São casos da Síndrome de Cushing que se desenvolvem no próprio corpo (endógena), causados por uma produção anormal e excessiva do hormônio ACTH. Essa produção extra pode vir de um tumor na glândula hipófise (geralmente benigno, chamado adenoma) ou de um tumor localizado em outra parte do corpo, fora da hipófise.
Introdução
O que você precisa saber de cara
São casos da Síndrome de Cushing que se desenvolvem no próprio corpo (endógena), causados por uma produção anormal e excessiva do hormônio ACTH. Essa produção extra pode vir de um tumor na glândula hipófise (geralmente benigno, chamado adenoma) ou de um tumor localizado em outra parte do corpo, fora da hipófise.
Escala de raridade
<1/50kMuito rara
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
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 102 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
7 genes identificados com associação a esta condição.
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.
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.
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.
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
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.
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
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.
Variantes genéticas (ClinVar)
1,346 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
62 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 — Síndrome Cushing dependente de ACTH
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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
Ensaios em destaque
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Outros ensaios clínicos
Publicações mais relevantes
Safety and Effectiveness of Rivaroxaban Thromboprophylaxis in ACTH-dependent Cushing Syndrome.
Pacientes com Síndrome de Cushing ACTH-dependente enfrentam um alto risco de trombose venosa (VTE). Este estudo demonstrou que a profilaxia rotineira com rivaroxabana oral (10 mg/dia) foi extremamente eficaz, eliminando eventos de VTE após sua introdução (comparado a 13,8% sem profilaxia), e segura, sem sangramentos. Para pacientes e médicos, isso sugere a importância de iniciar precocemente a rivaroxabana ao diagnóstico e mantê-la nos períodos peri e pós-operatório para prevenir coágulos.
🇧🇷 traduzido18 F-FDG PET/CT and 68 Ga-DOTA-NOC PET/MRI in an Adolescent With Ectopic Adrenocorticotropic Hormone Syndrome From a Presacral Teratoma.
Este artigo descreve o caso de uma adolescente com Síndrome de Cushing grave causada por um tumor raro (um teratoma contendo um NET secretor de ACTH) localizado no sacro. O diagnóstico preciso dessa fonte ectópica de ACTH exigiu a combinação de exames de imagem avançados, como PET/CT e PET/MRI, que foram cruciais para localizar e caracterizar o tumor. Para pacientes e médicos, este caso enfatiza a necessidade de investigação diagnóstica aprofundada e o uso de múltiplas modalidades de imagem em crianças com Cushing grave, a fim de identificar a fonte funcional do problema e guiar o tratamento adequado.
🇧🇷 traduzidoOvernight Dexamethasone Suppression Test: Enhanced Accuracy With Late-afternoon Cortisol and Morning/Late-afternoon ACTH.
O teste de supressão com dexametasona noturna (ODST) para diagnosticar a Síndrome de Cushing ACTH-dependente, embora sensível, pode ter especificidade limitada. Este estudo demonstra que a medição do cortisol no final da tarde e do ACTH na manhã e no final da tarde, após a dexametasona, pode aumentar significativamente a precisão do teste. A medição do ACTH mostrou-se especialmente útil em pacientes que usam contraceptivos orais ou têm doença renal crônica, atingindo 100% de sensibilidade para o diagnóstico, enquanto o cortisol do final da tarde aprimorou a distinção entre remissão e persistência da doença. Embora promissoras, essas modificações inovadoras requerem validação adicional antes de serem amplamente adotadas na prática clínica.
🇧🇷 traduzidoChallenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.
Este caso de um menino de 12 anos destaca a raridade e os desafios no diagnóstico da Doença de Cushing na pediatria, onde exames de imagem frequentemente falham em identificar o microadenoma produtor de ACTH. Para pacientes e médicos, é crucial saber que o diagnóstico definitivo muitas vezes requer testes especializados como a coleta de amostras do seio petroso inferior (IPSS). O tratamento bem-sucedido, que incluiu cirurgia e radioterapia, normalizou o hipercortisolismo, mas resultou em uma complicação relevante: a deficiência de hormônio do crescimento, exigindo acompanhamento futuro.
🇧🇷 traduzidoEctopic Adrenocorticotropic Hormone (ACTH)-Dependent Cushing Syndrome Secondary to Olfactory Neuroblastoma: A Rare Entity.
Este artigo descreve um caso extremamente raro de Síndrome de Cushing dependente de ACTH, causada por um neuroblastoma olfativo (ONB) – um tipo de tumor nasal que secreta ACTH. Para pacientes e médicos, o caso enfatiza a importância de um diagnóstico sistemático e multidisciplinar para identificar a fonte rara de ACTH, e que a remoção cirúrgica completa do tumor, com terapia adjuvante, pode levar à remissão total da doença e melhora significativa.
🇧🇷 traduzidoPublicações recentes
Ectopic ACTH-dependent Cushing syndrome due to mature ovarian teratoma.
Safety and Effectiveness of Rivaroxaban Thromboprophylaxis in ACTH-dependent Cushing Syndrome.
Ectopic Adrenocorticotropic Hormone (ACTH)-Dependent Cushing Syndrome Secondary to Olfactory Neuroblastoma: A Rare Entity.
18 F-FDG PET/CT and 68 Ga-DOTA-NOC PET/MRI in an Adolescent With Ectopic Adrenocorticotropic Hormone Syndrome From a Presacral Teratoma.
A 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.
📚 EuropePMC30 artigos no totalmostrando 62
Safety and Effectiveness of Rivaroxaban Thromboprophylaxis in ACTH-dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismEctopic Adrenocorticotropic Hormone (ACTH)-Dependent Cushing Syndrome Secondary to Olfactory Neuroblastoma: A Rare Entity.
AACE endocrinology and diabetes18 F-FDG PET/CT and 68 Ga-DOTA-NOC PET/MRI in an Adolescent With Ectopic Adrenocorticotropic Hormone Syndrome From a Presacral Teratoma.
Clinical nuclear medicineA 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.
PituitaryOvernight Dexamethasone Suppression Test: Enhanced Accuracy With Late-afternoon Cortisol and Morning/Late-afternoon ACTH.
The Journal of clinical endocrinology and metabolismRapid Adrenal Atrophy Following Excision of an Ectopic Adrenocorticotropin-Secreting Lung Carcinoid Tumor.
JCEM case reportsProlactin-adjusted inferior petrosal sinus sampling: Pituitary and ectopic adrenocorticotropic hormone-dependent Cushing syndrome.
Journal of neuroendocrinologyRadiofrequency Ablation: Alternative Treatment of Ectopic Adrenocorticotropic Syndrome Secondary to Lung Carcinoid Tumor.
JCEM case reportsA Second Look at Cushing Disease: Hypercortisolism Recurrence From Another Gland.
JCEM case reportsACTH-dependent Cyclic Cushing Syndrome With Successful Pregnancy and Early Postpartum Relapse.
JCEM case reportsChallenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.
La Pediatria medica e chirurgica : Medical and surgical pediatricsPosterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.
CureusSuccessful Treatment of Severe Ectopic ACTH-Dependent Cushing Syndrome Complicated by Hypocalcemia With Osilodrostat.
JCEM case reportsComplete Tumor Resection and Radical Lymphadenectomy: Potential Cure for Adrenocorticotropic Hormone (ACTH)-Dependent Pulmonary Carcinoid.
CureusLongitudinal Evaluation of Reproductive Endocrine Function in Men With ACTH-Dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismACTH-dependent Cushing Syndrome with No Peripheral Response But a Marked Petrosal Sinus ACTH Response to Desmopressin.
JCEM case reportsThe diagnostic yield of inferior petrosal sinus sampling in Cushing syndrome in the era of ovine CRH shortage.
Acta neurochirurgicaMachine Learning May Be an Alternative to BIPSS in the Differential Diagnosis of ACTH-dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismDelayed Diagnosis of Ectopic Cushing Syndrome.
JCEM case reportsA Case of an Ectopic ACTH-Producing Tumor With Adrenal Shrinkage During Osilodrostat Administration.
JCEM case reportsUtility of Simple and Non-Invasive Strategies Alternative to Inferior Petrosal Sinus Sampling and Peripheral CRH Stimulation in Differential Diagnosis of ACTH-Dependent Cushing Syndrome.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeFalse-Negative Inferior Petrosal Sinus Sampling in Young-Onset Cushing Disease: What Happens Next.
Hormone research in paediatricsAdrenocorticotropic Hormone-Dependent Cushing's Syndrome Complicated With Gastric Ulcer Perforation in a 30-Year-Old Saudi Female: A Case Report and a Review of the Literature.
CureusAlternative Approach to BIPSS in the Differential Diagnosis of ACTH-Dependent Cushing Syndrome.
The Journal of clinical endocrinology and metabolismClival Ectopic Pituitary Adenoma Causing Cushing Syndrome.
JCEM case reportsHeterogeneity of TPIT expression in ACTH-secreting extra-pituitary neuroendocrine tumors (NETs) supports the existence of different cellular programs in pancreatic and pulmonary NETs.
Virchows Archiv : an international journal of pathologyACTH-Secreting Renal Neuroendocrine Tumor on 68 Ga-DOTATATE PET/CT.
Clinical nuclear medicineA case report and literature review of Carney complex with atrial adenomyxoma.
BMC endocrine disordersShould We Use Prolactin Adjustment in Bilateral Inferior Petrosal Sinus Sampling to Diagnose Cushing Disease? A Joint Meta-Analysis of Head-to-Head Diagnostic Tests Accuracy Studies.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsCorticotroph cell hyperplasia as a rare cause of ACTH-dependent Cushing syndrome.
Endocrinologia, diabetes y nutricionDynamic Testing for Differential Diagnosis of ACTH-Dependent Cushing Syndrome: A Systematic Review and Meta-analysis.
The Journal of clinical endocrinology and metabolismEctopic ACTH-producing neuroendocrine tumor occurring with large recurrent metastatic pheochromocytoma: a case report.
BMC endocrine disordersDifferences in the spectrum of steroidogenic enzyme inhibition between Osilodrostat and Metyrapone in ACTH-dependent Cushing syndrome patients.
European journal of endocrinologyRapidly Fatal Ectopic Adrenocorticotropic Hormone Syndrome in a 9-Year-Old Girl With Ewing Sarcoma.
AACE clinical case reportsSimultaneous pituitary and adrenal adenomas in a patient with non ACTH dependent Cushing syndrome; a case report with literature review.
International journal of surgery case reportsEvaluation of FKBP5 as a cortisol activity biomarker in patients with ACTH-dependent Cushing syndrome.
Journal of clinical & translational endocrinologyEtiology-, Sex-, and Tumor Size-Based Differences in Adrenocorticotropin-Dependent Cushing Syndrome.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsTo determine the efficacy of bilateral inferior petrosal sinus sampling in differentiating Cushing disease from ectopic Cushing syndrome.
JPMA. The Journal of the Pakistan Medical AssociationPitfalls in Performing and Interpreting Inferior Petrosal Sinus Sampling: Personal Experience and Literature Review.
The Journal of clinical endocrinology and metabolismPercutaneous Bilateral Adrenal Radiofrequency Ablation in Severe Adrenocorticotropic Hormone-dependent Cushing Syndrome.
Journal of clinical imaging scienceIs it Time for a New Approach to the Differential Diagnosis of ACTH-Dependent Cushing Syndrome?
The Journal of clinical endocrinology and metabolismDifferential diagnostic value of bilateral inferior Petrosal sinus sampling (BIPSS) in ACTH-dependent Cushing syndrome: a systematic review and Meta-analysis.
BMC endocrine disordersProspective Evaluation of Late-Night Salivary Cortisol and Cortisone by EIA and LC-MS/MS in Suspected Cushing Syndrome.
Journal of the Endocrine SocietyEctopic ACTH- and/or CRH-Producing Pheochromocytomas.
The Journal of clinical endocrinology and metabolismBilateral Adrenalectomy: Differences between Cushing Disease and Ectopic ACTH-Producing Tumors.
Annals of surgical oncologyPostoperative expression of Cushing disease in a young male: metamorphosis of silent corticotroph adenoma?
Endocrinology, diabetes & metabolism case reports68Ga-DOTATATE PET/CT of Ectopic Cushing Syndrome Due to Appendicular Carcinoid.
Clinical nuclear medicineChallenges in diagnosis of disease reported 100 years back: Cushing syndrome; recent advances.
JPMA. The Journal of the Pakistan Medical AssociationAn Uncommon Case of Ectopic Adrenocorticotropic Hormone Syndrome from a Pancreatic Neuroendocrine Tumor.
CureusValue of fluorine-18-fluorodeoxyglucose PET/CT in localizing the primary lesion in adrenocorticotropic hormone-dependent Cushing syndrome.
Nuclear medicine communicationsAdrenocorticotropic Hormone-Dependent Cushing Syndrome Caused by an Olfactory Neuroblastoma.
Clinical medicine insights. Endocrinology and diabetesSevere Cushing Syndrome Due to an ACTH-Producing Pheochromocytoma: A Case Presentation and Review of the Literature.
Journal of the Endocrine SocietyCase-series of paraneoplastic Cushing syndrome in small-cell lung cancer.
Endocrinology, diabetes & metabolism case reportsCase report of a bilateral adrenal myelolipoma associated with Cushing disease.
MedicineTransient pituitary ACTH-dependent Cushing syndrome caused by an immune checkpoint inhibitor combination.
Melanoma researchA Case of Pulmonary Carcinoid Tumor with a Superimposed Aspergilloma Presenting As a Covert Ectopic Adrenocorticotropic Hormone Syndrome.
Frontiers in endocrinologyVENOUS SAMPLING FOR CUSHING DISEASE: COMPARISON OF INTERNAL JUGULAR VEIN AND INFERIOR PETROSAL SINUS SAMPLING.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsThe first description of metyrapone use in severe Cushing Syndrome due to ectopic ACTH secretion in an infant with immature sacrococcygeal teratoma. Case Report.
Neuro endocrinology lettersA Case of Ectopic Adrenocorticotropic Hormone Syndrome in Small Cell Lung Cancer.
Tuberculosis and respiratory diseasesPITUITARY MRI FINDINGS IN PATIENTS WITH PITUITARY AND ECTOPIC ACTH-DEPENDENT CUSHING SYNDROME: DOES A 6-MM PITUITARY TUMOR SIZE CUT-OFF VALUE EXCLUDE ECTOPIC ACTH SYNDROME?
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsCushing syndrome: update on testing.
Endocrinology and metabolism clinics of North AmericaEctopic ACTH-secreting pituitary adenoma of the sphenoid sinus: case report of endoscopic endonasal resection and systematic review of the literature.
Neurosurgical focusAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Cushing dependente de ACTH.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome Cushing dependente de ACTH
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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.
- Safety and Effectiveness of Rivaroxaban Thromboprophylaxis in ACTH-dependent Cushing Syndrome.
- 18 F-FDG PET/CT and 68 Ga-DOTA-NOC PET/MRI in an Adolescent With Ectopic Adrenocorticotropic Hormone Syndrome From a Presacral Teratoma.
- Overnight Dexamethasone Suppression Test: Enhanced Accuracy With Late-afternoon Cortisol and Morning/Late-afternoon ACTH.
- Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.
- Ectopic Adrenocorticotropic Hormone (ACTH)-Dependent Cushing Syndrome Secondary to Olfactory Neuroblastoma: A Rare Entity.
- Ectopic ACTH-dependent Cushing syndrome due to mature ovarian teratoma.
- A 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.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99892(Orphanet)
- MONDO:0020528(MONDO)
- GARD:19699(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55789431(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
