Raras
Buscar doenças, sintomas, genes...
Doença Cushing
ORPHA:96253CID-10 · E24.0CID-11 · 5A70.0OMIM 219090DOENÇA RARA

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.

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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.

Pesquisas ativas
15 ensaios
72 total registrados no ClinicalTrials.gov
Publicações científicas
1.268 artigos
Último publicado: 2026 Apr 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
4.0
Europe
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E24.0
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Sinais e sintomas

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

Partes do corpo afetadas

📏
Crescimento
9 sintomas
🧠
Neurológico
8 sintomas
🧬
Pele e cabelo
7 sintomas
🩸
Sangue
4 sintomas
🦴
Ossos e articulações
4 sintomas
💪
Músculos
3 sintomas

+ 33 sintomas em outras categorias

Características mais comuns

90%prev.
Adenoma de células corticotróficas hipofisárias
Muito frequente (99-80%)
90%prev.
Aumento do nível urinário de cortisol
Muito frequente (99-80%)
90%prev.
Aumento paradoxal da secreção de cortisol no teste de supressão por dexametasona
Muito frequente (99-80%)
90%prev.
Aumento do nível circulante de cortisol
Muito frequente (99-80%)
55%prev.
Linfopenia
Frequente (79-30%)
55%prev.
Imunodeficiência
Frequente (79-30%)
79sintomas
Muito frequente (4)
Frequente (32)
Ocasional (20)
Muito raro (8)
Sem dados (15)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 79 características clínicas mais associadas, ordenadas por frequência.

Adenoma de células corticotróficas hipofisáriasPituitary corticotropic cell adenoma
Muito frequente (99-80%)90%
Aumento do nível urinário de cortisolIncreased urinary cortisol level
Muito frequente (99-80%)90%
Aumento paradoxal da secreção de cortisol no teste de supressão por dexametasonaParadoxical increased cortisol secretion on dexamethasone suppression test
Muito frequente (99-80%)90%
Aumento do nível circulante de cortisolIncreased circulating cortisol level
Muito frequente (99-80%)90%
LinfopeniaLymphopenia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico1.268PubMed
Últimos 10 anos200publicações
Pico202585 papers
Linha do tempo
2026Hoje · 2026🧪 1982Primeiro ensaio clínico📈 2025Ano 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

Genes associados

8 genes identificados com associação a esta condição. Padrão de herança: Not applicable.

CDH23Cadherin-23Major susceptibility factor inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (2)
Sensory processing of sound by outer hair cells of the cochleaSensory processing of sound by inner hair cells of the cochlea
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (12)
autosomal recessive nonsyndromic hearing loss 12Usher syndrome type 1Dnonsyndromic genetic hearing lossUsher syndrome
HGNC:13733UniProt:Q9H251
AIPSmall ribosomal subunit protein bS22, mitochondrialMENDELIANModerado
FUNÇÃO

May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation

LOCALIZAÇÃO

Mitochondrion matrixNucleus

VIAS BIOLÓGICAS (2)
Aryl hydrocarbon receptor signallingGene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
OUTRAS DOENÇAS (7)
growth hormone secreting pituitary adenoma 1familial isolated pituitary adenomapituitary gigantismsilent pituitary adenoma
HGNC:358UniProt:Q9NWT8
USP48Ubiquitin carboxyl-terminal hydrolase 48Disease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleusCell projection, cilium

VIAS BIOLÓGICAS (1)
Ub-specific processing proteases
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
68.8 TPM
Cérebro - Hemisfério cerebelar
55.8 TPM
Cerebelo
55.3 TPM
Ovário
36.8 TPM
Glândula adrenal
35.5 TPM
OUTRAS DOENÇAS (3)
hearing loss, autosomal dominant 85autosomal dominant nonsyndromic hearing lossCushing disease due to pituitary adenoma
HGNC:18533UniProt:Q86UV5
NR3C1Glucocorticoid receptorDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleusMitochondrionCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, microtubule organizing center, centrosomeChromosomeNucleus, nucleoplasm

VIAS BIOLÓGICAS (6)
PTK6 ExpressionRegulation of RUNX2 expression and activityRegulation of NPAS4 gene transcriptionFOXO-mediated transcription of oxidative stress, metabolic and neuronal genesSUMOylation of intracellular receptors
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
55.3 TPM
Nervo tibial
34.5 TPM
Tecido adiposo
34.1 TPM
Fibroblastos
33.6 TPM
Artéria tibial
32.7 TPM
OUTRAS DOENÇAS (2)
glucocorticoid resistanceCushing disease due to pituitary adenoma
HGNC:7978UniProt:P04150
ATRXTranscriptional regulator ATRXDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

NucleusChromosome, telomereNucleus, PML body

VIAS BIOLÓGICAS (2)
Inhibition of DNA recombination at telomereDefective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (5)
intellectual disability-hypotonic facies syndrome, X-linked, 1alpha-thalassemia-myelodysplastic syndromealpha thalassemia-X-linked intellectual disability syndromegastric neuroendocrine neoplasm
HGNC:886UniProt:P46100
BRAFSerine/threonine-protein kinase B-rafDisease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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)

LOCALIZAÇÃO

NucleusCytoplasmCell membrane

VIAS BIOLÓGICAS (4)
Spry regulation of FGF signalingParadoxical activation of RAF signaling by kinase inactive BRAFARMS-mediated activationSignalling to p38 via RIT and RIN
OUTRAS DOENÇAS (18)
Noonan syndrome 7LEOPARD syndrome 3melanoma, cutaneous malignant, susceptibility to, 1lung cancer
HGNC:1097UniProt:P15056
TP53Cellular tumor antigen p53Disease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleusNucleus, PML bodyEndoplasmic reticulumMitochondrion matrixCytoplasm, cytoskeleton, microtubule organizing center, centrosome

VIAS BIOLÓGICAS (10)
TP53 Regulates Metabolic GenesRegulation of TP53 ExpressionRegulation of TP53 DegradationOncogene Induced SenescenceOxidative Stress Induced Senescence
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
73.0 TPM
Skin Sun Exposed Lower leg
37.0 TPM
Skin Not Sun Exposed Suprapubic
35.2 TPM
Fibroblastos
32.9 TPM
Ovário
32.4 TPM
OUTRAS DOENÇAS (29)
Li-Fraumeni syndromenasopharyngeal carcinoma, susceptibility to, 1hepatocellular carcinomafamilial pancreatic carcinoma
HGNC:11998UniProt:P04637
USP8Ubiquitin carboxyl-terminal hydrolase 8Disease-causing somatic mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

CytoplasmNucleusEndosome membraneCell membrane

VIAS BIOLÓGICAS (4)
Downregulation of ERBB2:ERBB3 signalingRegulation of FZD by ubiquitinationNegative regulation of MET activityUb-specific processing proteases
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
10.4 TPM
Linfócitos
9.2 TPM
Nervo tibial
9.1 TPM
Cervix Endocervix
8.7 TPM
Ovário
8.3 TPM
OUTRAS DOENÇAS (2)
Cushing disease due to pituitary adenomaautosomal recessive spastic paraplegia type 59
HGNC:12631UniProt:P40818

Variantes genéticas (ClinVar)

1,362 variantes patogênicas registradas no ClinVar.

🧬 CDH23: NM_022124.6(CDH23):c.5629G>A (p.Asp1877Asn) ()
🧬 CDH23: NM_022124.6(CDH23):c.9949G>A (p.Ala3317Thr) ()
🧬 CDH23: NM_022124.6(CDH23):c.1526del (p.Asp509fs) ()
🧬 CDH23: NM_022124.6(CDH23):c.3396C>T (p.Gly1132=) ()
🧬 CDH23: NM_022124.6(CDH23):c.1624G>T (p.Glu542Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

66 vias biológicas associadas aos genes desta condição.

Sensory processing of sound by inner hair cells of the cochlea Sensory processing of sound by outer hair cells of the cochlea Mitochondrial translation initiation Mitochondrial translation elongation Mitochondrial translation termination Mitochondrial ribosome-associated quality control Ub-specific processing proteases HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand Nuclear Receptor transcription pathway SUMOylation of intracellular receptors PTK6 Expression Regulation of RUNX2 expression and activity FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes Potential therapeutics for SARS Regulation of NPAS4 gene transcription Inhibition of DNA recombination at telomere Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations Spry regulation of FGF signaling Frs2-mediated activation ARMS-mediated activation Signalling to p38 via RIT and RIN RAF activation MAP2K and MAPK activation Negative feedback regulation of MAPK pathway Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF1 fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Signaling downstream of RAS mutants Signaling by RAF1 mutants SHOC2 M1731 mutant abolishes MRAS complex function Gain-of-function MRAS complexes activate RAF signaling Activation of NOXA and translocation to mitochondria Activation of PUMA and translocation to mitochondria Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Formation of Senescence-Associated Heterochromatin Foci (SAHF) Oncogene Induced Senescence DNA Damage/Telomere Stress Induced Senescence SUMOylation of transcription factors Autodegradation of the E3 ubiquitin ligase COP1 Association of TriC/CCT with target proteins during biosynthesis Pyroptosis TP53 Regulates Metabolic Genes Ovarian tumor domain proteases Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Interleukin-4 and Interleukin-13 signaling TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain TP53 Regulates Transcription of Caspase Activators and Caspases TP53 Regulates Transcription of Death Receptors and Ligands TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest Regulation of TP53 Expression Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Regulation of TP53 Activity through Methylation Downregulation of ERBB2:ERBB3 signaling Regulation of FZD by ubiquitination Negative regulation of MET activity

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.
3Fase 31
2Fase 25
1Fase 11
·Pré-clínico13
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 Cushing

🗺️

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

11 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

72 ensaios clínicos encontrados, 15 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
638 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 638

#1

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 America2026 Mar 10

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.

#2

Body Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.

The Journal of pediatrics2026 Mar

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.

#3

Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.

JCEM case reports2026 Mar

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.

#4

Cushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.

Journal of reproductive immunology2026 Mar

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.

#5

Osilodrostat for the treatment of Cushing syndrome: an update.

Expert review of endocrinology &amp; metabolism2026 Mar

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

Ver todas no PubMed

📚 EuropePMC728 artigos no totalmostrando 196

2026

Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.

JCEM case reports
2026

Cushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.

Journal of reproductive immunology
2026

Sex differences in the clinical presentation, management and long-term outcomes of pituitary tumors in children and adolescents.

Pituitary
2026

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

Osilodrostat for the treatment of Cushing syndrome: an update.

Expert review of endocrinology &amp; metabolism
2026

Cushing disease caused by ectopic sphenoid pituitary macroadenoma: a major interdisciplinary challenge in everyday clinical practice.

Polish archives of internal medicine
2026

Early postoperative LDDST enhances remission prediction beyond morning cortisol in cushing's disease.

Pituitary
2026

Prediction of remission in cushing's disease using artificial intelligence: A systematic review and meta-analysis.

Neurosurgical review
2026

Osilodrostat for Cyclic Cushing Disease.

AACE endocrinology and diabetes
2026

Cavernous Sinus Medial Wall Resection: A Retrospective Single-Institution Study on Outcomes in Functional Pituitary Adenomas.

Operative neurosurgery (Hagerstown, Md.)
2026

Safety and Effectiveness of Rivaroxaban Thromboprophylaxis in ACTH-dependent Cushing Syndrome.

The Journal of clinical endocrinology and metabolism
2025

Spectrum of Osteoporosis Etiologies with Associated Vertebral Compression Fractures in Children: Analysis of 11 Cases.

Journal of clinical medicine
2026

[Pheochromocytoma or Cushing's syndrome? About one case].

Annales de biologie clinique
2025

Glucocorticoid-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 Endocrinologists
2025

The surgical management of Cushing disease: a case series from a Canadian tertiary center.

Neurological research
2026

Crooke Cell Adenoma Presenting With Refractory Hypokalemia and Uncontrolled Hypertension.

JCEM case reports
2026

Multicenter 30-Year Data on the 4-Mg Intravenous Dexamethasone Suppression Test in the Diagnosis of Cushing Syndrome.

Journal of the Endocrine Society
2026

Disease Remission and Surgical Outcomes of Endoscopic Transsphenoidal Surgery for Cushing Disease: A Single Center Experience.

World neurosurgery
2026

Body Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.

The Journal of pediatrics
2025

Dual Hormonal Presentation in a Rare Sellar Gangliocytoma: Diagnostic and Pathological Insights from a Collision Tumor.

Journal of neurological surgery reports
2025

A Case of Adrenocorticotropin-dependent Cushing Syndrome with Osilodrostat Exposure in Early Pregnancy.

JCEM case reports
2025

Real-world osilodrostat effectiveness and safety in non-pituitary Cushing syndrome.

The Journal of clinical endocrinology and metabolism
2025

Medical Therapies of Cushing's Disease-Part 2.

Endocrinology and metabolism clinics of North America
2025

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.

Pituitary
2026

Prevalence 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 Endocrinologists
2025

Management of patients with Cushing's disease in the Gulf Region: a Delphi consensus recommendation.

Frontiers in endocrinology
2025

Comparison of Localization Methods in Cushing Disease-Could [11C]C-Methionine PET/CT Replace MRI or BIPSS?

Cancers
2025

Development and validation of clinical screening systems for Cushing disease in the United States.

Pituitary
2025

Enhanced Radiological Detection of a Corticotroph Adenoma Following Treatment With Osilodrostat.

JCEM case reports
2025

Cushing Disease Mimicking Ectopic Adrenocorticotropic Hormone-Secreting Disease.

AACE endocrinology and diabetes
2025

Using the Desmopressin Stimulation Test to Assess for Residual Tumor in Cushing Disease With Cyclic Hypercortisolism.

JCEM case reports
2025

Risk 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 Oncology
2025

Clinical presentation, predictive factors and management of patients with Nelson syndrome: a retrospective study.

Pituitary
2026

Overnight Dexamethasone Suppression Test: Enhanced Accuracy With Late-afternoon Cortisol and Morning/Late-afternoon ACTH.

The Journal of clinical endocrinology and metabolism
2026

Changing face of Cushing's disease over three decades in pituitary center.

Journal of endocrinological investigation
2025

Emergence of NEC features in corticotroph PitNETs: primary tumor, radiation-induced transformation, or metastasis?

Brain tumor pathology
2025

Blood steroid hormone profile and clinical outcomes following switching from metyrapone to osilodrostat in patients with Cushing disease.

Endocrine journal
2026

Systematic Cavernous Sinus Exploration Combined With Early Hormonal Assessment in Cushing Disease.

Neurosurgery
2025

The STUB1-TPIT axis regulates the secretion of adrenocorticotrophic hormone in cushing disease.

Journal of translational medicine
2025

Relapse of Cyclic Cushing Syndrome With a 19-Year Remission: Potential Involvement of COVID-19 in the Relapse.

JCEM case reports
2025

Prospective 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 Medicine
2025

Congress of Neurological Surgeons Systematic Review and Evidence-Based Guidelines for the Role of Medical Perioperative Management for Patients With Functioning Pituitary Adenomas.

Neurosurgery
2025

Seasonal elevation in equine adrenocorticotropic hormone occurs throughout the contiguous United States and is influenced by latitude and age.

Journal of the American Veterinary Medical Association
2025

Advances in the medical management of hypercortisolism: current strategies, monitoring, and emerging therapies.

Current opinion in endocrinology, diabetes, and obesity
2025

Long-term outcomes of pituitary radiotherapy and their predictive factors in childhood and adolescent-onset Cushing disease.

European journal of endocrinology
2025

Ectopic Cushing Syndrome due to Metastatic Medullary Thyroid Cancer.

AACE endocrinology and diabetes
2025

A Case of Spontaneously Resolving Cushing Disease.

JCEM case reports
2025

Case Report: Refractory hypokalemia as a clinical manifestation of Crooke's cell adenoma.

Frontiers in medicine
2025

Results for LINAC-based radiosurgery or fractionated stereotactic radiotherapy for corticotropic pituitary tumors: a single-center retrospective cohort.

Journal of endocrinological investigation
2025

Postoperative Considerations Following Pituitary Surgery: A Guide for Clinicians.

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

Exploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC-A Narrative Review.

International journal of molecular sciences
2025

Pituitary Photon-Counting Detector CT for Cushing Disease: Preoperative Lesion Localization, Intraoperative Findings, and Postoperative Outcomes.

AJNR. American journal of neuroradiology
2025

Diagnosis of Cushing's syndrome with generalized linear model and development of mobile application.

Medicine
2025

Genetic profiling of synchronous pituitary corticotroph adenomas.

Pituitary
2025

Endocrine Disorder: Advance in Understanding Diabetes and Obesity A Review.

Journal of pharmacy &amp; bioallied sciences
2025

miR-375 Regulation of SSTR2 Expression in Corticotroph Pituitary Cells: Somatostatin Receptor Ligands Effects.

Endocrinology
2025

The USP8 Mutational Status in Combination With Postsurgical Cortisol Levels for Predicting Recurrence of Cushing Disease.

The Journal of clinical endocrinology and metabolism
2025

Utility 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 Australasia
2025

Innovative Approaches to Improve the Success of Pituitary Surgery in Cushing's Disease: A Cost-Effectiveness Perspective.

Clinical endocrinology
2025

A Second Look at Cushing Disease: Hypercortisolism Recurrence From Another Gland.

JCEM case reports
2025

Prevalence, Treatment Patterns, and Characteristics of US Adults with Confirmed or at Risk for Growth Hormone Deficiency.

Advances in therapy
2025

The prevalence and predictors of Cushing disease recurrence: a 10-year experience of a pituitary tumor center of excellence.

Endocrine
2025

Epigenetic implications in the pathogenesis of corticotroph tumors.

Pituitary
2025

Osilodrostat Treatment of Cushing Syndrome in Real-World Clinical Practice: Findings From the ILLUSTRATE study.

Journal of the Endocrine Society
2025

ACTH-dependent Cyclic Cushing Syndrome With Successful Pregnancy and Early Postpartum Relapse.

JCEM case reports
2025

A Rare Case of ACTH-Secreting Pituitary Adenoma in a Pediatric Patient. Diagnosis and Management: Case Report and Literature Review.

Clinical case reports
2025

Genetic models of Cushing's disease : From cells, in vivo transgenic models to human pituitary organoids.

Pituitary
2025

Mortality in Cushing's syndrome: declining over 2 decades but remaining higher than the general population.

European journal of endocrinology
2025

Successful Medical Management of Cushing Disease With Metyrapone Throughout Pregnancy: A Report of 2 Cases.

JCEM case reports
2025

Osilodrostat Treatment for Adrenal and Ectopic Cushing Syndrome: Integration of Clinical Studies With Case Presentations.

Journal of the Endocrine Society
2025

Notable 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 USA
2025

Big data determination and validation of reference range for 24-h urine cortisol by liquid chromatography-mass spectrometry.

European journal of endocrinology
2025

Review of 7T MRI imaging of pituitary microadenomas: are we there yet?

Neuroradiology
2025

Clinical 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 neurosurgery
2025

Challenges in diagnosis and treatment of cushing disease in a 12-year-old boy. Case report.

La Pediatria medica e chirurgica : Medical and surgical pediatrics
2025

Treatment-resistant Cushing disease and acromegaly in a young woman: A case of functional pituitary macroadenoma.

Radiology case reports
2025

Avascular Necrosis in Patients With Cushing Syndrome.

JCEM case reports
2025

Recognition and Management of Ectopic ACTH Secreting Tumors.

Journal of the Endocrine Society
2025

A Case of Severe Cushing Syndrome due to Metastatic Adrenocortical Carcinoma Treated With Osilodrostat.

AACE clinical case reports
2025

Diagnostic Value of 11C-Methionine PET-CT Imaging in Persistent or Recurrent Cushing Disease After Surgery.

The Journal of clinical endocrinology and metabolism
2025

Impact of Frailty on Surgical Outcomes of Patients With Cushing Disease Using the Multicenter Registry of Adenomas of the Pituitary and Related Disorders Registry.

Neurosurgery
2025

Medical Treatment of Cushing's Syndrome.

Endocrinology and metabolism (Seoul, Korea)
2025

Letter: Predictors of Durable Remission After Successful Surgery for Cushing Disease: Results From the Multicenter RAPID Registry.

Neurosurgery
2025

Impaired cardiac pumping function and increased afterload as determinants of early hemodynamic alterations in Cushing disease.

Scientific reports
2025

Cushing Disease Clinical Phenotype and Tumor Behavior Vary With Age: Diagnostic and Perioperative Implications.

The Journal of clinical endocrinology and metabolism
2025

Desmopressin is a safe and effective secretagogue to replace corticotropin-releasing hormone in petrosal sinus sampling.

Annales d'endocrinologie
2025

Hormones synthesized by the adrenal reticulum protect bone density in premenopausal women with Cushing syndrome.

Bone
2025

Pituitary adenomas in children: surgical course and functional outcome. Lille cohort retrospective study.

Neuro-Chirurgie
2025

Approach to the Patient With Cyclical Cushing Syndrome.

The Journal of clinical endocrinology and metabolism
2025

From the perspective of a scientist with Cushing disease, what did not kill me made my science stronger.

Nature reviews. Endocrinology
2025

Bone 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 Endocrinologists
2024

Diagnostic Accuracy and Value of CXCR4-targeted PET/MRI Using 68Ga-Pentixafor for Tumor Localization in Cushing Disease.

Radiology
2024

Cushing Disease in a Patient with Double Pituitary Adenomas Complicated with Diabetes Insipidus: A Case Report.

Journal of the ASEAN Federation of Endocrine Societies
2024

Assessment of the initial results of pituitary tumor registry at a tertiary hospital of Iran: 2009-2022.

Journal of diabetes and metabolic disorders
2024

Improved 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 Society
2025

Characterization of a Novel Variant in the NR3C1 Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome.

The Journal of clinical endocrinology and metabolism
2024

Multilineage Pituitary Neuroendocrine Tumors Expressing TPIT and SF1: A Clinicopathological Series of Six Tumors.

Endocrine pathology
2025

Cushing-induced Male Hypogonadism: Deciphering a Prevalent Yet Understudied Relationship.

The Journal of clinical endocrinology and metabolism
2025

Contrast-Enhanced CISS/FIESTA Imaging for Increased Conspicuity of Pituitary Microadenomas in Cushing Disease.

AJNR. American journal of neuroradiology
2025

Partial adrenalectomy by the posterior retroperitoneoscopic approach: A single institution series of 766 consecutive procedures.

World journal of surgery
2024

Cushing's syndrome and COVID-19.

Pituitary
2024

Ectopic adrenocorticotrophic hormone syndrome in a 10-year-old girl with a thymic neuroendocrine tumor: a case report.

BMC endocrine disorders
2024

A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.

Cureus
2025

New Approaches to the Treatment of Hypercortisolism.

Annual review of medicine
2024

Cushing disease presenting with hypertension in association with nonfunctioning unilateral adrenal adenoma.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne
2025

Cushing syndrome in paediatric population: who and how to screen.

Journal of endocrinological investigation
2025

Initial 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, Inc
2024

Hypercoagulable state and risk of venous thromboembolism in Cushing syndrome.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2024

Predictors of Durable Remission After Successful Surgery for Cushing Disease: Results From the Multicenter RAPID Registry.

Neurosurgery
2025

PCSK1N as a Tumor Size Marker and an ER Stress Response Protein in Corticotroph Pituitary Adenomas.

The Journal of clinical endocrinology and metabolism
2024

Combined Endonasal and Transseptal Approach to Achieve Binostril Access in Endoscopic Skull Base Approaches to Minimize Nasal Morbidity: A Technical Note.

World neurosurgery
2024

Impaired 11β-HSD1 Activity in a Male Patient With Cushing Disease Resulting in Lack of the Full Cushingoid Phenotype.

JCEM case reports
2024

Unveiling the Uncommon: A Case Series on Cushing's Disease During Pregnancy.

Cureus
2024

The Elusive Search for the Ideal Pharmacological Treatment for Cushing Disease.

Endocrinology
2024

Pediatric Cushing Syndrome: a unique account of a rare but important condition.

Translational pediatrics
2024

Spontaneous Cushing's Disease Remission Induced by Pituitary Apoplexy.

Cureus
2024

For the Forthcoming Winning Shot in the Battle against Cushing Disease.

Endocrinology and metabolism (Seoul, Korea)
2024

Papillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome.

AACE clinical case reports
2024

Adrenocorticotropic Hormone Producing Pituitary Carcinoma in the Falx Cerebri, Retroclival Region, Ethmoidal Cells, and Other Locations.

Cureus
2024

High-throughput Screening for Cushing Disease: Therapeutic Potential of Thiostrepton via Cell Cycle Regulation.

Endocrinology
2024

Granulation Patterns of Functional Corticotroph Tumors Correlate with Tumor Size, Proliferative Activity, T2 Intensity-to-White Matter Ratio, and Postsurgical Early Biochemical Remission.

Endocrine pathology
2024

Multicenter Registry of Adenomas of the Pituitary and Related Disorders: Initial Description of Cushing Disease Cohort, Surgical Outcomes, and Surgeon Characteristics.

Neurosurgery
2025

Cushing Syndrome Is Associated With a Higher Risk of Cancer-A Nationwide Cohort Study.

The Journal of clinical endocrinology and metabolism
2024

Photon-Counting Detector CT Iodine Maps for Pituitary Adenoma in Cushing Disease.

AJR. American journal of roentgenology
2024

Prolonged Adrenal Insufficiency After Osilodrostat Exposure With Eventual Recovery of Adrenal Function.

JCEM case reports
2024

ACTH-dependent Cushing Syndrome with No Peripheral Response But a Marked Petrosal Sinus ACTH Response to Desmopressin.

JCEM case reports
2024

E-cadherin expression and gene expression profiles in corticotroph pituitary neuroendocrine tumor subtypes.

Journal of neuropathology and experimental neurology
2024

Clinicoradiological Parameters and Biochemical and Molecular Alterations Predicting Remission and Recurrence After Surgical Treatment of Corticotroph Adenomas-Cushing Disease.

World neurosurgery
2024

A long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours.

Clinical endocrinology
2024

Challenges in the postsurgical recovery of cushing syndrome: glucocorticoid withdrawal syndrome.

Frontiers in endocrinology
2024

Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors.

Journal of the Endocrine Society
2024

Double pituitary adenomas: report of two cases and systematic review of the literature.

Frontiers in endocrinology
2024

An objective way to predict remission and relapse in Cushing disease using Bayes' theorem of probability.

Journal of endocrinological investigation
2024

Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey.

Endocrine connections
2024

Analysis of brain structural covariance network in Cushing disease.

Heliyon
2024

From Knee Pain Consultation to Pituitary Surgery: The Challenge of Cushing Disease Diagnosis.

JCEM case reports
2024

Mesenchymal Stem Cells Induce an Immunosuppressive Microenvironment in Pituitary Tumors.

The Journal of clinical endocrinology and metabolism
2024

Bilateral Inferior Petrosal Sinus Sampling Without Lateralization Is Less Accurate for the Diagnosis of Cushing Disease.

Journal of the Endocrine Society
2024

[18F]FET PET/MRI: An Accurate Technique for Detection of Small Functional Pituitary Tumors.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine
2024

Infantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity.

JCEM case reports
2025

Machine Learning May Be an Alternative to BIPSS in the Differential Diagnosis of ACTH-dependent Cushing Syndrome.

The Journal of clinical endocrinology and metabolism
2024

Medium and Long-Term Data from a Series of 96 Endoscopic Transsphenoidal Surgeries for Cushing Disease.

Journal of Korean Neurosurgical Society
2024

7T MRI for Cushing Disease: A Single-Institution Experience and Literature Review.

AJNR. American journal of neuroradiology
2024

Accuracy of the 10 μg desmopressin test for differential diagnosis of Cushing syndrome: a systematic review and meta-analysis.

Frontiers in endocrinology
2024

Effects of the Cortisol Milieu on Tumor-Infiltrating Immune Cells in Corticotroph Tumors.

Endocrinology
2024

Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.

Nature reviews. Endocrinology
2024

Cushing Disease Psychosis Identified as Postoperative Psychosis.

Journal of the Academy of Consultation-Liaison Psychiatry
2024

Back to the Future: Dynamic Contrast-Enhanced Photon-Counting Detector CT for the Detection of Pituitary Adenoma in Cushing Disease.

AJNR. American journal of neuroradiology
2024

Consensus 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'endocrinologie
2024

Surveillance 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 Endocrinologists
2024

Paediatric Cushing syndrome: a prospective, multisite, observational cohort study.

The Lancet. Child &amp; adolescent health
2025

False-Negative Inferior Petrosal Sinus Sampling in Young-Onset Cushing Disease: What Happens Next.

Hormone research in paediatrics
2024

Inferior Petrosal Sinus Sampling Tumor Lateralization and the Surgical Treatment of Cushing Disease: A Meta-Analysis and Systematic Review.

World neurosurgery
2023

Efficacious Primary Pasireotide Therapy in a Case of a Large Invasive Adrenocorticotropin-secreting Pituitary Tumor.

JCEM case reports
2023

Pituitary Crooke Cell Adenoma: Two Cases of an Aggressive Pituitary Adenoma.

JCEM case reports
2023

Consecutive resections of double pituitary adenoma for resolution of Cushing disease: illustrative case.

Journal of neurosurgery. Case lessons
2024

Alternative Approach to BIPSS in the Differential Diagnosis of ACTH-Dependent Cushing Syndrome.

The Journal of clinical endocrinology and metabolism
2024

The utility of IGF1 in the evaluation of pediatric patients with endogenous hypercortisolemia.

Pediatric research
2023

High prevalence of vertebral fractures associated with preoperative cortisol levels in patients with recent diagnosis of Cushing disease.

Annals of medicine
2024

Letter: Toward Optimized and Cost-Efficient Protocols for Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing Disease.

Neurosurgery
2023

Genomics, Transcriptomics, and Epigenetics of Sporadic Pituitary Tumors.

Archives of medical research
2024

Commentary: 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.)
2023

Pituitary tumor registry: a multidisciplinary program protocol.

Journal of diabetes and metabolic disorders
2023

Radiation-induced Undifferentiated Malignant Pituitary Tumor After 5 Years of Treatment for Cushing Disease.

JCEM case reports
2023

Successful Management of Cushing Syndrome From Ectopic ACTH Secretion in an Adolescent With Osilodrostat.

JCEM case reports
2023

The patient's sex determines the hemodynamic profile in patients with Cushing disease.

Frontiers in endocrinology
2024

Angiographic cross-filling between inferior petrosal sinuses and alteration of adrenocorticotropic hormone sampling results for tumor localization in Cushing disease.

Journal of neurosurgery
2024

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.)
2023

Crooke Cell Adenoma Confers Poorer Endocrinological Outcomes Compared with Corticotroph Adenoma: Results of a Multicenter, International Analysis.

World neurosurgery
2023

Dental Considerations and Precautions Associated with Oral Excisional Biopsy on a Patient with Cushing's Syndrome (Hypercortisolism).

Dental clinics of North America
2024

Toward Optimized and Cost-Efficient Protocols for Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing Disease.

Neurosurgery
2023

Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors Unveils Intratumor Heterogeneity.

medRxiv : the preprint server for health sciences
2023

A Double-Headed Physiologic Monster: A Case Report and Literature Review.

Cureus
2023

Pituitary adenomas registry in Thailand.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2023

An individualized approach to the management of Cushing disease.

Nature reviews. Endocrinology
2023

Ovine CRH Stimulation and 8 mg Dexamethasone Suppression Tests in 323 Patients With ACTH-Dependent Cushing's Syndrome.

The Journal of clinical endocrinology and metabolism
2023

The clinicopathological features and prognosis of silent corticotroph tumors: an updated systematic review and meta-analysis.

Endocrine
2023

Recognition of Nonneoplastic Hypercortisolism in the Evaluation of Patients With Cushing Syndrome.

Journal of the Endocrine Society
2023

Cushing Syndrome: A Review.

JAMA
2023

Cushing's Disease Associated With Partially Empty Sella Turcica Syndrome: A Case Report.

Cureus
2023

Pulmonary embolism after delivery as the first manifestation of Cushing disease in pregnancy.

Polish archives of internal medicine
2023

Subtotal gland resection for MR negative Cushing disease with no detectable tumor on gland exploration: operative video.

Neurosurgical focus: Video
2023

Nasal and Sellar Anatomic Variations in Pituitary-Dependent Cushing Disease.

The Journal of craniofacial surgery
2023

Alcohol-induced Cushing syndrome: report of eight cases and review of the literature.

Frontiers in endocrinology
2023

Cushing disease in pediatrics: an update.

Annals of pediatric endocrinology &amp; metabolism
2023

Synchronous Posterior and Anterior Pituitary Tumors: A Case Report of a Hypothetic Paracrine Relationship.

Asian journal of neurosurgery
2023

The utility of PET for detecting corticotropinomas in Cushing disease: a scoping review.

Neurosurgical review
2023

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.

Frontiers in endocrinology
2024

Erythropoiesis in Cushing syndrome: sex-related and subtype-specific differences. Results from a monocentric study.

Journal of endocrinological investigation
2023

Postoperative Serum Cortisol and Cushing Disease Recurrence in Patients With Corticotroph Adenomas.

The Journal of clinical endocrinology and metabolism
2023

Outcomes of Endoscopic Transsphenoidal Approach for More Aggressive Pediatric Pituitary Adenomas: Early- and Late-Term Results from a Single Center Experience.

World neurosurgery
2023

Distinct serum steroid profiles between adrenal Cushing syndrome and Cushing disease.

Frontiers in endocrinology
2023

Exploratory Study of the Association of Genetic Factors With Recovery of Adrenal Function in Cushing Disease.

Journal of the Endocrine Society
2023

Neurosurgical aspects and clinical outcomes on the treatment of Cushing disease in pediatric patients: Case series and literature review.

Surgical neurology international
2023

Evidence of Persistent Mild Hypercortisolism in Patients Medically Treated for Cushing Disease: the Haircush Study.

The Journal of clinical endocrinology and metabolism
2023

Nelson 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 Obstetrics
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Doenças relacionadas

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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.

  1. 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
  2. Body Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.
    The Journal of pediatrics· 2026· PMID 41349930mais citado
  3. Early hypocortisolism with persistent remission following osilodrostat in a patient with long-standing Cushing disease.
    JCEM case reports· 2026· PMID 41858510mais citado
  4. Cushing's disease and autoimmune thyroid disorders in women: Impacts on fertility, pregnancy, and menopause.
    Journal of reproductive immunology· 2026· PMID 41793937mais citado
  5. Osilodrostat for the treatment of Cushing syndrome: an update.
    Expert review of endocrinology &amp; metabolism· 2026· PMID 41716050mais citado
  6. Vertebral fractures may occur early in the history of Cushing disease associating with male gender and degree of cortisol secretion.
    Pituitary· 2026· PMID 41984110recente
  7. Late recurrence of Cushing disease with ubiquitin-specific protease 8 mutation 19 years after initial surgery.
    JCEM Case Rep· 2026· PMID 41971637recente
  8. The Modern Presentation, Etiology, and Rate of Occurrence of Cushing Syndrome Differs when Compared to Prior Population-Based Studies.
    AACE Endocrinol Diabetes· 2026· PMID 41938295recente
  9. Symptom management with osilodrostat in multiple endocrine neoplasia type 1 with a Cushing syndrome presentation.
    JCEM Case Rep· 2026· PMID 41924515recente
  10. Persistent remission after steroidogenesis inhibitor discontinuation in Cushing disease: a case series.
    Pituitary· 2026· PMID 41920365recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:96253(Orphanet)
  2. OMIM OMIM:219090(OMIM)
  3. MONDO:0009050(MONDO)
  4. GARD:12867(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Doença Cushing
Compêndio · Raras BR

Doença Cushing

ORPHA:96253 · MONDO:0009050
Prevalência
1-9 / 100 000
Herança
Not applicable
CID-10
E24.0 · Síndrome de Cushing dependente da hipófise
CID-11
Ensaios
15 ativos
Início
Adult
Prevalência
4.0 (Europe)
MedGen
UMLS
C0221406
EuropePMC
Wikidata
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