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Síndrome do carcinoma basocelular nevoide (SCBCN) é uma doença rara herdada que envolve defeitos em múltiplos sistemas corporais, como a pele, sistema nervoso, olhos, sistema endócrino e ossos. Pessoas com SCBCN são propensas a desenvolver vários tipos de câncer, incluindo uma forma comum e geralmente não fatal de câncer de pele não melanoma, chamada carcinoma basocelular (CBC). Apenas cerca de 10% das pessoas com a condição não desenvolvem CBCs; a vasta maioria dos pacientes desenvolve numerosos CBCs.

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Publicações mais relevantes

🥇Melhor nível de evidência: Revisão sistemática
Timeline de publicações
0 papers (10 anos)
#1

Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.

International journal of molecular sciences2026 Mar 06

Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine-metabolic disorder associated with insulin resistance (IR), visceral adiposity, and increased cardiometabolic risk. The visceral adiposity index (VAI) is a validated surrogate marker of adipose tissue dysfunction, but its relationship with circulating neurotrophins and adipokine balance in PCOS remains incompletely understood. In this study, 100 women with PCOS were stratified into lower- (n = 50) and higher-risk (n = 50) groups according to VAI. Anthropometric measures, fasting glucose and insulin concentrations, lipid profile, and serum levels of brain-derived neurotrophic factor (BDNF), nerve growth factor-β (NGFβ), leptin, adiponectin, and resistin were assessed. HOMA-IR, adipokine ratios and atherogenic indices were calculated. Multivariate regression showed that BDNF was independently associated with VAI and non-HDL cholesterol, whereas NGFβ was independently linked to HDL cholesterol and estradiol, highlighting neurotrophin relationships with metabolic and endocrine parameters beyond general adiposity. Correlation heatmap and network analyses demonstrated interconnected clusters linking visceral adiposity, IR, dyslipidemia, adipokine imbalance, and neurotrophins, with the leptin/adiponectin ratio emerging as a central integrative marker. These findings suggest that within a PCOS population, VAI-defined cardiometabolic risk is associated with distinct neurotrophin-adipokine signatures, highlighting neurotrophin-adipokine networks underlying visceral adiposity-driven cardiometabolic and endocrine risk.

#2

BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.

ACS chemical neuroscience2026 Mar 04

Polycystic ovary syndrome (PCOS), a prevalent endocrine disorder characterized by hyperandrogenism, has been increasingly associated with a high risk of autism spectrum disorder (ASD) in offspring. The emerging interaction between reproductive endocrinology and neurodevelopmental biology suggests that excessive androgen exposure during gestation may perturb neurotrophic signaling and impair neural circuit formation. Brain-derived neurotrophic factor (BDNF) acts through tropomyosin receptor kinase B receptor to activate downstream phosphoinositide 3-kinase/protein kinase B and extracellular signal-regulated kinase/mitogen-activated protein kinase pathways, both of which are fundamental to neuronal survival and synaptogenesis. Disruption of these signaling cascades under hyperandrogenic conditions may lead to altered neuroarchitecture, impaired synaptic connectivity, and ASD-like behavioral phenotypes. Clinical and experimental studies also implicate aberrant BDNF expression in ovarian dysfunction, oocyte maturation deficits, and placental steroidogenic imbalance, highlighting a shared endocrine-neurodevelopmental axis in PCOS. Moreover, androgen excess may induce epigenetic modifications and post translational alterations of BDNF or tropomyosin receptor kinases B receptors, further compromising downstream signaling. These molecular events can dysregulate the transcriptional control of multiple synaptic and neurodevelopmental genes, thereby promoting atypical neuronal circuit formation. Understanding the interaction between BDNF signaling and androgen excess provides a mechanistic framework to explain how maternal endocrine imbalance influences neurodevelopment of offspring. This review integrates multidisciplinary findings spanning clinical cohorts, animal models, and molecular studies to delineate how androgen-BDNF interactions amplified by epigenetic, transcriptional, and post translational dysregulation underpin key neurodevelopmental disruptions observed in ASD. Furthermore, it emphasizes the translational potential of targeting BDNF-related pathways as early biomarkers or therapeutic entry points to mitigate the intergenerational neurodevelopmental consequences of PCOS.

#3

Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.

Frontiers in bioscience (Landmark edition)2026 Jan 16

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.

#4

A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.

Clinical genetics2026 Apr

A novel biallelic missense mutation (c.470A>T) in the STN1 gene is responsible for Coats Plus Syndrome.

#5

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Clinical genetics2026 Feb

Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability. Over 140 proteins localized to primary cilia, which are sensory organelles essential for vertebrate development, are implicated. TMEM17 encodes a transmembrane protein at the ciliary transition zone and was previously proposed as a potential ciliopathy gene, based on reports of individuals from two families with orofaciodigital syndrome type 6 (OFD6) and Joubert syndrome (JS). Here, we report two unrelated fetuses with occipital encephalocele, polydactyly, and kidney cysts, in whom exome sequencing identified a founder homozygous missense variant (Arg94Trp) in TMEM17, affecting a highly conserved residue. This expands the TMEM17-associated phenotypic spectrum to include Meckel syndrome (MKS). Comprehensive functional analyses of all known TMEM17 variants, using patient tissues/cells and a C. elegans model system, demonstrate a loss-of-function mechanism. Our study reveals severe functional consequences, including TMEM17 destabilization and mislocalization, anomalies in cilium composition and function, and abrogation of Sonic Hedgehog signaling. These experiments confirm the pathogenicity of all TMEM17 variants and underscore its essential role at the ciliary transition zone. Collectively, our findings establish TMEM17 as a bona fide ciliopathy gene, associated with a wide phenotypic spectrum ranging from viable syndromes (OFD6 and JS) to a fetal-lethal condition (MKS).

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.

International journal of molecular sciences
2026

Circadian rhythm disruption induces PCOS-like phenotypes by interfering with ovarian steroid hormone synthesis pathways.

The Journal of steroid biochemistry and molecular biology
2026

BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.

ACS chemical neuroscience
2026

[Neuroendocrine regulation of the reproductive system: integration of research of neuropeptide and experimental pathophysiology of amenorrhea of different genesis (literature review)].

Problemy endokrinologii
2026

Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.

Frontiers in bioscience (Landmark edition)
2026

Phoenixin-14 ameliorates ovarian morphology in a DHEA-induced rat model of PCOS.

Reproduction & fertility
2025

Status of a lipid accumulation product, triglycerides/ glucose index and visceral adiposity index on cardiometabolic risk factors in young polycystic ovary syndrome patients.

Ceska gynekologie
2025

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Cureus
2026

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Experimental and therapeutic medicine
2026

Mitochondrial AR overactivation coupled with uterine decidual mitochondrial defects in PCOS-associated pregnancy loss.

The Journal of endocrinology
2026

Androgen actions in metabolic tissues in polycystic ovary syndrome.

Endocrinology
2026

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Journal francais d'ophtalmologie
2025

Spinal manifestations of Paget's disease: Case presentation and systematic review.

Brain & spine
2025

Poretti-Boltshauser Syndrome in a Toddler: Novel Neuroimaging Features and Clinical Presentation.

Cureus
2025

Efficacy of Acupuncture in Alleviating Negative Emotions in Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis.

Brain and behavior
2026

A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.

Clinical genetics
2025

Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.

Einstein (Sao Paulo, Brazil)
2026

Effect of beta-glucan on oxidative stress, inflammation, hormonal and histopathological changes in dehydroepiandrosterone-induced polycystic ovary syndrome.

Biotechnic & histochemistry : official publication of the Biological Stain Commission
2025

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

BMC medical genomics
2025

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.

Molecular genetics & genomic medicine
2025

Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique cases.

Rare (Amsterdam, Netherlands)
2026

Obesity and infertility: a double whammy.

Current opinion in endocrinology, diabetes, and obesity
2026

Resting Cerebrovascular Haemodynamics and Dynamic Assessment of Cerebrovascular Function in Polycystic Ovary Syndrome.

Clinical endocrinology
2025

Clinical variation in Lowe syndrome: what and how?

Frontiers in cell and developmental biology
2025

Changes in anti-mullerian hormone levels after recovery from functional hypothalamic amenorrhea: a retrospective cohort study about women with and without polycystic ovarian morphology.

Reproductive biology and endocrinology : RB&E
2026

Hypothalamic RASA1/Ras/AKT/GnRH axis reprogramming mediates GLP-1RA's central rescue of PCOS HPG dysfunction.

Diabetes, obesity & metabolism
2025

Forebrain AR Deletion Restores PR Expression but not Reproduction in Prenatally Androgenized Female Mice.

Endocrinology
2025

Multi-ancestry genome-wide association analyses of polycystic ovary syndrome.

Nature genetics
2025

Targeting estrogen receptors in PCOS: A receptor-specific framework for neuropsychiatric dysfunction and therapeutic modulation.

Pharmacological research
2025

Polycystic ovary syndrome: Unveiling the multifaceted contributors, mechanisms, and psychological impacts.

Hormones and behavior
2025

Primary Intraosseous Vascular Malformation in a Child with ELMO2 Mutation: Diagnostic and Dental Management Challenges.

Dentistry journal
2025

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.

Cureus
2026

Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome.

The British journal of dermatology
2025

Modulating metabolism and reproductive health through microbiome driven gut-brain axis therapies.

Microbial pathogenesis
2025

Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.

Radiology case reports
2025

Gut feelings-the gut microbiome as a regulator of mental health in polycystic ovary syndrome.

Fertility and sterility
2025

S2, S3, and S4 Sacral Dermatomal Evoked Potentials: Technical Parameters and Normative Values.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society
2025

Bobble-head doll syndrome and Suprasellar Arachnoid cyst: A rare experience and systematic literature review.

Neurosurgical review
2025

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Neurology
2025

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.

Neurology
2025

Global prevalence, incidence and years lived with disability of polycystic ovary syndrome highlights disease burden among adolescents.

Reproductive biomedicine online
2025

The Hypothalamic Nuclei Implicated in the Regulation of Polycystic Ovary Syndrome: A Review of Its Clinical, Metabolic, and Endocrine Aspects.

Molecules (Basel, Switzerland)
2025

Polycystic ovary syndrome: antimüllerian hormone and its role in the pathophysiology of the syndrome.

Fertility and sterility
2025

Full-endoscopic spine surgery for intradural pathologies: A systematic review of innovations, challenges, and future prospects.

Brain & spine
2026

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

Clinical genetics
2025

An Adolescent Football Player With Persistent Headaches Following a Concussion: A Case of Primary Arachnoid Cyst.

Cureus
2025

Exploring 1400 Plasma Metabolites and Polycystic Ovary Syndrome: A Bidirectional Mendelian Randomization Study.

Brain and behavior
2025

Ectopic ACTH Secretion Induced by an Olfactory Neuroblastoma: A Case Report.

Case reports in endocrinology
2025

Butyric acid ameliorates PCOS-related reproductive dysfunction through gut-brain-ovary axis signaling and ovarian steroidogenic factor activation.

Frontiers in endocrinology
2025

POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Gestational anti-Müllerian hormone and testosterone excess combined with maternal adiposity program for polycystic ovary syndrome.

Reproduction (Cambridge, England)
2025

Foix-Chavany-Marie syndrome: A rare presentation with arachnoid cyst involvement.

Radiology case reports
2025

Placental and cerebral circulation in fetuses of mothers with polycystic ovary syndrome and the effect of Metformin exposure.

BMC pregnancy and childbirth
2025

New perspectives on polycystic ovary syndrome: hypothalamic-sympathetic-adipose tissue interaction.

Journal of ovarian research
2025

The overlooked mental health burden of polycystic ovary syndrome: neurobiological insights into PCOS-related depression.

Frontiers in neuroendocrinology
2025

Microsurgical pineal cyst fenestration: A safe and effective treatment strategy in patients with symptomatic pineal cyst syndrome.

Acta neurochirurgica
2025

Exploring the spectrum of headaches in neurocysticercosis: a systematic review and meta-analysis.

Transactions of the Royal Society of Tropical Medicine and Hygiene
2025

Pluchea dioscoridis extract: A novel therapeutic approach for polycystic ovary syndrome targeting ovarian morphology, dopamine pathways, and neurobehavior in relation to its phytocomponents.

PloS one
2025

Sirtuins, redox, and metabolic pathways in the brain of female PCOS mice.

Journal of assisted reproduction and genetics
2025

[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Rodent models of functional hypothalamic amenorrhea: a systematic scoping review.

Frontiers in endocrinology
2025

Reduced locomotor activity in an ovarian-intact rat model of PCOS induced by mild exposure to dihydrotestosterone.

The Journal of endocrinology
2025

The role of lncRNA HUPCOS in androgen metabolism and follicle growth arrest in polycystic ovary syndrome.

Cell biology and toxicology
2025

Brain-Specific Gata4 Downregulation in Greywick Female Mice Models the Metabolic Subtype of Polycystic Ovary Syndrome.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Italian journal of pediatrics
2025

Endoscopic resection of a giant colloid cyst in the cavum septum pellucidum: Illustrative case.

Surgical neurology international
2025

The Role of Gut-Brain Tryptophan Metabolism and Fatty Acid Peroxidation in the Effect of Sleep Deprivation on Anxiety and Depression in PCOS Mice.

Molecular neurobiology
2025

Endocrine-disrupting chemicals and female reproductive health: a growing concern.

Nature reviews. Endocrinology
2026

Mendelian Randomization Analyses Reveal Causal Relationships between Brain Structural Connectivity and Risk of Polycystic Ovary Syndrome.

Gynecologic and obstetric investigation
2025

Autoantibodies Targeting the Hypothalamic-Pituitary-Ovarian Axis in Polycystic Ovary Syndrome: Emerging Key Players in Pathogenesis?

International journal of molecular sciences
2025

Ultra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.

Ophthalmic surgery, lasers & imaging retina
2025

Metabolic disorders in polycystic ovary syndrome: from gut microbiota biodiversity to clinical intervention.

Frontiers in endocrinology
2025

Semaglutide and Taste in Women With Obesity and Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Study.

The Journal of clinical endocrinology and metabolism
2025

Long-term effects of metformin on offspring health: A review of current evidence and future directions.

Diabetes, obesity & metabolism
2025

Functional hemispherectomy for seizure control in encephalocraniocutaneous lipomatosis: illustrative case.

Journal of neurosurgery. Case lessons
2025

GnRH ability to release FSH and LH in women with functional hypothalamic amenorrhea: a retrospective cohort study about women with and without polycystic ovarian morphology.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2025

Neuroendocrine mechanisms responsible for elevated gonadotrophin-releasing hormone and luteinising hormone pulses in polycystic ovary syndrome.

Journal of neuroendocrinology
2025

Gut microbiota: a hidden player in polycystic ovary syndrome.

Journal of translational medicine
2025

Adipokines level in plasma, hypothalamus, ovaries and adipose tissue of rats with polycystic ovary syndrome.

Reproductive biomedicine online
2025

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.

JIMD reports
2025

Assessment of Fetal Posterior Fossa Anomalies at 11-13+6 Gestational Weeks in the Midsagittal Cranial Plane by Three-Dimensional Multiplanar Sonography: A Prospective Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2025

Gut microbiota in diabetic-linked polycystic ovarian syndrome: Mechanisms and therapeutic insights.

Tissue & cell
2025

An endocrinological perspective on polycystic ovarian syndrome.

Molecular and cellular endocrinology
2025

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome.

Viruses
2025

Women with polycystic ovary syndrome (PCOS): Likelihood of cooccurring neuropsychiatric conditions and the dual hit hypothesis.

Frontiers in neuroendocrinology
2024

[Difficulties of differential diagnosis of functional hypothalamic amenorrhea and polycystic ovary syndrome: a systematic review].

Problemy endokrinologii
2025

POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Polycystic ovary syndrome: an evolutionary metabolic adaptation.

Reproduction (Cambridge, England)
2025

Probiotics ameliorates hypothalamic amenorrhea in a rat model of PCOS.

Metabolic brain disease
2025

Von Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.

Molecular biology reports
2025

Fatal toxoplasmic encephalitis triggered by anti-TNF therapy.

Heliyon
2025

Tailored Callosotomy in Third Ventricle Colloid Cyst Resection via Anterior Interhemispheric Transcallosal Approach.

World neurosurgery
2025

Zinner syndrome with seminal vesicles stones: A rare case report and literature review.

International journal of surgery case reports
2025

Modulatory impact of Bifidobacterium longum subsp. longum BL21 on the gut-brain-ovary axis in polycystic ovary syndrome: insights into metabolic regulation, inflammation mitigation, and neuroprotection.

mSphere
2025

The Hypothalamus and Pituitary Gland Regulate Reproduction and Are Involved in the Development of Polycystic Ovary Syndrome.

Neuroendocrinology
2025

Selected plant extracts and female fertility: role in the regulation of the hypothalamo-pituitary-ovarian axis in normal and pathological conditions.

Reproduction, fertility, and development
2024

Shunt Dependency Syndrome Combined with Sinus Stenosis after Cyst-peritoneal Shunting of Arachnoid Cyst: A 20-year Rare Complication.

NMC case report journal
2025

Extensive Inactive Neurocysticercosis: A Case Report in Mbeya, Southern Highlands of Tanzania.

International medical case reports journal
2025

Nipecotic Acid Ameliorates Letrozole Induced Poly Cystic Ovarian Syndrome in Female Virgin Wistar Rats by Modulating Hypothalamic-Pituitary-Gonadal (HPG) Axis Regulated by GABA.

Reproductive sciences (Thousand Oaks, Calif.)
2025

Update on Hypothalamic Inflammation and Gliosis: Expanding Evidence of Relevance Beyond Obesity.

Current obesity reports
2025

GnRH pulse generator activity in mouse models of polycystic ovary syndrome.

eLife
2025

Pineal cyst in bipolar patient with normolithiaemia and positive fibromyalgic tender points.

Radiology case reports
2024

Systematic low-grade chronic inflammation and intrinsic mechanisms in polycystic ovary syndrome.

Frontiers in immunology
2025

Altered GnRH neuron-glia networks close to interface of polycystic ovary syndrome: Molecular mechanism and clinical perspectives.

Life sciences
2025

Multiple effects of kisspeptin on neuroendocrine, reproduction, and metabolism in polycystic ovary syndrome.

Journal of neuroendocrinology
2025

Decreased neurotensin induces ovulatory dysfunction via the NTSR1/ERK/EGR1 axis in polycystic ovary syndrome.

Frontiers of medicine
2024

Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.

Obstetric medicine
2025

Cerebral Hydatidosis in a Lamb.

Veterinary medicine and science
2025

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

European journal of human genetics : EJHG
2024

Spontaneous Intracranial Hypotension and Dural Ectasia in Marfan Syndrome: An Illustrative Case Successfully Treated with Steroid Therapy and Literature Review.

Brain sciences
2025

Ascorbic acid Mitigates behavioural disturbances associated with letrozole-induced PCOS via switching-off JAK2/STAT5 and JAK2/ERK1/2 pathways in rat hippocampus.

Steroids
2024

Protocol for a randomized comparative effectiveness trial comparing a very low-carbohydrate diet to DASH diet for polycystic ovary syndrome: the SUPER (Supporting Understanding of PCOS Education and Research) trial.

Trials
2024

[Disseminated toxoplasmosis confirmed by tachyzoites and cysts in bone marrow smear after cord blood transplantation].

[Rinsho ketsueki] The Japanese journal of clinical hematology
2024

Familial coaggregation and shared genetic influence between major depressive disorder and gynecological diseases.

European journal of epidemiology
2024

Unveiling the complex interplay between gut microbiota and polycystic ovary syndrome: A narrative review.

Clinical nutrition (Edinburgh, Scotland)
2025

Polycystic ovary syndrome and gestational diabetes mellitus association to pregnancy outcomes: A national register-based cohort study.

Acta obstetricia et gynecologica Scandinavica
2025

Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings.

Journal of human genetics
2024

Superior metabolic improvement of polycystic ovary syndrome traits after GLP1-based multi-agonist therapy.

Nature communications
2024

Potential therapeutic application and mechanism of gut microbiota-derived extracellular vesicles in polycystic ovary syndrome.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2024

Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.

Cureus
2024

Neuropeptide Network of Polycystic Ovary Syndrome - A Review.

Protein and peptide letters
2024

The linking of toxoplasmosis and schizophrenia.

Folia parasitologica
2024

Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.

Journal of cutaneous pathology
2024

Role of Laparoscopy in Severe Gastrointestinal Bleeding Secondary to Coats Plus Syndrome.

Cureus
2024

Acetate attenuates hypothalamic pyroptosis in experimentally induced polycystic ovarian syndrome.

BMC research notes
2024

Arachnoid Cysts in Athletes with Sports-Related Concussion: A Case Series and Literature Review.

Sports medicine - open
2024

[Research Progress in the Pathogenesis of Polycystic Ovary Syndrome].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2024

Pterostilbene Ameliorates Cognitive Impairment in Polycystic Ovary Syndrome Rat Model through Improving Insulin Resistance via the IRS-1/PI3K/Akt/GSK-3β Pathway: A Comparative Study with Metformin.

ACS chemical neuroscience
2024

Hyperandrogenism Decreases Seizure Threshold in a Rat Model of Polycystic Ovary Syndrome.

Neuroendocrinology
2024

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.

American journal of ophthalmology case reports
2024

Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.

Cureus
2025

Risk of Type 2 Diabetes, MASLD and Cardiovascular Disease in People Living With Polycystic Ovary Syndrome.

The Journal of clinical endocrinology and metabolism
2024

Ameliorating effects of adropin on letrozole-induced polycystic ovary syndrome via regulating steroidogenesis and the microbiota inflammatory axis in rats.

The Journal of physiology
2024

Leukoencephalopathy with Cerebral Calcifications and Cysts: The Neurosurgical Perspective. Literature Review.

World neurosurgery
2024

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Journal of medical genetics
2024

Birt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.

Journal of family medicine and primary care
2024

Balancing Act: Exploring the Gut Microbiota-Brown Adipose Tissue Axis in PCOS Pathogenesis and Therapeutic Frontiers.

Frontiers in bioscience (Landmark edition)
2024

Expression of transforming growth factor β signalling molecules and their correlations with genes in loci linked to polycystic ovary syndrome in human foetal and adult tissues.

Reproduction, fertility, and development
2024

Mesenchymal stem cell-derived apoptotic vesicles ameliorate impaired ovarian folliculogenesis in polycystic ovary syndrome and ovarian aging by targeting WNT signaling.

Theranostics
2024

Dysregulated RNA editing of EIF2AK2 in polycystic ovary syndrome: clinical relevance and functional implications.

BMC medicine
2025

Sex Hormone Treatment for Female Children and Young Adults with Disorders Affecting Hypothalamic, Pituitary, and Ovarian Function.

Hormone research in paediatrics
2024

Effect of Sleeve Gastric Surgery on Body Weight and Hypothalamic-Pituitary Axis Hormone Levels in Patients with Polycystic Ovary Syndrome.

Obesity surgery
2024

Menstrual pattern in polycystic ovary syndrome and hypothalamic-pituitary-ovarian axis immaturity in adolescents: a systematic review and meta-analysis.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2024

Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome.

Molecular psychiatry
2024

Is the MIND diet useful for polycystic ovary syndrome? A case-control study.

BMC women's health
2024

Prenatal Androgen Exposure Induces Anxiety-Like Behavior in Ewes.

Neuroendocrinology
2024

Conservative management of multiple odontogenic keratocysts in a child with nevoid basal cell carcinoma syndrome: A case report.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2024

Evaluating the potential of daily intake of polystyrene microplastics via drinking water in inducing PCOS and its ovarian fibrosis progression using female zebrafish.

NanoImpact
2024

The Novel Insight of Gut Microbiota from Mouse Model to Clinical Patients and the Role of NF-κB Pathway in Polycystic Ovary Syndrome.

Reproductive sciences (Thousand Oaks, Calif.)
2024

Imaging Feature of Leukoencephalopathy with Calcifications and Cysts (Labrune Syndrome).

World neurosurgery
2024

Role of Anti-Müllerian Hormone in the Central Regulation of Fertility.

Seminars in reproductive medicine
2024

Antidiuretic hormone deficiency secondary to inactive hydrocephalus: a case report.

Journal of medical case reports
2024

Role of the gut microbiota and innate immunity in polycystic ovary syndrome: Current updates and future prospects.

Journal of cellular and molecular medicine
2024

Psychological symptoms and brain activity alterations in women with PCOS and their relation to the reduced quality of life: a narrative review.

Journal of endocrinological investigation
2024

Fetal trisomy 18 associated with congenital diaphragmatic hernia, choroid plexus cysts, clenched hands and a maternal origin of the extra chromosome 18.

Taiwanese journal of obstetrics & gynecology
2024

NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.

International journal of molecular sciences
2024

Letrozole induced a polycystic ovary syndrome model in zebrafish by interfering with the hypothalamic-pituitary-gonadal axis.

Environmental pollution (Barking, Essex : 1987)
2024

Mechanisms of probiotic modulation of ovarian sex hormone production and metabolism: a review.

Food & function
2024

Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

Cerebellum (London, England)
2024

Development and prenatal exposure to androgens alter potassium currents in gonadotropin-releasing hormone neurons from female mice.

Journal of neuroendocrinology
2025

Exploring the physiological factors relating to energy balance in women with polycystic ovary syndrome: a scoping review.

Nutrition reviews
2024

Androgen receptor actions on AgRP neurons are not a major cause of reproductive and metabolic impairments in peripubertally androgenized mice.

Journal of neuroendocrinology
2024

A case report of cerebellar hemangioblastoma simulated brain metastasis shown by magnetic resonance imaging.

Medicine
2024

MFSD7c functions as a transporter of choline at the blood-brain barrier.

Cell research
2024

Associations of Polycystic Ovary Syndrome With Indicators of Brain Health at Midlife in the CARDIA Cohort.

Neurology
2024

Dihydrotestosterone induces arterial stiffening in female mice.

Biology of sex differences
2024

Gut Microbiome and Polycystic Ovary Syndrome: Interplay of Associated Microbial-Metabolite Pathways and Therapeutic Strategies.

Reproductive sciences (Thousand Oaks, Calif.)
2024

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Troxerutin dampened hypothalamic neuroinflammation via microglial IL-22/IL-22R1/IRF3 activation in dihydrotestosterone-induced polycystic ovary syndrome rats.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2024

Elevated circulating adiponectin levels do not prevent anxiety-like behavior in a PCOS-like mouse model.

Scientific reports
2023

The 1 μg Synacthen stimulation test in the diagnosis of secondary adrenal insufficiency in patients with Rathke's cleft cyst and empty sella syndrome.

Endokrynologia Polska
2024

Colloid Cyst of the Third Ventricle: A Case Report.

Acta medica (Hradec Kralove)
2023

Congenital High Airway Obstructive Syndrome (CHAOS) Survival of a Newborn with Laryngeal Atresia.

Diagnostics (Basel, Switzerland)
2024

Metabolic hormones are integral regulators of female reproductive health and function.

Bioscience reports
2023

Exploration of the pathogenesis of polycystic ovary syndrome based on gut microbiota: A review.

Medicine
2023

Sudden death in patients with pineal cyst: Evidence from autopsy studies.

Journal of neurosciences in rural practice
2023

Coats Plus Syndrome Presenting in an Adult.

Journal of vitreoretinal diseases
2023

The effect of calorie-restriction along with thylakoid membranes of spinach on the gut-brain Axis Pathway and oxidative stress biomarkers in obese women with polycystic ovary syndrome: a Randomized, Double-blind, placebo-controlled clinical trial.

Journal of ovarian research
2024

[Genetic diffuse cystic lung disease in adults].

Revue des maladies respiratoires
2023

Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses.

Current medical imaging
2023

Overactivation of GnRH neurons is sufficient to trigger polycystic ovary syndrome-like traits in female mice.

EBioMedicine
2023

Imaging of congenital and developmental cystic lesions of the brain: a narrative review.

Expert review of neurotherapeutics
2024

An imaging review of the hippocampus and its common pathologies.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2023

Von Hippel Lindau Disease with central nervous system and multiple visceral manifestations: A case report.

Radiology case reports
2023

Impose of KNDy/GnRH neural circuit in PCOS, ageing, cancer and Alzheimer's disease: StAR actions in prevention of neuroendocrine dysfunction.

Ageing research reviews
2023

Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.

Frontiers in neurology
2023

Neoadjuvant photodynamic therapy as a therapeutic alternative in multiple basal cell carcinoma induced by radiotherapy.

Photodiagnosis and photodynamic therapy
2023

A Case Report of Pseudotumor Cerebri Syndrome with a Huge Retroperitoneal Cyst.

Medicina (Kaunas, Lithuania)
2023

Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.

Genes
2023

The impact of diabetes and obesity on fertility and the potential role of gut hormones as treatment.

Diabetic medicine : a journal of the British Diabetic Association
2023

​Occult extracranial malignancy after complete remission of pineal mixed germ cell tumors: a rare case report and literature review.

BMC pediatrics
2023

Suppression of hypothalamic-pituitary-gonadal function by linzagolix in benign prostatic hyperplasia and polycystic ovary syndrome animal models.

Clinical and experimental pharmacology & physiology
2023

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature.

Frontiers in pediatrics
2023

Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.

AJNR. American journal of neuroradiology
2023

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal of medical genetics
2023

Network pharmacology-based strategic prediction and target identification of apocarotenoids and carotenoids from standardized Kashmir saffron (Crocus sativus L.) extract against polycystic ovary syndrome.

Medicine
2023

Transcriptome analysis identification of A-to-I RNA editing in granulosa cells associated with PCOS.

Frontiers in endocrinology
2023

Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome.

Journal of ovarian research
2023

Benign Brain and Spinal Tumors Originating from Bone or Cartilage.

Advances in experimental medicine and biology
2023

Tumoral parkinsonism-Parkinsonism secondary to brain tumors, paraneoplastic syndromes, intracranial malformations, or oncological intervention, and the effect of dopaminergic treatment.

Brain and behavior
2023

Decreased role of neuropeptides in the microvascular function in migraine patients with polycystic ovary syndrome.

Atherosclerosis
2023

Preclinical pharmacokinetics of 4-hydroxy isoleucine using LC-MS/MS: a potential polycystic ovary syndrome phytopharmaceutical therapeutics.

Bioanalysis

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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. Neurotrophin and Adipokine Signatures Associated with Visceral Adiposity-Driven Cardiometabolic and Endocrine Risk in Polycystic Ovary Syndrome.
    International journal of molecular sciences· 2026· PMID 41828655mais citado
  2. BDNF- Dysregulation as a Neurobiological Bridge between Polycystic Ovarian Syndrome and Autism Spectrum Disorder.
    ACS chemical neuroscience· 2026· PMID 41677347mais citado
  3. Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
    Frontiers in bioscience (Landmark edition)· 2026· PMID 41609089mais citado
  4. A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
    Clinical genetics· 2026· PMID 41387117mais citado
  5. Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
    Clinical genetics· 2026· PMID 40841990mais citado
  6. Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease.
    Orphanet J Rare Dis· 2024· PMID 38212814recente
  7. Male-specific late effects in adult hematopoietic cell transplantation recipients: a systematic review from the Late Effects and Quality of Life Working Committee of the Center for International Blood and Marrow Transplant Research and Transplant Complications Working Party of the European Society of Blood and Marrow Transplantation.
    Bone Marrow Transplant· 2022· PMID 35523848recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2081(Orphanet)
  2. MONDO:0016161(MONDO)
  3. GARD:1206(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785985(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

Síndrome de gigantismo cerebral-cistos mandibulares
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Síndrome de gigantismo cerebral-cistos mandibulares

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