Introdução
O que você precisa saber de cara
Craniossinostose, uma condição em que as suturas da cabeça se fundem prematuramente e, consequentemente, alteram o formato da cabeça, é observada em diversas condições, conforme listado abaixo. O nível de envolvimento varia de acordo com a condição e pode ir de uma craniossinostose menor, de sutura única, a uma craniossinostose maior, multissutural.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 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
2 genes identificados com associação a esta condição.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is
Cell membraneGolgi apparatusCytoplasmic vesicleSecreted
Crouzon syndrome
An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5
Endoplasmic reticulum membrane
Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis
A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.
Variantes genéticas (ClinVar)
308 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
18 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 Antley-Bixler sem anomalias genitais ou distúrbio da gênese dos esteroides
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Antley-Bixler sem anomalias genitais ou distúrbio da gênese dos esteroides
Centros para Síndrome Antley-Bixler sem anomalias genitais ou distúrbio da gênese dos esteroides
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Ectopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.
Prostate cancer (PCa) is the most common male cancer and the second leading cause of cancer death in men. Androgen deprivation therapy (ADT) has been widely used as the first-line treatment for PCa. However, most PCa will progress to castration-resistant PCa (CRPC) that resists ADT 1 to 3 years after the treatment. Steroidogenesis from cholesterol is one of the mechanisms leading to ADT resistance. In PCa cells, low-density lipoprotein (LDL) mediated uptake is the major venue to acquire cholesterol. However, the mechanism of regulating this process is not fully understood. Fibroblast growth factor receptor 1 (FGFR1) is a receptor tyrosine kinase (RTK) that is ectopically expressed in PCa cells and promotes PCa progression by activating downstream signaling pathways. To comprehensively determine the roles of FGFR1 in PCa, we generated FGFR1-null DU145 cells and compared the transcriptomes of FGFR1-null and wild-type cells. We found that ablation of FGFR1 reduced the expression of genes promoting LDL uptake and de novo synthesis of cholesterol, thereby reducing the overall cholesterol pool in PCa cells. Detailed mechanistic studies further revealed that FGFR1 boosted the activation of sterol regulatory element-binding protein 2 (SREBP2) through ERK-dependent phosphorylation and cleavage, which, in turn, increased the expression of low-density lipoprotein receptor (LDLR) and enzymes involved in de novo cholesterol synthesis. Furthermore, in silico analyses demonstrated that high expression of FGFR1 was associated with high LDLR expression and clinicopathological features in PCa. Collectively, our data unveiled a previously unrecognized therapeutic avenue for CRPC by targeting FGFR1-driven cholesterol uptake and de novo synthesis.
Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
Endocrine-disrupting chemicals (EDCs), including bisphenol A (BPA), phthalates, organochlorine pesticides, and heavy metal ions, pose serious threats to reproductive health by interfering with hormonal balance and molecular signaling pathways. Recent research had expanded our understanding of these compounds has beyond their traditional role in hormone receptor interference. EDCs can trigger lasting epigenetic changes, including abnormal DNA methylation, histone modifications, RNA methylation, and altered regulation of non-coding RNA, which can impair reproductive functions such as gametogenesis, folliculogenesis, steroidogenesis, and embryo implantation. Importantly, EDC-mediated epigenetic alterations have been linked to various reproductive disorders, including polycystic ovary syndrome (PCOS), endometriosis, reduced ovarian reserve, and impaired spermatogenesis. For example, BPA exposure alters DNA methylation in estrogen signaling and aromatase gene expression, whereas phthalates disrupt histone acetylation and methylation in hormone synthesis pathways. Similarly, pesticides and heavy metal ions may influence microRNA expression and histone structure, further disrupting endocrine-regulated gene networks. These alterations may occur during sensitive developmental windows and can lead to long-term or transgenerational effects on reproductive health. Understanding how EDCs exert their toxicity through epigenetic mechanisms is essential for early detection of exposure, identification of molecular biomarkers, and development of targeted therapies to reduce reproductive risks. Here, we discuss the emerging molecular evidence that provides a comprehensive overview of how EDCs impair reproductive health through epigenetic pathways, thereby offering a framework for future research and translational applications.
Clinical features, investigation, and management of Addison's disease.
Addison's disease is the manifestation of adrenal glucocorticoid and mineralocorticoid deficiency from T-cell mediated destruction of the adrenal cortex, and is the commonest cause of primary adrenal insufficiency in adults. Due to its vague presentation, diagnosis of Addison's disease is often delayed, and in some cases, individuals present in adrenal crisis. Despite the use of corticosteroid replacement therapy, people with Addison's disease have increased mortality and reduced quality of life. Multiple features are thought to contribute to these outcomes, including inadequacy of adrenal crisis management and the inability of existing therapies to mimic circadian and ultradian rhythms of cortisol release. Current research strategies focus on understanding social and behavioural factors that contribute to adrenal crises, developing therapies that more closely mimic rhythms of physiological cortisol secretion, and developing interventions to restore adrenal steroidogenesis. This Review discusses the clinical features, investigation, and management of Addison's disease.
Effect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.
Treatment for patients with bilateral adrenal tumours and cortisol excess is not standardised and poses a therapeutic dilemma. Untreated cortisol excess is associated with cardiometabolic morbidity and mortality, but bilateral adrenalectomy causes adrenal insufficiency and possibly life-threatening adrenal crises. Data on cardiovascular outcomes by treatment modality are scarce. In this study we aimed to evaluate mid-term and long-term clinical and biochemical outcomes in patients with bilateral adrenal tumours and cortisol excess by treatment strategy and diagnosis. This retrospective, international cohort study (in 30 centres across 10 countries in Europe plus Singapore and the USA) included patients with bilateral adrenal tumours of 10 mm or larger, post-dexamethasone serum cortisol concentration of 50 nmol/L or higher, and at least 36 months of follow-up, with data collection beween Feb 2, 2024, and Jan 31, 2025. Patients were excluded if they had adrenocorticotropin hormone (ACTH)-dependent cortisol excess, ACTH-dependent nodular adrenal hyperplasia, partial glucocorticoid resistance syndrome, a diagnosis inconsistent with benign adrenocortical lesions, or received systemic oral or intravenous glucocorticoids other than replacement therapy following adrenalectomy. Primary endpoints were all-cause mortality and clinical and biochemical remission rates. Secondary endpoints were the incidence of cardiovascular events, prevalence of vascular and metabolic comorbidities, and incidence of adrenal crises. Of 629 patients who were diagnosed between Jan 1, 2000, and Jan 31, 2022, 105 (17%) had Cushing's syndrome and 524 (83%) had mild autonomous cortisol secretion (MACS), median age was 62 years (IQR 54·0-68·0), and 426 (68%) were female. 85 (81%) of 105 patients with Cushing's syndrome underwent surgery, and 384 (73%) of 524 patients with MACS received non-specific symptomatic treatment (ie, never underwent adrenalectomy or received steroidogenesis inhibitors). Over a median follow-up of 6·8 years, biochemical remission was achieved in 46 (45%) of 102 patients with Cushing's syndrome and in 67 (13%) of 517 patients with MACS. In both groups, 7% of patients died (Cushing's syndrome: seven of 105; MACS: 38 of 524) and 12% (13 of 105) of patients with Cushing's syndrome and 16% (82 of 524) of those with MACS had at least one cardiovascular event, without substantial differences across treatments. Smoking emerged as key modifiable mortality and cardiovascular risk factor in all patients, and in patients with MACS who only received non-specific symptomatic therapy, post-dexamethasone cortisol was also associated with increased mortality. Bilateral adrenalectomy led to full biochemical remission, few non-fatal adrenal crises, and improved arterial hypertension. Unilateral adrenalectomy and steroidogenesis inhibitors yielded heterogeneous biochemical outcomes and no substantial comorbidity improvement. Non-specific symptomatic treatment in MACS was associated with worsening of all investigated comorbidities. Although mortality and cardiovascular event rates were similar across treatments, surgery led to better biochemical control and more favourable comorbidity outcomes. None.
MSI2 expression in single vs. double dominant follicles and its role in Mongolian sheep fecundity.
Musashi 2 (MSI2), a conserved RNA-binding protein, is important in mammalian sperm and follicle development. Its function in Mongolian sheep, however, remains unclear. We investigated the differential expression of MSI2 in single and double dominant follicles of Mongolian sheep and its role in prolificacy. Sixty 7-month-old Mongolian ewes in estrus were studied. The results showed that MSI2 was expressed in Mongolian sheep ovarian granulosa cells, and the mRNA and protein expression levels of MSI2 were significantly higher in single dominant follicles than in double dominant follicles. There were 3400 DEGs in the single and double dominant follicles of Mongolian sheep, which were mainly enriched in steroidogenesis, TGF-β, and estrogen signaling pathways; based on PPI analysis, further studies were conducted on CYP17A1, ERβ, StAR, and 3β-HSD that interact with MSI2. It has been confirmed that they are coexpressed in Mongolian sheep ovarian granulosa cells. The mRNA and protein expression levels of MSI2 and CYP17A1 in double dominant follicles were significantly lower than those in single dominant follicles, with a significant positive correlation. In contrast, 3β-HSD, StAR, and ERβ were more highly expressed in double follicles, correlating negatively with MSI2. It is speculated that reduced expression of MSI2 and CYP17A1 in double dominant follicles promotes the expression of StAR, 3β-HSD, and ERβ, thereby facilitating the formation of double dominant follicles in Mongolian sheep. This study confirms that MSI2 may serve as an essential regulatory factor for Mongolian sheep multiparity trait, providing a theoretical basis for further research on the trait.
Publicações recentes
Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.
Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis.
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
[A case of Antley-Bixler syndrome caused by novel POR mutations].
📚 EuropePMCmostrando 200
Ursolic acid, a pentacyclic triterpene from Ochrosia elliptica Labill leaves and its role in the management of polycystic ovary syndrome (PCOS).
InflammopharmacologyLong-term 3D culture of human cumulus granulosa cell spheroids in PEGylated fibrin: a preclinical model for reproduction and ovarian research.
Journal of ovarian researchL-carnitine improves polycystic ovary syndrome by increasing CYP11A1, estrogen receptor, and decreasing XNIP and VEGF expression.
Naunyn-Schmiedeberg's archives of pharmacologyNeurosteroids in Neurological and Psychiatric Disorders: Therapeutic Implications.
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Experimental eye researchEndocrine modulation of inflammation: the role of adrenocorticotropic hormone and cortisol.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsInternational Real-world study on osilodrostat efficacy and safety in adrenal Cushing syndrome.
The Journal of clinical endocrinology and metabolismcAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
Frontiers in endocrinologyFemale reproductive toxicity of chronic exposure to perfluorohexane sulfonate (PFHxS) under the confounding factor of dietary protein deficiency.
Reproductive toxicology (Elmsford, N.Y.)Mitochondrial open reading frame of the 12S rRNA type-c (MOTS-c) primes adrenal cortex metabolism without directly driving steroidogenesis.
Folia histochemica et cytobiologicaPrimary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report.
Journal of clinical research in pediatric endocrinologyCase Report: Paradoxical responses to pasireotide in a patient with a silent corticotroph adenoma that transformed into an ACTH-secreting adenoma.
Frontiers in oncologyOvarian Rev-erbα: a central regulator of fertility following chronodisruption.
Frontiers in endocrinologyThe β2-adrenoceptor agonist formoterol attenuates hallmarks of adrenal Cushing's syndrome.
British journal of pharmacologyThe Intimate Relationship between Adipose Tissue, Fertility, and Bone.
Journal of frailty, sarcopenia and fallsCircadian rhythm disruption induces PCOS-like phenotypes by interfering with ovarian steroid hormone synthesis pathways.
The Journal of steroid biochemistry and molecular biologyPuerarin restores testicular steroidogenesis via VDR-cyclic AMP/PKA signaling in a chronic unpredictable stress (CUS) rat model.
The Journal of steroid biochemistry and molecular biologyEndometriomas are heterogeneous for functional FSH receptor expression and steroidogenic function.
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Life (Basel, Switzerland)The Role and Mechanisms of miRNAs on Ovarian Granulosa Cells: A Literature Review.
GenesKaempferol ameliorates PCOS by alleviating metabolic and endocrine abnormalities as well as oxidative stress.
SteroidsLacticaseibacillus rhamnosus DACN152 effectively ameliorated letrozole-induced polycystic ovary syndrome: sex hormone homeostasis, microbiota and metabolite profiles.
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Reproductive biology and endocrinology : RB&EIntegrative bioinformatics, single-cell and experimental evidence for a BPA-m6A-apoptosis axis in granulosa cell dysfunction in polycystic ovary syndrome.
Journal of ovarian researchErgothioneine rescues obesity-induced testicular dysfunction via dual restoration of steroidogenesis and mitochondrial redox homeostasis.
Redox biologyMetabolic hubs in reproduction: The regulatory network of lipid droplets in gamete and embryo physiology (Review).
International journal of molecular medicineRestoring NAD⁺-Sirtuins Signaling: A Novel Approach to Combat Male Reproductive Aging.
The world journal of men's healthQuality of Life in Children With Congenital Adrenal Hyperplasia: A Tertiary-Center Case-Control Study.
Clinical endocrinologyGenetic insights into hypospadias in the Taiwanese population: A whole-exome sequencing study in a single center.
Journal of pediatric surgeryExercise attenuates polycystic ovary syndrome development via improved mitochondrial proteostasis.
American journal of physiology. Endocrinology and metabolismEctopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.
International journal of molecular sciencesCircular RNA ciR-02852: A novel physiological inhibitor of Porcine ovarian granulosa cell functions.
Molecular biology reports[Non-classic lipoid adrenal hyperplasia: clinical cases report].
Problemy endokrinologiiMethyl ester sulfonate suppresses leydig cell steroidogenesis by targeting the GATA2/TGF-β1/SMAD signaling axis.
Ecotoxicology and environmental safetyEpigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
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The lancet. Diabetes & endocrinologyAmelioration of polycystic ovarian morphology by Tokishakuyakusan in a PCOS rat model: association with bone morphogenetic protein 4.
Frontiers in endocrinologyEffect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.
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Proceedings of the National Academy of Sciences of the United States of AmericaTraumatic brain injury and post-injury sleep fragmentation differentially alter the microglial transcriptome.
Frontiers in immunologyTianjing Zelan formula improves polycystic ovary syndrome by regulating steroid biosynthesis and arachidonic acid metabolism.
Journal of ethnopharmacologyAdrenal tumors in the elderly.
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Case reports in endocrinologyUpdate and practical recommendations for the use of medical treatment of Cushing´s syndrome.
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CellsIGF-1R Antagonism in Thyroid Eye Disease and Female Reproductive Function.
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Molecular and cellular endocrinologyTraditional formulation-Vanari Gutika treatment improves the testosterone biosynthesis and sperm quality in adult male mice.
Journal of complementary & integrative medicineEndoplasmic reticulum stress and steroidogenic dysfunction in Leydig cells: Molecular mechanisms of UPR-mediated testosterone regulation.
SteroidsAdrenal Cortical Steroidogenic Enzyme Expression is Associated with Hypertension, Obesity and Corticosteroid Use: A Tissue Microarray Study of Human Adrenal Tissue.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeVitamin D co-administration mitigates testicular and sperm dysfunction in high fat diet- induced obese mouse model.
The Journal of steroid biochemistry and molecular biologyOviductus Ranae alleviates D-galactose-induced ovarian aging by inhibiting ferroptosis and regulating the GPX4/ACSL4 pathway.
Journal of ovarian researchClinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review.
Medicina (Kaunas, Lithuania)The Role of Cytokines in the Development and Functioning of the Hypothalamic-Pituitary-Gonadal Axis in Mammals in Normal and Pathological Conditions.
International journal of molecular sciencesParthenolide Restores Testosterone Biosynthesis After Nanoplastic Exposure by Blocking ROS-Driven NF-κB Nuclear Translocation.
Antioxidants (Basel, Switzerland)Molecular mechanisms of ovarian fibrosis.
Molecular human reproduction[Cogitum in the treatment of mental disorders in childhood].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaPartial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.
Reports (MDPI)MicroRNAs Regulating Oxidative Stress in Human Fertility: A Narrative Review of Mechanistic Insights and Clinical Potential.
Medical sciences (Basel, Switzerland)PERINATAL ORGANOPHOSPHATE FLAME RETARDANT EXPOSURE ALTERS ADULT HPA AXIS FUNCTION AND AVOIDANCE BEHAVIOR IN A SEX-SPECIFIC MANNER IN MICE.
bioRxiv : the preprint server for biologyPolystyrene microplastics-induced gut microbiota dysbiosis with altered short chain fatty acid is associated with reproductive physiology and endocrine disorder in female zebrafish.
Journal of hazardous materialsIntratracheal perfluorooctane sulfonate induces pulmonary injury via TLRs signaling and disrupts sex steroidogenesis through systemic translocation.
Environmental pollution (Barking, Essex : 1987)Exploring the therapeutic potential of phytochemicals apigenin and ellagic acid in managing polycystic ovarian syndrome and its comorbidities: a comprehensive review.
Frontiers in endocrinologyLipopolysaccharide endotoxin triggers inflammatory responses that disrupt granulosa cell function and alter cell growth dynamics.
Reproductive toxicology (Elmsford, N.Y.)Transcriptomic, artificial neural network and Chou-Talalay analysis based investigation of potential mechanism and active components of Qi-Lin pill in treating diminished ovarian reserve.
Journal of ethnopharmacologySingle-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency.
Journal of clinical research in pediatric endocrinologyFerredoxins: master regulators in mitochondrial redox homeostasis and programmed cell death.
Redox biologyPancreastatin inhibitor PSTi8 alleviates insulin resistance and ovarian dysfunction in a dehydroepiandrosterone-high-fat diet rat model of polycystic ovary syndrome.
The Journal of pharmacology and experimental therapeuticsGenistein mitigates ovarian dysfunction in a PCOS mouse model by regulating steroidogenesis, apoptosis, and PARP-1 signaling.
Reproduction, fertility, and developmentMiR-23a represses CELF1 to modulate buffalo granulosa cell apoptosis and steroidogenesis via the PI3K/AKT pathway.
Animal reproduction scienceOverexpression of renin-angiotensin system peptides and receptors (OVRAS) in androgen-induced PCOS mouse ovaries.
Journal of assisted reproduction and geneticsUp-regulated WNT5A in PCOS affects steroidogenesis, proliferation and apoptosis of granulosa cells through the PI3K/AKT pathway.
Journal of ovarian researchTargeted Analysis of Placental Steroid Hormones in Relation to Maternal Tobacco Smoke Exposure: Early Markers Relevant to DOHaD (Developmental Origins of Health and Disease).
International journal of molecular sciencesNon-surgical sterilization of male animals using sclerosing agents: A systematic review of intratesticular and intraepididymal injection protocols.
Reproductive biologyTargeted editing of the 21-hydroxylase locus confers durable therapeutic effect in a murine model of congenital adrenal hyperplasia.
Molecular therapy : the journal of the American Society of Gene TherapyFemale Mice with HSD17B1 Inactivation Show Mild Hyperandrogenism without Notable Impact on Reproductive Function or Bone.
EndocrinologyLiver impairment and medical management of Cushing syndrome and MACS.
Frontiers in endocrinologyHeat stress and human reproduction: effects and pathogenesis.
Journal of thermal biologyThe role of the pentose phosphate pathway in the development of metabolic disorders in the testes during rat intoxication with cypermethrin.
Reproductive toxicology (Elmsford, N.Y.)Rapamycin and parenteral administration attenuate the harmful effects of glucocorticoids on the intestinal barrier function.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieThe ExPAND Study: A Prospective Association Study into Endometriosis-Associated Pain, Neurosteroid Synthesis, and TRPM3.
BiomoleculesQuercetin-loaded mesenchymal stem cell derived extracellular vesicles enhance ovarian function in a cyclophosphamide induced ovarian damage.
Journal of ovarian researchJiao-tai-wan and its component coptisine attenuate PCOS by regulating mitochondrial cholesterol import through suppression of SIRT1 ubiquitination.
Phytomedicine : international journal of phytotherapy and phytopharmacologyMeasurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.
Journal of mass spectrometry and advances in the clinical labMedical Therapies of Cushing's Disease-Part 1.
Endocrinology and metabolism clinics of North AmericaSuccess of 177Lu-DOTATATE therapy in a metastatic pituitary neuroendocrine tumor.
Endocrine oncology (Bristol, England)The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.
Development & reproductionManagement of patients with Cushing's disease in the Gulf Region: a Delphi consensus recommendation.
Frontiers in endocrinologyDiagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.
Frontiers in endocrinologyCholesterol metabolism: molecular mechanisms, biological functions, diseases, and therapeutic targets.
Molecular biomedicineOsilodrostat-associated Adrenal Gland Shrinkage: A Case Series of Patients With ACTH-dependent Cushing's Syndrome.
The Journal of clinical endocrinology and metabolismOsilodrostat dose impact on efficacy/safety in Cushing's disease: large, pooled analysis of LINC 2, 3, and 4.
European journal of endocrinologyUpdate in the Management of ACTH-Secreting Gastroenteropancreatic and Thoracic Neuroendocrine Neoplasms.
Current treatment options in oncologyThe Current Treatment Landscape for Congenital Adrenal Hyperplasia.
DrugsDisrupted rhythms and dysfunction: A chronobiological perspective on polycystic ovary syndrome.
Pathology, research and practiceProlonged adrenal suppression after osilodrostat discontinuation in a patient with Cushing's disease with eventual hypercortisolism relapse: Case Report and literature review.
Frontiers in medicineInhibition of 14-3-3 protein enhances steroid hormone production and oxidative stress in mouse ovary: Implications for apoptosis regulation.
The Journal of steroid biochemistry and molecular biology[Dilated cardiomyopathy in a patient with Cushing's disease - clinical presentation, diagnosis and treatment: a case report].
Problemy endokrinologiiGenetic variants (LhcgrW495X/+) and environmental toxicants (DEHP) synergistically induce DSD by interfering with steroidogenic gene expression.
Biology of sex differencesEffects of Gossypol Exposure on Ovarian Reserve Function: Comprehensive Risk Assessment Based on TRAEC Strategy.
ToxicsA Pharmacological Dose of Liraglutide Improves Mitochondrial Performance in Mouse Leydig Cells.
International journal of molecular sciencesMorphological and Transcriptomic Analyses of the Adrenal Gland in Acomys cahirinus: A Novel Model for Murine Adrenal Physiology.
CellsObesity in reproduction: Mechanisms from fertilization to post‑uterine development (Review).
International journal of molecular medicineA DESCRIPTION OF ADDISON'S DISEASE, AND ITS NEUROPSYCHIATRIC MANIFESTATIONS COMPARING THE DISEASE AS IT IS NOW TO THE DISEASE AS EXPERIENCED BY SAINT ELIZABETH OF THE TRINITY IN 1906.
Psychiatria DanubinaSerum steroid metabolome dynamics in infancy: a longitudinal cohort study of healthy infants.
European journal of endocrinologyA preliminary model to tailor osilodrostat in patients with Adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome.
European journal of endocrinologyPhenotypic variations in polycystic ovary syndrome: metabolic risks and emerging biomarkers.
The Journal of endocrinologyPerinatal neurodevelopmental effects of endocrine disruptors: Insights from metabolome mapping in the rat hippocampus.
ToxicologyInhibiting the fructose transporter GLUT5 boosts testosterone production in a murine mLTC-1 leydig cell line.
Molecular and cellular endocrinologyQuercetin-cyclodextrin combination effects on cytochrome P450 genes, oxidative stress and ovarian function in PCOS rats.
SteroidsExperience with the Mixed Meal Test in Diagnosing GIP-Dependent Cortisol Hypersecretion at a Tertiary Center.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes AssociationThe effect of neonicotinoid insecticides and triazole fungicides on prostate cancer progression via CYP enzymes, miRNAs, and TF-mediated disruption of steroidogenesis: An integrated in silico approach.
Toxicology and industrial healthPOLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).
Reproduction (Cambridge, England)Blood steroid hormone profile and clinical outcomes following switching from metyrapone to osilodrostat in patients with Cushing disease.
Endocrine journalNEGR1 deficiency disrupts lipid metabolism and steroidogenesis in Leydig cells, linking testosterone to behavior.
Journal of lipid researchThe role of the aryl hydrocarbon receptor in ovarian development, function, xenobiotic metabolism, and disease†.
Biology of reproductionInterplay of Oxidative Stress, Autophagy, and Rubicon in Ovarian Follicle Dynamics: Orchestrating Ovarian Aging.
Antioxidants (Basel, Switzerland)N6-Methyladenosine RNA Methylation: A Key Regulator in Male Reproductive Disorders and Urological Cancers.
The world journal of men's healthMacrophages in the male genital tract.
Biomedical journalNonclassical Congenital Adrenal Hyperplasia Presenting With Isolated Hirsutism in a Young Adult: A Case Report.
CureusRelapse of Cyclic Cushing Syndrome With a 19-Year Remission: Potential Involvement of COVID-19 in the Relapse.
JCEM case reportsHypoxia inducible factor 1α-driven steroidogenesis impacts systemic hematopoiesis.
Cellular & molecular biology lettersTranscriptional imprints of prenatal stress: sex- and time-specific signatures in early neurodevelopment.
Brain, behavior, and immunityDiagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD).
Clinical endocrinologyRegulation of oxytocin receptor by zinc coumarin derivatives: a mechanistic approach to alleviate anxiety and enhance folliculogenesis in letrozole-induced PCOS in zebrafish model.
Computational biology and chemistryReactivating Circadian Rhythms as a Therapeutic Strategy: Insights from Basic Research.
Biological & pharmaceutical bulletinRegulatory RNA Networks in Ovarian Follicular Cysts in Dairy Cows: Implications for Human Polycystic Ovary Syndrome.
GenesRole of AMP-Activated Protein Kinase (AMPK) in Female Reproduction: A Review.
International journal of molecular sciencesAdrenal Dysfunction in Outpatients with Decompensated Cirrhosis: Impairment in the Hypothalamic-Pituitary-Adrenal Axis.
Digestive diseases and sciencesSynthetic microneurotrophins: Neurotrophin receptors for therapeutics of neurodegenerative diseases.
British journal of pharmacologyLong-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.
Frontiers in pediatricsBroader impact and outcome of human NR5A1/SF1 variants.
Best practice & research. Clinical endocrinology & metabolismPrenatal caffeine exposure contributes to adrenal dysfunction of progeny for sex-specific and its 11β-hydroxysteroid dehydrogenase system intrauterine programming mechanism.
Chemico-biological interactionsManagement of Osilodrostat Therapy in Patients With Cushing's Syndrome: A Modified Delphi Consensus Panel.
Journal of the Endocrine SocietyMechanisms underlying methamphetamine-induced disruption of testicular integrity.
Naunyn-Schmiedeberg's archives of pharmacologyAdropin mitigates reproductive and metabolic dysfunctions in streptozotocin induced hyperglycemic mice.
The Journal of endocrinologyNormalization strategies in neonatal steroid metabolomics: a comparative analysis of probabilistic quotient and peer group approaches.
Endokrynologia PolskaAndrogen Receptor Signalling in Prostate Cancer: Mechanisms of Resistance to Endocrine Therapies.
Research and reports in urologyGenetic profiling of synchronous pituitary corticotroph adenomas.
PituitaryMechanistic insight into nanomedicine for polycystic ovary syndrome.
Molecular biology reportsFermented Morinda citrifolia extract improves late-onset hypogonadism in aged rats.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieUnexpected discrepancies between steroid intra-tissular content in adrenal tumors and clinical diagnosis of steroid excess.
European journal of endocrinologyH3K9me3 Involved in FOXL2 Regulation of SerpinE2 Expression to Affect Steroid Hormone Synthesis in Follicular Granulosa Cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyApricot Bee Pollen Alleviates Deoxynivalenol-Induced Cellular Toxicity in Bovine Granulosa Cells.
Animals : an open access journal from MDPISARS-CoV-2 exploits steroidogenic machinery, triggers lipid metabolism for viral replication and induces immune response in Leydig cells of K18-hACE2 mice.
Frontiers in cellular and infection microbiologyGenome-wide association study and enrichment analysis for clinical health traits in Holstein-Friesian cattle.
Animal : an international journal of animal bioscienceCoproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.
The Journal of clinical endocrinology and metabolismPerfluorooctane sulfonate exposure disrupts steroid hormone synthesis in rats via the gut-metabolism-testis axis.
Environmental pollution (Barking, Essex : 1987)HFPO homologues, the novel alternatives to PFOA, impair male reproduction in mice through inducing mitochondrial dysfunction.
Ecotoxicology and environmental safetyMetabolomic fingerprints of clustered preterm and term neonates - a pilot study.
Frontiers in endocrinologyAcquired 11β-Hydroxylase deficiency in etomidate and (Iso)propoxate abusers: A nascent endocrine condition.
SteroidsThe Potential Role of Matrix Metalloproteinase in Polycystic Ovary Syndrome: Implications for Extracellular Matrix Remodeling.
BioFactors (Oxford, England)Extracellular fluid miRNAs in PCOS.
Clinica chimica acta; international journal of clinical chemistryDifferential Effects of Canonical Androgens and 11-Ketotestosterone on Reproductive Phenotypes and Folliculogenesis in Mouse Model of PCOS.
BiomedicinesPCOS and Inositols - Advances and Lessons We are Learning. A Narrative Review.
Drug design, development and therapyUndiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations.
Radiology case reports[Difficulty with differential diagnosis on adrenal lesions in congenital adrenal cortex dysfunction: a series of clinical cases].
Problemy endokrinologiiDNA methylation and its impact on ovarian steroidogenesis in women with polycystic ovary syndrome: insights from human and animal models.
Archives of gynecology and obstetricsGonadotrophs have a dual origin, with most derived from early postnatal pituitary stem cells.
Nature communicationsHuangkui capsule, an extract from Abelmoschus manihot (L.) medic, inhibits adrenal aldosterone synthesis and renal ERK/EGR1 pathway in the treatment of diabetic kidney disease.
Journal of ethnopharmacologyExtracellular vesicles therapy alleviates cisplatin-ınduced testicular tissue toxicity in a rat model.
PloS oneExtracellular Vesicles in the Aging Male Reproductive System: Progresses and Perspectives.
Advances in experimental medicine and biologyEffect of Endocrine Disruptors on Testicular Function.
Advances in experimental medicine and biologyEscitalopram, an antidepressant, stimulates steroidogenesis in mouse Leydig cells.
Reproductive toxicology (Elmsford, N.Y.)Macrophage Regulation of Hypothalamic-Pituitary-Adrenal and Gonadal Axis Homeostasis and Hormonal Output.
Biomedical journalPerturbing local steroidogenesis to improve breast cancer immunity.
Nature communicationsInvolvement of cholesterol and ketone bodies in early stages of bovine cystic ovarian disease development.
Domestic animal endocrinologyConsequences of vitamin D deficiency or overdosage on follicular development and steroidogenesis in Normo and hypo calcemic mouse models.
Scientific reportsAn expanded metabolic pathway for androgen production by commensal bacteria.
Nature microbiologyTargeting pediatric adrenocortical carcinoma: Molecular insights and emerging therapeutic strategies.
Cancer treatment reviewsA Challenging Case of Congenital Adrenal Hyperplasia Due to CYP11B1 Deficiency With Uncontrolled Hypertension.
Case reports in endocrinologyQuercetin-loaded PEGylated liposomes alleviate testicular dysfunction in alloxan-induced diabetic rats: The role of Kisspeptin/Neurokinin B/Dynorphin pathway.
Toxicology and applied pharmacologyPCOS and genetics: Exploring the heterogeneous role of potential genes in ovarian dysfunction, a hallmark of PCOS - A review.
Reproductive biologyD-chiro-inositol effectively counteracts endometriosis in a mouse model.
Molecular medicine (Cambridge, Mass.)Steroid Signaling in Autophagy.
Journal of molecular biologyMetabolomic Profiling Reveals Distinct Pathways in Degenerated and Non-Degenerated Rotator Cuff Tears: Implications for Pathogenesis and Treatment.
Current molecular medicineRegulatory risk loci link disrupted androgen response to pathophysiology of Polycystic Ovary Syndrome.
medRxiv : the preprint server for health sciencesDownregulation of FASN in granulosa cells and its impact on ovulatory dysfunction in PCOS.
Journal of ovarian researchAtp6v0d2 deficiency partially restores defects in Mcoln1-deficient mouse corpus luteum.
Reproductive and developmental medicineImpact of CYP19A1 genetic variations on polycystic ovary syndrome: findings from a case-control study.
F&S scienceUnleashing the pharmacological potential of taste receptors in reproductive processes beyond their gustatory role.
SteroidsInvolvement of a Novel Variant of FGFR1 Detected in an Adult Patient with Kallmann Syndrome in Regulation of Gonadal Steroidogenesis.
International journal of molecular sciencesThe Ovary as a Target Organ for New Generation Bisphenols Toxicity.
ToxicsAge-Associated Increase in AT1R Expression in Human Testis and Its Intervention Effects on Leydig Cell Senescence in Aged Rodents.
The journals of gerontology. Series A, Biological sciences and medical sciencesExposure of bovine granulosa cells to lipopolysaccharide reduces progesterone secretion during luteinization†.
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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.
- Ectopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.
- Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
- Clinical features, investigation, and management of Addison's disease.
- Effect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.
- MSI2 expression in single vs. double dominant follicles and its role in Mongolian sheep fecundity.
- Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.
- Next-Generation Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Combined Features of Spherocytosis and Antley-Bixler Syndrome With Genital Anomalies and Disordered Steroidogenesis.
- Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
- Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
- [A case of Antley-Bixler syndrome caused by novel POR mutations].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:596008(Orphanet)
- OMIM OMIM:207410(OMIM)
- MONDO:0020667(MONDO)
- GARD:22389(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
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