report.

BMC endocrine disorders
2022

Repeatability assessment of sodium (23Na) MRI at 7.0 T in healthy human calf muscle and preliminary results on tissue sodium concentrations in subjects with Addison's disease.

BMC musculoskeletal disorders
2023

Brain structure in autoimmune Addison's disease.

Cerebral cortex (New York, N.Y. : 1991)
2022

Broad Complex Tachycardia, Addison's disease, and Ascending Flacid Paralysis: An Interesting Case on Cardiology Floor.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
2022

Primary adrenal insufficiency masking as an adrenal B-cell lymphoma.

BMJ case reports
2022

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden.

Diagnostics (Basel, Switzerland)
2023

Intractable vomiting as a presentation of adrenal insufficiency - a case report.

Tropical doctor
2022

High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.

Molecular genetics and metabolism reports
2022

Hyperpigmentation as a clue to Addison disease.

Cleveland Clinic journal of medicine
2022

The short synacthen test: Variations in methodology and protocols in KSA.

Journal of Taibah University Medical Sciences
2023

Hyponatremia in a patient with diabetic ketosis: Answers.

Pediatric nephrology (Berlin, Germany)
2022

Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophy.

BMJ case reports
2023

History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.

Endocrine reviews
2023

Renin and electrolytes indicate the mineralocorticoid activity of fludrocortisone: a 6 year study in primary adrenal insufficiency.

Journal of endocrinological investigation
2022

GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.

BMC pediatrics
2022

Long-term outcomes of conventional and novel steroid replacement therapy on bone health in primary adrenal insufficiency.

Scientific reports
2022

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].

Andes pediatrica : revista Chilena de pediatria
2022

Non-invasive assessment of tissue sodium content in patients with primary adrenal insufficiency.

European journal of endocrinology
2022

Primary adrenal insufficiency in a patient with biallelic QRSL1 mutations.

European journal of endocrinology
2022

Routine Screening for Central and Primary Adrenal Insufficiency during Immune-Checkpoint Inhibitor Therapy: An Endocrinology Perspective for Oncologists.

Current oncology (Toronto, Ont.)
2022

Lacrimo-auriculo-dento-digital syndrome with AIRE mutation: A case report.

Journal of stomatology, oral and maxillofacial surgery
2022

Immune checkpoint inhibitor-associated new-onset primary adrenal insufficiency: a retrospective analysis using the FAERS.

Journal of endocrinological investigation
2022

Impact of hydrocortisone replacement on bone mineral density and bone turnover markers in patients with primary adrenal insufficiency.

Endocrine regulations
2022

Adrenal hemorrhage following direct oral anticoagulant (DOAC) therapy: two case reports and literature review.

Thrombosis journal
2022

Bilateral Primary Adrenal B-Cell Lymphoma Diagnosed by Workup for Primary Adrenal Deficiency.

The Gulf journal of oncology
2022

The Staunton case revisited.

The Medico-legal journal
2022

Clinical Profile of Addison's Disease in a Tertiary Care Institute, Southern India - The Changing Landscape.

Indian journal of endocrinology and metabolism

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. GDF15 in Patients with Autoimmune Primary Adrenal Insufficiency.
    International journal of molecular sciences· 2026· PMID 41828483mais citado
  2. Clinical features, investigation, and management of Addison's disease.
    The lancet. Diabetes &amp; endocrinology· 2026· PMID 41587556mais citado
  3. Addison-like Clinical Phenotype Without Adrenal Insufficiency: A Rare Manifestation of Pernicious Anemia.
    JCEM case reports· 2026· PMID 41607588mais citado
  4. Allgrove syndrome with early neurodegeneration in a child: A case report from Syria.
    Medicine· 2026· PMID 41560097mais citado
  5. Severe Hyperpigmentation in the Emergency Department.
    JCEM case reports· 2026· PMID 41347114mais citado
  6. Between Crisis and Clarity: Steroid-Induced Psychosis in Addison Disease.
    Prim Care Companion CNS Disord· 2026· PMID 41894670recente
  7. Adrenocorticotropic Hormone (Cosyntropin) Stimulation Test.
    · 2026· PMID 32310400recente
  8. Dizziness and orthostatic hypotension in a college student.
    J Am Coll Health· 2025· PMID 41405598recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:85138(Orphanet)
  2. MONDO:0100480(MONDO)
  3. Insuficiencia Adrenal Primaria — Doenca de Addison(PCDT · Ministério da Saúde)
  4. GARD:5740(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q8282(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de Addison
Compêndio · Raras BR

Doença de Addison

ORPHA:85138 · MONDO:0100480
🇧🇷 Brasil SUS
Geral
Prevalência
1-5 / 10 000
Herança
Not applicable
CID-10
E27.1 · Insuficiência adrenocortical primária
CID-11
Ensaios
3 ativos
Início
All ages
Prevalência
12.5 (Europe)
MedGen
UMLS
C0405580
EuropePMC
Wikidata
Wikipedia
Papers 10a
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