Forma de síndrome de Cushing dependente do hormônio adrenocorticotrófico (ACTH), uma síndrome de Cushing endógena (SC), caracterizada por secreção excessiva crônica de hormônio adrenocorticotrófico (ACTH) devido a um adenoma corticotrófico hipofisário.
Introdução
O que você precisa saber de cara
Forma de síndrome de Cushing dependente do hormônio adrenocorticotrófico (ACTH), uma síndrome de Cushing endógena (SC), caracterizada por secreção excessiva crônica de hormônio adrenocorticotrófico (ACTH) devido a um adenoma corticotrófico hipofisário.
Escala de raridade
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1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 33 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 79 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
8 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for norma
Cell membrane
Usher syndrome 1D
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation
Mitochondrion matrixNucleus
Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of polyubiquitin precursors as well as that of ubiquitinated proteins (PubMed:16214042, PubMed:34059922). Plays a role in the regulation of NF-kappa-B activation by TNF receptor superfamily via its interactions with RELA and TRAF2. May also play a regulatory role at postsynaptic sites. Plays an important role in cell cycle progression by deubiquitinating Aurora B/AURKB an
CytoplasmNucleusCell projection, cilium
Deafness, autosomal dominant, 85
A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA85 is characterized by progressive hearing loss, with onset in childhood or young adulthood.
Receptor for glucocorticoids (GC) (PubMed:27120390, PubMed:37478846). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mitochondrial DNA, and as a modulator of other transcription factors (PubMed:28139699). Affects inflammatory responses, cellular proliferation and differentiation in target tissues. Involved in chromatin remodeling (PubMed:9590696). Plays a role in rapid mRNA degradation by binding to the 5' UTR of ta
CytoplasmNucleusMitochondrionCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, microtubule organizing center, centrosomeChromosomeNucleus, nucleoplasm
Glucocorticoid resistance, generalized
An autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of Cushing syndrome typical signs. Clinical features include hypoglycemia, hypertension, metabolic alkalosis, chronic fatigue and profound anxiety.
Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling
NucleusChromosome, telomereNucleus, PML body
Alpha-thalassemia/impaired intellectual development syndrome, X-linked
A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.
Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway (PubMed:21441910, PubMed:29433126). Phosphorylates PFKFB2 (PubMed:36402789). May play a role in the postsynaptic responses of hippocampal neurons (PubMed:1508179)
NucleusCytoplasmCell membrane
Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492, PubMed:24652652, PubMed:35618207, PubMed:36634798, PubMed:38653238, PubMed:9840937). Acts as a tumor suppressor in many tumor types; induces growth arrest or apop
CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates t
CytoplasmNucleusEndosome membraneCell membrane
Pituitary adenoma 4, ACTH-secreting
A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
Variantes genéticas (ClinVar)
1,362 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
66 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença Cushing
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 638
Neutralization of acyl-CoA-binding protein attenuates glucocorticoid-mediated suppression of cancer immunosurveillance.
Glucocorticoids (GCs) are potent immunosuppressive agents that compromise anticancer immune responses, yet the molecular mediators of this effect remain incompletely understood. Here, we identify the acyl-CoA-binding protein/diazepam-binding inhibitor (ACBP/DBI) as a critical effector of the GC-induced suppression of tumor immunosurveillance and immunotherapy efficacy. Using orthotopic murine models of breast cancer, non-small cell lung cancer, and cutaneous fibrosarcoma, we show that corticosterone (CORT) accelerates tumor progression and abrogates therapeutic responses to immunogenic chemotherapy and PD-1 blockade. Genetic ablation or monoclonal antibody (mAb)-mediated neutralization of ACBP/DBI prevents immunosuppression by CORT, restoring both natural and therapy-enhanced antitumor immunity in a T cell-dependent manner. Mechanistically, CORT induces Tsc22d3 expression in dendritic cells, impairs type I interferon signaling, and reduces antigen presentation capacity, which all can be reversed by ACBP/DBI neutralization. The immunosuppressive activity of GCs and the immunostimulatory function of anti-ACBP/DBI mAb converge on Tsc22d3 expression in myeloid cells, as shown by loss-of-function experiments in myeloid-specific Tsc22d3-deficient mice. These findings reveal ACBP/DBI as a central mediator of GC-induced immune evasion and suggest its neutralization as a therapeutic strategy to restore anticancer immunity during endogenous or iatrogenic GC exposure.
Body Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.
To compare body composition and fat distribution in children with Cushing disease (CD) with body mass index (BMI)-matched peers with obesity and evaluate associations with cardiometabolic risk factors (CRFs). In a retrospective cohort study, we compared 23 pediatric patients with active CD and 46 age-, sex-, and BMI z-score-similar controls. Anthropometric measurements, fasting biochemistry, and whole-body dual-energy X-ray absorptiometry had already been performed. Patients with CD had a greater percentage of total body fat than their BMI-similar controls (47.8% [SD 7.8] in female patients with CD vs 40.0% [SD 10.1] in control patients, P = .016; 46.6% [SD 8.5] in male patients with CD vs 38.3% [SD 9.9] in control patients, P = .019). However, fat distribution, assessed by proportions of fat between the trunk and the limbs, did not differ significantly between the 2 groups, suggesting that a more central obesity phenotype is not clearly identified in this pediatric CD group. In control patients, CRFs showed strong correlations with BMI and markers of fat deposition and distribution, yet in patients with CD, CRFs showed variable correlations with certain factors associating only with markers of fat deposition and distribution rather than BMI. Pediatric patients with CD have greater adiposity and reduced lean and bone mass compared with BMI-similar peers, despite similar fat distribution. BMI underestimates fat burden in patients with CD and measures derived from dual-energy X-ray absorptiometry may better reflect metabolic risk. Comprehensive body composition assessment should be considered in pediatric patients with CD for risk stratification and management. ClinicalTrials.gov ID: NCT00001595; NCT00001723; NCT00001522.
Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.
Cushing syndrome is a disorder of endogenous hypercortisolism characterized by increased morbidity and mortality; when surgery is not curative or feasible, medical therapies targeting pituitary adrenocorticotropic hormone or adrenal cortisol production are essential. We report a case of early-onset hypocortisolism and sustained remission following a brief osilodrostat therapy in a 70-year-old woman with Cushing disease who had been treated for many years with pasireotide and metyrapone. Ten days after initiating osilodrostat, she developed clinical signs of adrenal insufficiency and a low morning serum cortisol of 2.8 µg/dL (SI: 76 nmol/L) (reference range 7-25 µg/dL [SI: 193-690 nmol/L]); osilodrostat was discontinued, and glucocorticoid replacement was initiated, remaining glucocorticoid-replacement dependent at low doses for 2 months. Over subsequent follow-up of over 20 months, her 24-hour urinary free cortisol normalized, and she maintained persistent biochemical and clinical eucortisolism off all Cushing therapy, with no relapse of hypercortisolism. She also experienced weight loss of 16.5 kg and marked improvement in diabetes control, enabling discontinuation of insulin and glucagon-like peptide-1 (GLP-1) receptor agonist therapy. This is among the earliest documented cases of osilodrostat-induced hypocortisolism with long sustained hormonal remission after treatment discontinuation, emphasizing the need for early monitoring and prolonged follow-up.
Cushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.
Cushing's disease (CD) and autoimmune thyroid diseases (AITDs) are two distinct but interconnected endocrinopathies affecting predominantly women. A primary cause of CD is excess adrenocorticotropic hormone (ACTH) secretion, which leads to hypercortisolism and profound hormonal and immune changes. As with AITDs, Hashimoto's thyroiditis and Graves' disease are caused by a loss of immune tolerance and frequently coexist with female reproductive dysfunction. Emerging evidence suggests that chronic hypercortisolism in CD suppresses immunity as well as alters hypothalamic-pituitary-thyroid (HPT) axis activity, which may mask or exacerbate thyroid autoimmunity after disease remission. Coexisting CD and AITD has significant effects on women's reproductive health, pregnancy outcomes, and menopausal transitions, as thyroid and adrenal hormones play a crucial role in regulating ovulatory cycles, placental development, bone formation, and cardiovascular health. In this review, shared pathophysiological pathways are explored, clinical and therapeutic challenges are highlighted, and integrated management strategies are discussed. To improve early diagnosis, tailor treatment approaches, and guide future endocrine research, it is essential to understand the compounded risks of dual endocrinopathy.
Osilodrostat for the treatment of Cushing syndrome: an update.
Cushing syndrome (CS) is a complex endocrine disorder with multifactorial pathophysiology and diverse comorbidities. Long-term biochemical and clinical control of CS remains challenging. Osilodrostat, a potent oral 11β-hydroxylase inhibitor, has become as a valuable treatment option. This review summarizes current clinical and real-world evidence on the efficacy and safety of osilodrostat in CS, and outlines practical considerations such as dose titration, monitoring, and management of adverse events, along with future directions for optimizing its use. Osilodrostat is an effective and well-tolerated therapy that leads to significant reductions in cortisol secretion and improves metabolic, cardiovascular, and psychological outcomes in patients with CS. Real-world studies support its efficacy across different forms and severities of endogenous hypercortisolism.
Publicações recentes
Vertebral fractures may occur early in the history of Cushing disease associating with male gender and degree of cortisol secretion.
Late recurrence of Cushing disease with ubiquitin-specific protease 8 mutation 19 years after initial surgery.
The Modern Presentation, Etiology, and Rate of Occurrence of Cushing Syndrome Differs when Compared to Prior Population-Based Studies.
Symptom management with osilodrostat in multiple endocrine neoplasia type 1 with a Cushing syndrome presentation.
Persistent remission after steroidogenesis inhibitor discontinuation in Cushing disease: a case series.
📚 EuropePMC728 artigos no totalmostrando 196
Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.
JCEM case reportsCushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.
Journal of reproductive immunologySex differences in the clinical presentation, management and long-term outcomes of pituitary tumors in children and adolescents.
PituitaryNeutralization of acyl-CoA-binding protein attenuates glucocorticoid-mediated suppression of cancer immunosurveillance.
Proceedings of the National Academy of Sciences of the United States of AmericaOsilodrostat for the treatment of Cushing syndrome: an update.
Expert review of endocrinology & metabolismCushing disease caused by ectopic sphenoid pituitary macroadenoma: a major interdisciplinary challenge in everyday clinical practice.
Polish archives of internal medicineEarly postoperative LDDST enhances remission prediction beyond morning cortisol in cushing's disease.
PituitaryPrediction of remission in cushing's disease using artificial intelligence: A systematic review and meta-analysis.
Neurosurgical reviewOsilodrostat for Cyclic Cushing Disease.
AACE endocrinology and diabetesCavernous Sinus Medial Wall Resection: A Retrospective Single-Institution Study on Outcomes in Functional Pituitary Adenomas.
Operative neurosurgery (Hagerstown, Md.)Safety and Effectiveness of Rivaroxaban Thromboprophylaxis in ACTH-dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismSpectrum of Osteoporosis Etiologies with Associated Vertebral Compression Fractures in Children: Analysis of 11 Cases.
Journal of clinical medicine[Pheochromocytoma or Cushing's syndrome? About one case].
Annales de biologie cliniqueGlucocorticoid-Induced Positive Feedback in Cushing Disease: Insights From a Spanish Multicenter Cohort.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsThe surgical management of Cushing disease: a case series from a Canadian tertiary center.
Neurological researchCrooke Cell Adenoma Presenting With Refractory Hypokalemia and Uncontrolled Hypertension.
JCEM case reportsMulticenter 30-Year Data on the 4-Mg Intravenous Dexamethasone Suppression Test in the Diagnosis of Cushing Syndrome.
Journal of the Endocrine SocietyDisease Remission and Surgical Outcomes of Endoscopic Transsphenoidal Surgery for Cushing Disease: A Single Center Experience.
World neurosurgeryBody Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.
The Journal of pediatricsDual Hormonal Presentation in a Rare Sellar Gangliocytoma: Diagnostic and Pathological Insights from a Collision Tumor.
Journal of neurological surgery reportsA Case of Adrenocorticotropin-dependent Cushing Syndrome with Osilodrostat Exposure in Early Pregnancy.
JCEM case reportsReal-world osilodrostat effectiveness and safety in non-pituitary Cushing syndrome.
The Journal of clinical endocrinology and metabolismMedical Therapies of Cushing's Disease-Part 2.
Endocrinology and metabolism clinics of North AmericaA comparison of bilateral internal jugular vein sampling with bilateral inferior petrosal sinus sampling at Mayo Clinic for the subtype evaluation of corticotropin-dependent cushing syndrome.
PituitaryPrevalence and Associated Risk Factors for Venous Thromboembolism in a Large Cohort of Patients With Cushing Disease.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsManagement of patients with Cushing's disease in the Gulf Region: a Delphi consensus recommendation.
Frontiers in endocrinologyComparison of Localization Methods in Cushing Disease-Could [11C]C-Methionine PET/CT Replace MRI or BIPSS?
CancersDevelopment and validation of clinical screening systems for Cushing disease in the United States.
PituitaryEnhanced Radiological Detection of a Corticotroph Adenoma Following Treatment With Osilodrostat.
JCEM case reportsCushing Disease Mimicking Ectopic Adrenocorticotropic Hormone-Secreting Disease.
AACE endocrinology and diabetesUsing the Desmopressin Stimulation Test to Assess for Residual Tumor in Cushing Disease With Cyclic Hypercortisolism.
JCEM case reportsRisk comparison and assessment model of deep vein thrombosis in patients with pituitary adenomas after Surgery:A retrospective cohort study.
European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical OncologyClinical presentation, predictive factors and management of patients with Nelson syndrome: a retrospective study.
PituitaryOvernight Dexamethasone Suppression Test: Enhanced Accuracy With Late-afternoon Cortisol and Morning/Late-afternoon ACTH.
The Journal of clinical endocrinology and metabolismChanging face of Cushing's disease over three decades in pituitary center.
Journal of endocrinological investigationEmergence of NEC features in corticotroph PitNETs: primary tumor, radiation-induced transformation, or metastasis?
Brain tumor pathologyBlood steroid hormone profile and clinical outcomes following switching from metyrapone to osilodrostat in patients with Cushing disease.
Endocrine journalSystematic Cavernous Sinus Exploration Combined With Early Hormonal Assessment in Cushing Disease.
NeurosurgeryThe STUB1-TPIT axis regulates the secretion of adrenocorticotrophic hormone in cushing disease.
Journal of translational medicineRelapse of Cyclic Cushing Syndrome With a 19-Year Remission: Potential Involvement of COVID-19 in the Relapse.
JCEM case reportsProspective Multicenter Evaluation of [11C]Methionine PET/MRI Sensitivity Compared with MRI for Localizing Small Pituitary Neuroendocrine Tumor or Pituitary Adenoma in Cushing Disease.
Journal of nuclear medicine : official publication, Society of Nuclear MedicineCongress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for the Role of Medical Perioperative Management for Patients With Functioning Pituitary Adenomas.
NeurosurgerySeasonal elevation in equine adrenocorticotropic hormone occurs throughout the contiguous United States and is influenced by latitude and age.
Journal of the American Veterinary Medical AssociationAdvances in the medical management of hypercortisolism: current strategies, monitoring, and emerging therapies.
Current opinion in endocrinology, diabetes, and obesityLong-term outcomes of pituitary radiotherapy and their predictive factors in childhood and adolescent-onset Cushing disease.
European journal of endocrinologyEctopic Cushing Syndrome due to Metastatic Medullary Thyroid Cancer.
AACE endocrinology and diabetesA Case of Spontaneously Resolving Cushing Disease.
JCEM case reportsCase Report: Refractory hypokalemia as a clinical manifestation of Crooke's cell adenoma.
Frontiers in medicineResults for LINAC-based radiosurgery or fractionated stereotactic radiotherapy for corticotropic pituitary tumors: a single-center retrospective cohort.
Journal of endocrinological investigationPostoperative Considerations Following Pituitary Surgery: A Guide for Clinicians.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsExploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC-A Narrative Review.
International journal of molecular sciencesPituitary Photon-Counting Detector CT for Cushing Disease: Preoperative Lesion Localization, Intraoperative Findings, and Postoperative Outcomes.
AJNR. American journal of neuroradiologyDiagnosis of Cushing's syndrome with generalized linear model and development of mobile application.
MedicineGenetic profiling of synchronous pituitary corticotroph adenomas.
PituitaryEndocrine Disorder: Advance in Understanding Diabetes and Obesity A Review.
Journal of pharmacy & bioallied sciencesmiR-375 Regulation of SSTR2 Expression in Corticotroph Pituitary Cells: Somatostatin Receptor Ligands Effects.
EndocrinologyThe USP8 Mutational Status in Combination With Postsurgical Cortisol Levels for Predicting Recurrence of Cushing Disease.
The Journal of clinical endocrinology and metabolismUtility of intraoperative ultrasound in identifying pituitary adenoma hidden behind a cystic lesion in Cushing's disease.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaInnovative Approaches to Improve the Success of Pituitary Surgery in Cushing's Disease: A Cost-Effectiveness Perspective.
Clinical endocrinologyA Second Look at Cushing Disease: Hypercortisolism Recurrence From Another Gland.
JCEM case reportsPrevalence, Treatment Patterns, and Characteristics of US Adults with Confirmed or at Risk for Growth Hormone Deficiency.
Advances in therapyThe prevalence and predictors of Cushing disease recurrence: a 10-year experience of a pituitary tumor center of excellence.
EndocrineEpigenetic implications in the pathogenesis of corticotroph tumors.
PituitaryOsilodrostat Treatment of Cushing Syndrome in Real-World Clinical Practice: Findings From the ILLUSTRATE study.
Journal of the Endocrine SocietyACTH-dependent Cyclic Cushing Syndrome With Successful Pregnancy and Early Postpartum Relapse.
JCEM case reportsA Rare Case of ACTH-Secreting Pituitary Adenoma in a Pediatric Patient. Diagnosis and Management: Case Report and Literature Review.
Clinical case reportsGenetic models of Cushing's disease : From cells, in vivo transgenic models to human pituitary organoids.
PituitaryMortality in Cushing's syndrome: declining over 2 decades but remaining higher than the general population.
European journal of endocrinologySuccessful Medical Management of Cushing Disease With Metyrapone Throughout Pregnancy: A Report of 2 Cases.
JCEM case reportsOsilodrostat Treatment for Adrenal and Ectopic Cushing Syndrome: Integration of Clinical Studies With Case Presentations.
Journal of the Endocrine SocietyNotable lacking of bone mineral density measurement in cushing syndrome: a nationwide study based on the US insurance claim database.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USABig data determination and validation of reference range for 24-h urine cortisol by liquid chromatography-mass spectrometry.
European journal of endocrinologyReview of 7T MRI imaging of pituitary microadenomas: are we there yet?
NeuroradiologyClinical and Radiographic Presentation and Surgical Outcomes of T-Box Pituitary Transcription Factor (TPIT) Silent Corticotroph Pituitary Neuroendocrine Tumors: A Multi-institutional Experience and Review of the Literature.
World neurosurgeryChallenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.
La Pediatria medica e chirurgica : Medical and surgical pediatricsTreatment-resistant Cushing disease and acromegaly in a young woman: A case of functional pituitary macroadenoma.
Radiology case reportsAvascular Necrosis in Patients With Cushing Syndrome.
JCEM case reportsRecognition and Management of Ectopic ACTH Secreting Tumors.
Journal of the Endocrine SocietyA Case of Severe Cushing Syndrome due to Metastatic Adrenocortical Carcinoma Treated With Osilodrostat.
AACE clinical case reportsDiagnostic Value of 11C-Methionine PET-CT Imaging in Persistent or Recurrent Cushing Disease After Surgery.
The Journal of clinical endocrinology and metabolismImpact of Frailty on Surgical Outcomes of Patients With Cushing Disease Using the Multicenter Registry of Adenomas of the Pituitary and Related Disorders Registry.
NeurosurgeryMedical Treatment of Cushing's Syndrome.
Endocrinology and metabolism (Seoul, Korea)Letter: Predictors of Durable Remission After Successful Surgery for Cushing Disease: Results From the Multicenter RAPID Registry.
NeurosurgeryImpaired cardiac pumping function and increased afterload as determinants of early hemodynamic alterations in Cushing disease.
Scientific reportsCushing Disease Clinical Phenotype and Tumor Behavior Vary With Age: Diagnostic and Perioperative Implications.
The Journal of clinical endocrinology and metabolismDesmopressin is a safe and effective secretagogue to replace corticotropin-releasing hormone in petrosal sinus sampling.
Annales d'endocrinologieHormones synthesized by the adrenal reticulum protect bone density in premenopausal women with Cushing syndrome.
BonePituitary adenomas in children: surgical course and functional outcome. Lille cohort retrospective study.
Neuro-ChirurgieApproach to the Patient With Cyclical Cushing Syndrome.
The Journal of clinical endocrinology and metabolismFrom the perspective of a scientist with Cushing disease, what did not kill me made my science stronger.
Nature reviews. EndocrinologyBone Mineral Density Improvement After Resolution of Endogenous Cushing Syndrome: A Systematic Review and Meta-Analysis.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsDiagnostic Accuracy and Value of CXCR4-targeted PET/MRI Using 68Ga-Pentixafor for Tumor Localization in Cushing Disease.
RadiologyCushing Disease in a Patient with Double Pituitary Adenomas Complicated with Diabetes Insipidus: A Case Report.
Journal of the ASEAN Federation of Endocrine SocietiesAssessment of the initial results of pituitary tumor registry at a tertiary hospital of Iran: 2009-2022.
Journal of diabetes and metabolic disordersImproved Clinical Outcomes During Long-term Osilodrostat Treatment of Cushing Disease With Normalization of Late-night Salivary Cortisol and Urinary Free Cortisol.
Journal of the Endocrine SocietyCharacterization of a Novel Variant in the NR3C1 Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome.
The Journal of clinical endocrinology and metabolismMultilineage Pituitary Neuroendocrine Tumors Expressing TPIT and SF1: A Clinicopathological Series of Six Tumors.
Endocrine pathologyCushing-induced Male Hypogonadism: Deciphering a Prevalent Yet Understudied Relationship.
The Journal of clinical endocrinology and metabolismContrast-Enhanced CISS/FIESTA Imaging for Increased Conspicuity of Pituitary Microadenomas in Cushing Disease.
AJNR. American journal of neuroradiologyPartial adrenalectomy by the posterior retroperitoneoscopic approach: A single institution series of 766 consecutive procedures.
World journal of surgeryCushing's syndrome and COVID-19.
PituitaryEctopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report.
BMC endocrine disordersA Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.
CureusNew Approaches to the Treatment of Hypercortisolism.
Annual review of medicineCushing disease presenting with hypertension in association with nonfunctioning unilateral adrenal adenoma.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneCushing syndrome in paediatric population: who and how to screen.
Journal of endocrinological investigationInitial development of a rapid, portable, stall-side ELISA for the measurement of equine adrenocorticotropic hormone.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncHypercoagulable state and risk of venous thromboembolism in Cushing syndrome.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesPredictors of Durable Remission After Successful Surgery for Cushing Disease: Results From the Multicenter RAPID Registry.
NeurosurgeryPCSK1N as a Tumor Size Marker and an ER Stress Response Protein in Corticotroph Pituitary Adenomas.
The Journal of clinical endocrinology and metabolismCombined Endonasal and Transseptal Approach to Achieve Binostril Access in Endoscopic Skull Base Approaches to Minimize Nasal Morbidity: A Technical Note.
World neurosurgeryImpaired 11β-HSD1 Activity in a Male Patient With Cushing Disease Resulting in Lack of the Full Cushingoid Phenotype.
JCEM case reportsUnveiling the Uncommon: A Case Series on Cushing's Disease During Pregnancy.
CureusThe Elusive Search for the Ideal Pharmacological Treatment for Cushing Disease.
EndocrinologyPediatric Cushing Syndrome: a unique account of a rare but important condition.
Translational pediatricsSpontaneous Cushing's Disease Remission Induced by Pituitary Apoplexy.
CureusFor the Forthcoming Winning Shot in the Battle against Cushing Disease.
Endocrinology and metabolism (Seoul, Korea)Papillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome.
AACE clinical case reportsAdrenocorticotropic Hormone Producing Pituitary Carcinoma in the Falx Cerebri, Retroclival Region, Ethmoidal Cells, and Other Locations.
CureusHigh-throughput Screening for Cushing Disease: Therapeutic Potential of Thiostrepton via Cell Cycle Regulation.
EndocrinologyGranulation Patterns of Functional Corticotroph Tumors Correlate with Tumor Size, Proliferative Activity, T2 Intensity-to-White Matter Ratio, and Postsurgical Early Biochemical Remission.
Endocrine pathologyMulticenter Registry of Adenomas of the Pituitary and Related Disorders: Initial Description of Cushing Disease Cohort, Surgical Outcomes, and Surgeon Characteristics.
NeurosurgeryCushing Syndrome Is Associated With a Higher Risk of Cancer-A Nationwide Cohort Study.
The Journal of clinical endocrinology and metabolismPhoton-Counting Detector CT Iodine Maps for Pituitary Adenoma in Cushing Disease.
AJR. American journal of roentgenologyProlonged Adrenal Insufficiency After Osilodrostat Exposure With Eventual Recovery of Adrenal Function.
JCEM case reportsACTH-dependent Cushing Syndrome with No Peripheral Response But a Marked Petrosal Sinus ACTH Response to Desmopressin.
JCEM case reportsE-cadherin expression and gene expression profiles in corticotroph pituitary neuroendocrine tumor subtypes.
Journal of neuropathology and experimental neurologyClinicoradiological Parameters and Biochemical and Molecular Alterations Predicting Remission and Recurrence After Surgical Treatment of Corticotroph Adenomas-Cushing Disease.
World neurosurgeryA long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours.
Clinical endocrinologyChallenges in the postsurgical recovery of cushing syndrome: glucocorticoid withdrawal syndrome.
Frontiers in endocrinologySpatial Transcriptomic Analysis of Pituitary Corticotroph Tumors.
Journal of the Endocrine SocietyDouble pituitary adenomas: report of two cases and systematic review of the literature.
Frontiers in endocrinologyAn objective way to predict remission and relapse in Cushing disease using Bayes' theorem of probability.
Journal of endocrinological investigationVenous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey.
Endocrine connectionsAnalysis of brain structural covariance network in Cushing disease.
HeliyonFrom Knee Pain Consultation to Pituitary Surgery: The Challenge of Cushing Disease Diagnosis.
JCEM case reportsMesenchymal Stem Cells Induce an Immunosuppressive Microenvironment in Pituitary Tumors.
The Journal of clinical endocrinology and metabolismBilateral Inferior Petrosal Sinus Sampling Without Lateralization Is Less Accurate for the Diagnosis of Cushing Disease.
Journal of the Endocrine Society[18F]FET PET/MRI: An Accurate Technique for Detection of Small Functional Pituitary Tumors.
Journal of nuclear medicine : official publication, Society of Nuclear MedicineInfantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity.
JCEM case reportsMachine Learning May Be an Alternative to BIPSS in the Differential Diagnosis of ACTH-dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismMedium and Long-Term Data from a Series of 96 Endoscopic Transsphenoidal Surgeries for Cushing Disease.
Journal of Korean Neurosurgical Society7T MRI for Cushing Disease: A Single-Institution Experience and Literature Review.
AJNR. American journal of neuroradiologyAccuracy of the 10 μg desmopressin test for differential diagnosis of Cushing syndrome: a systematic review and meta-analysis.
Frontiers in endocrinologyEffects of the Cortisol Milieu on Tumor-Infiltrating Immune Cells in Corticotroph Tumors.
EndocrinologyConsensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.
Nature reviews. EndocrinologyCushing Disease Psychosis Identified as Postoperative Psychosis.
Journal of the Academy of Consultation-Liaison PsychiatryBack to the Future: Dynamic Contrast-Enhanced Photon-Counting Detector CT for the Detection of Pituitary Adenoma in Cushing Disease.
AJNR. American journal of neuroradiologyConsensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing's syndrome: Genetics of Cushing's syndrome.
Annales d'endocrinologieSurveillance Imaging Strategies for Pituitary Adenomas: When, How Frequent, and When to Stop.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsPaediatric Cushing syndrome: a prospective, multisite, observational cohort study.
The Lancet. Child & adolescent healthFalse-Negative Inferior Petrosal Sinus Sampling in Young-Onset Cushing Disease: What Happens Next.
Hormone research in paediatricsInferior Petrosal Sinus Sampling Tumor Lateralization and the Surgical Treatment of Cushing Disease: A Meta-Analysis and Systematic Review.
World neurosurgeryEfficacious Primary Pasireotide Therapy in a Case of a Large Invasive Adrenocorticotropin-secreting Pituitary Tumor.
JCEM case reportsPituitary Crooke Cell Adenoma: Two Cases of an Aggressive Pituitary Adenoma.
JCEM case reportsConsecutive resections of double pituitary adenoma for resolution of Cushing disease: illustrative case.
Journal of neurosurgery. Case lessonsAlternative Approach to BIPSS in the Differential Diagnosis of ACTH-Dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismThe utility of IGF1 in the evaluation of pediatric patients with endogenous hypercortisolemia.
Pediatric researchHigh prevalence of vertebral fractures associated with preoperative cortisol levels in patients with recent diagnosis of Cushing disease.
Annals of medicineLetter: Toward Optimized and Cost-Efficient Protocols for Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing Disease.
NeurosurgeryGenomics, Transcriptomics, and Epigenetics of Sporadic Pituitary Tumors.
Archives of medical researchCommentary: Endoscopic Endonasal Transsphenoidal Resection for MRI-Negative Cushing Disease With 2 Separate Functioning Pituitary Adenomas Neuroendocrine Tumors: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Pituitary tumor registry: a multidisciplinary program protocol.
Journal of diabetes and metabolic disordersRadiation-induced Undifferentiated Malignant Pituitary Tumor After 5 Years of Treatment for Cushing Disease.
JCEM case reportsSuccessful Management of Cushing Syndrome From Ectopic ACTH Secretion in an Adolescent With Osilodrostat.
JCEM case reportsThe patient's sex determines the hemodynamic profile in patients with Cushing disease.
Frontiers in endocrinologyAngiographic cross-filling between inferior petrosal sinuses and alteration of adrenocorticotropic hormone sampling results for tumor localization in Cushing disease.
Journal of neurosurgeryEndoscopic Endonasal Transsphenoidal Resection for MRI-Negative Cushing Disease With 2 Separate Functioning Pituitary Adenomas Neuroendocrine Tumors: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Crooke Cell Adenoma Confers Poorer Endocrinological Outcomes Compared with Corticotroph Adenoma: Results of a Multicenter, International Analysis.
World neurosurgeryDental Considerations and Precautions Associated with Oral Excisional Biopsy on a Patient with Cushing's Syndrome (Hypercortisolism).
Dental clinics of North AmericaToward Optimized and Cost-Efficient Protocols for Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing Disease.
NeurosurgerySpatial Transcriptomic Analysis of Pituitary Corticotroph Tumors Unveils Intratumor Heterogeneity.
medRxiv : the preprint server for health sciencesA Double-Headed Physiologic Monster: A Case Report and Literature Review.
CureusPituitary adenomas registry in Thailand.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaAn individualized approach to the management of Cushing disease.
Nature reviews. EndocrinologyOvine CRH Stimulation and 8 mg Dexamethasone Suppression Tests in 323 Patients With ACTH-Dependent Cushing's Syndrome.
The Journal of clinical endocrinology and metabolismThe clinicopathological features and prognosis of silent corticotroph tumors: an updated systematic review and meta-analysis.
EndocrineRecognition of Nonneoplastic Hypercortisolism in the Evaluation of Patients With Cushing Syndrome.
Journal of the Endocrine SocietyCushing Syndrome: A Review.
JAMACushing's Disease Associated With Partially Empty Sella Turcica Syndrome: A Case Report.
CureusPulmonary embolism after delivery as the first manifestation of Cushing disease in pregnancy.
Polish archives of internal medicineSubtotal gland resection for MR negative Cushing disease with no detectable tumor on gland exploration: operative video.
Neurosurgical focus: VideoNasal and Sellar Anatomic Variations in Pituitary-Dependent Cushing Disease.
The Journal of craniofacial surgeryAlcohol-induced Cushing syndrome: report of eight cases and review of the literature.
Frontiers in endocrinologyCushing disease in pediatrics: an update.
Annals of pediatric endocrinology & metabolismSynchronous Posterior and Anterior Pituitary Tumors: A Case Report of a Hypothetic Paracrine Relationship.
Asian journal of neurosurgeryThe utility of PET for detecting corticotropinomas in Cushing disease: a scoping review.
Neurosurgical reviewGermline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
Frontiers in endocrinologyErythropoiesis in Cushing syndrome: sex-related and subtype-specific differences. Results from a monocentric study.
Journal of endocrinological investigationPostoperative Serum Cortisol and Cushing Disease Recurrence in Patients With Corticotroph Adenomas.
The Journal of clinical endocrinology and metabolismOutcomes of Endoscopic Transsphenoidal Approach for More Aggressive Pediatric Pituitary Adenomas: Early- and Late-Term Results from a Single Center Experience.
World neurosurgeryDistinct serum steroid profiles between adrenal Cushing syndrome and Cushing disease.
Frontiers in endocrinologyExploratory Study of the Association of Genetic Factors With Recovery of Adrenal Function in Cushing Disease.
Journal of the Endocrine SocietyNeurosurgical aspects and clinical outcomes on the treatment of Cushing disease in pediatric patients: Case series and literature review.
Surgical neurology internationalEvidence of Persistent Mild Hypercortisolism in Patients Medically Treated for Cushing Disease: the Haircush Study.
The Journal of clinical endocrinology and metabolismNelson syndrome and perinatal challenges: A case report and systematic review of the literature.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença Cushing.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Doença Cushing
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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.
- Neutralization of acyl-CoA-binding protein attenuates glucocorticoid-mediated suppression of cancer immunosurveillance.Proceedings of the National Academy of Sciences of the United States of America· 2026· PMID 41779791mais citado
- Body Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.
- Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.
- Cushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.
- Osilodrostat for the treatment of Cushing syndrome: an update.
- Vertebral fractures may occur early in the history of Cushing disease associating with male gender and degree of cortisol secretion.
- Late recurrence of Cushing disease with ubiquitin-specific protease 8 mutation 19 years after initial surgery.
- The Modern Presentation, Etiology, and Rate of Occurrence of Cushing Syndrome Differs when Compared to Prior Population-Based Studies.
- Symptom management with osilodrostat in multiple endocrine neoplasia type 1 with a Cushing syndrome presentation.
- Persistent remission after steroidogenesis inhibitor discontinuation in Cushing disease: a case series.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:96253(Orphanet)
- OMIM OMIM:219090(OMIM)
- MONDO:0009050(MONDO)
- GARD:12867(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1947304(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
