Raras
Buscar doenças, sintomas, genes...
Síndrome Antley-Bixler sem anomalias genitais ou distúrbio da gênese dos esteroides
ORPHA:596008CID-10 · Q87.8CID-11 · LD24.GYOMIM 207410DOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

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.

🏥
SUS: Cobertura mínimaScore: 35%
Centros em: RJ, PR, SC, RS, ES +10CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
7 sintomas
😀
Face
4 sintomas
🧠
Neurológico
2 sintomas
🫃
Digestivo
2 sintomas
💪
Músculos
1 sintomas
🫁
Pulmão
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

Contratura em flexão
Obstrução das vias aéreas superiores
Pequenos lábios fundidos
Deficiência intelectual
Atresia de coana
Estenose de coana
32sintomas
Sem dados (32)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 características clínicas mais associadas, ordenadas por frequência.

Contratura em flexãoFlexion contracture
Obstrução das vias aéreas superioresUpper airway obstruction
Pequenos lábios fundidosFused labia minora
Deficiência intelectualIntellectual disability
Atresia de coanaChoanal atresia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2025136 papers
Linha do tempo
2025Hoje · 2026
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

2 genes identificados com associação a esta condição.

Autosomal dominant
FGFR2Fibroblast growth factor receptor 2Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneGolgi apparatusCytoplasmic vesicleSecreted

VIAS BIOLÓGICAS (1)
Signaling by FGFR2 amplification mutants
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
130.1 TPM
Útero
43.5 TPM
Skin Sun Exposed Lower leg
41.0 TPM
Cólon sigmoide
39.0 TPM
Skin Not Sun Exposed Suprapubic
37.3 TPM
OUTRAS DOENÇAS (15)
Saethre-Chotzen syndromegastric cancerJackson-Weiss syndromePfeiffer syndrome
HGNC:3689UniProt:P21802
PORNADPH--cytochrome P450 reductaseMENDELIANTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (1)
Cytochrome P450 - arranged by substrate type
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
164.2 TPM
Fígado
149.3 TPM
Tireoide
116.3 TPM
Pituitária
84.0 TPM
Pulmão
67.2 TPM
OUTRAS DOENÇAS (2)
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
HGNC:9208UniProt:P16435

Variantes genéticas (ClinVar)

308 variantes patogênicas registradas no ClinVar.

🧬 FGFR2: NM_000141.5(FGFR2):c.1646A>T (p.Asn549Ile) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1064_1075delinsTATGGTTGACGA (p.Ala355_Val359delinsValTrpLeuThrIle) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1375A>T (p.Met459Leu) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1068G>C (p.Trp356Cys) ()
🧬 FGFR2: NM_000141.5(FGFR2):c.1023_1024delinsTA (p.Cys342Ser) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Ectopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.

International journal of molecular sciences2026 Jan 24

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.

#2

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.

#3

Clinical features, investigation, and management of Addison's disease.

The lancet. Diabetes & endocrinology2026 Mar

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.

#4

Effect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.

The lancet. Diabetes & endocrinology2026 Mar

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.

#5

MSI2 expression in single vs. double dominant follicles and its role in Mongolian sheep fecundity.

Animal reproduction science2026 Apr

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

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Ursolic acid, a pentacyclic triterpene from Ochrosia elliptica Labill leaves and its role in the management of polycystic ovary syndrome (PCOS).

Inflammopharmacology
2026

Long-term 3D culture of human cumulus granulosa cell spheroids in PEGylated fibrin: a preclinical model for reproduction and ovarian research.

Journal of ovarian research
2026

L-carnitine improves polycystic ovary syndrome by increasing CYP11A1, estrogen receptor, and decreasing XNIP and VEGF expression.

Naunyn-Schmiedeberg's archives of pharmacology
2026

Neurosteroids in Neurological and Psychiatric Disorders: Therapeutic Implications.

CNS & neurological disorders drug targets
2026

Molecular mechanisms and pathophysiology of meibomian gland dysfunction.

Experimental eye research
2026

Endocrine 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 Endocrinologists
2026

International Real-world study on osilodrostat efficacy and safety in adrenal Cushing syndrome.

The Journal of clinical endocrinology and metabolism
2026

cAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.

Frontiers in endocrinology
2026

Female reproductive toxicity of chronic exposure to perfluorohexane sulfonate (PFHxS) under the confounding factor of dietary protein deficiency.

Reproductive toxicology (Elmsford, N.Y.)
2026

Mitochondrial open reading frame of the 12S rRNA type-c (MOTS-c) primes adrenal cortex metabolism without directly driving steroidogenesis.

Folia histochemica et cytobiologica
2026

Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report.

Journal of clinical research in pediatric endocrinology
2026

Case Report: Paradoxical responses to pasireotide in a patient with a silent corticotroph adenoma that transformed into an ACTH-secreting adenoma.

Frontiers in oncology
2026

Ovarian Rev-erbα: a central regulator of fertility following chronodisruption.

Frontiers in endocrinology
2026

The β2-adrenoceptor agonist formoterol attenuates hallmarks of adrenal Cushing's syndrome.

British journal of pharmacology
2026

The Intimate Relationship between Adipose Tissue, Fertility, and Bone.

Journal of frailty, sarcopenia and falls
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

Puerarin restores testicular steroidogenesis via VDR-cyclic AMP/PKA signaling in a chronic unpredictable stress (CUS) rat model.

The Journal of steroid biochemistry and molecular biology
2026

Endometriomas are heterogeneous for functional FSH receptor expression and steroidogenic function.

Molecular human reproduction
2026

Sickle Cell Disease and Male Infertility: Pathophysiological Mechanisms, Clinical Manifestations, and Fertility Preservation Strategies-A Narrative Review.

Life (Basel, Switzerland)
2026

The Role and Mechanisms of miRNAs on Ovarian Granulosa Cells: A Literature Review.

Genes
2026

Kaempferol ameliorates PCOS by alleviating metabolic and endocrine abnormalities as well as oxidative stress.

Steroids
2026

Lacticaseibacillus rhamnosus DACN152 effectively ameliorated letrozole-induced polycystic ovary syndrome: sex hormone homeostasis, microbiota and metabolite profiles.

Food & function
2026

In vitro differentiation of the hypothalamic KNDy neuron, a master regulator for reproduction, from mouse embryonic stem cells.

Reproductive biology and endocrinology : RB&E
2026

Integrative bioinformatics, single-cell and experimental evidence for a BPA-m6A-apoptosis axis in granulosa cell dysfunction in polycystic ovary syndrome.

Journal of ovarian research
2026

Ergothioneine rescues obesity-induced testicular dysfunction via dual restoration of steroidogenesis and mitochondrial redox homeostasis.

Redox biology
2026

Metabolic hubs in reproduction: The regulatory network of lipid droplets in gamete and embryo physiology (Review).

International journal of molecular medicine
2026

Restoring NAD⁺-Sirtuins Signaling: A Novel Approach to Combat Male Reproductive Aging.

The world journal of men's health
2026

Quality of Life in Children With Congenital Adrenal Hyperplasia: A Tertiary-Center Case-Control Study.

Clinical endocrinology
2026

Genetic insights into hypospadias in the Taiwanese population: A whole-exome sequencing study in a single center.

Journal of pediatric surgery
2026

Exercise attenuates polycystic ovary syndrome development via improved mitochondrial proteostasis.

American journal of physiology. Endocrinology and metabolism
2026

Ectopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.

International journal of molecular sciences
2026

Circular RNA ciR-02852: A novel physiological inhibitor of Porcine ovarian granulosa cell functions.

Molecular biology reports
2026

[Non-classic lipoid adrenal hyperplasia: clinical cases report].

Problemy endokrinologii
2026

Methyl ester sulfonate suppresses leydig cell steroidogenesis by targeting the GATA2/TGF-β1/SMAD signaling axis.

Ecotoxicology and environmental safety
2026

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

Frontiers in bioscience (Landmark edition)
2026

Dihydrotanshinone as a Natural Product-Based CYP17A1 Lyase Inhibitor for Hyperandrogenic Disorders.

Biomolecules
2026

TGF-β Signaling in the Pathophysiology of the Ovary: A Double-Edged Regulator.

Biomolecules
2026

Clinical features, investigation, and management of Addison's disease.

The lancet. Diabetes & endocrinology
2025

Amelioration of polycystic ovarian morphology by Tokishakuyakusan in a PCOS rat model: association with bone morphogenetic protein 4.

Frontiers in endocrinology
2026

Effect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.

The lancet. Diabetes & endocrinology
2026

MSI2 expression in single vs. double dominant follicles and its role in Mongolian sheep fecundity.

Animal reproduction science
2026

Platelet-derived growth factor receptor alpha regulates fetal testis differentiation via an ERK-CREB axis.

Proceedings of the National Academy of Sciences of the United States of America
2025

Traumatic brain injury and post-injury sleep fragmentation differentially alter the microglial transcriptome.

Frontiers in immunology
2026

Tianjing Zelan formula improves polycystic ovary syndrome by regulating steroid biosynthesis and arachidonic acid metabolism.

Journal of ethnopharmacology
2026

Adrenal tumors in the elderly.

Endocrine-related cancer
2026

A Review on the Effects of Atrazine on Male Rat Reproductive System Cytoarchitecture, Steroidogenesis and Oxidative Pathway.

Journal of molecular histology
2026

A novel 2D and 3D model for primary adrenocortical carcinoma of advanced and metastasized stage co-secreting cortisol, aldosterone, testosterone, 18-oxocortisol and 18-hydroxycortisol.

Endocrine-related cancer
2026

Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Testis and Ovary of Mudskipper, Boleophthalmus pectinirostris.

Animals : an open access journal from MDPI
2025

Protein Kinase A Signaling in Cortisol Production and Adrenal Cushing's Syndrome.

Cells
2026

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia.

Case reports in endocrinology
2026

Update and practical recommendations for the use of medical treatment of Cushing´s syndrome.

Endocrine reviews
2025

Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.

Journal of endocrinological investigation
2025

Peripheral organ crosstalk in the regulation of ovarian endocrine function and reproductive homeostasis.

Life medicine
2025

Placental-Derived Mesenchymal Stem Cells Triggers Lipid Metabolism in a Rat Model Thioacetamide-Induced Ovarian Disease via Increased CPT1A Expression for Mitochondrial Dynamics.

Cells
2025

IGF-1R Antagonism in Thyroid Eye Disease and Female Reproductive Function.

Ophthalmic plastic and reconstructive surgery
2026

The ACSL family: Bridging fatty acid metabolism and cell death in cancer progression.

Metabolism: clinical and experimental
2025

Genetic and stem cell insights into the pathogenesis of endometriosis: A comprehensive review.

Journal of biological methods
2026

FOS and JUN regulate oxidative stress and steroidogenesis in human aldosterone-producing adenomas.

Redox biology
2025

Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients.

Medicine
2025

Fertility in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review.

Frontiers in endocrinology
2026

PFOS Disrupts Oocyte Maturation and Early Embryonic Development via Ovarian FOXK1 O-GlcNAcylation in Mice.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

Prenatal perfluorooctanoic sulfonate exposure is associated with polycystic ovary syndrome-like and related traits in female offspring mice.

Molecular and cellular endocrinology
2025

Traditional formulation-Vanari Gutika treatment improves the testosterone biosynthesis and sperm quality in adult male mice.

Journal of complementary & integrative medicine
2026

Endoplasmic reticulum stress and steroidogenic dysfunction in Leydig cells: Molecular mechanisms of UPR-mediated testosterone regulation.

Steroids
2025

Adrenal 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 metabolisme
2026

Vitamin D co-administration mitigates testicular and sperm dysfunction in high fat diet- induced obese mouse model.

The Journal of steroid biochemistry and molecular biology
2025

Oviductus Ranae alleviates D-galactose-induced ovarian aging by inhibiting ferroptosis and regulating the GPX4/ACSL4 pathway.

Journal of ovarian research
2025

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review.

Medicina (Kaunas, Lithuania)
2025

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 sciences
2025

Parthenolide Restores Testosterone Biosynthesis After Nanoplastic Exposure by Blocking ROS-Driven NF-κB Nuclear Translocation.

Antioxidants (Basel, Switzerland)
2026

Molecular mechanisms of ovarian fibrosis.

Molecular human reproduction
2025

[Cogitum in the treatment of mental disorders in childhood].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

Reports (MDPI)
2025

MicroRNAs Regulating Oxidative Stress in Human Fertility: A Narrative Review of Mechanistic Insights and Clinical Potential.

Medical sciences (Basel, Switzerland)
2025

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 biology
2025

Polystyrene 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 materials
2026

Intratracheal perfluorooctane sulfonate induces pulmonary injury via TLRs signaling and disrupts sex steroidogenesis through systemic translocation.

Environmental pollution (Barking, Essex : 1987)
2025

Exploring the therapeutic potential of phytochemicals apigenin and ellagic acid in managing polycystic ovarian syndrome and its comorbidities: a comprehensive review.

Frontiers in endocrinology
2026

Lipopolysaccharide endotoxin triggers inflammatory responses that disrupt granulosa cell function and alter cell growth dynamics.

Reproductive toxicology (Elmsford, N.Y.)
2026

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 ethnopharmacology
2025

Single-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 endocrinology
2025

Ferredoxins: master regulators in mitochondrial redox homeostasis and programmed cell death.

Redox biology
2025

Pancreastatin 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 therapeutics
2025

Genistein mitigates ovarian dysfunction in a PCOS mouse model by regulating steroidogenesis, apoptosis, and PARP-1 signaling.

Reproduction, fertility, and development
2025

MiR-23a represses CELF1 to modulate buffalo granulosa cell apoptosis and steroidogenesis via the PI3K/AKT pathway.

Animal reproduction science
2026

Overexpression of renin-angiotensin system peptides and receptors (OVRAS) in androgen-induced PCOS mouse ovaries.

Journal of assisted reproduction and genetics
2025

Up-regulated WNT5A in PCOS affects steroidogenesis, proliferation and apoptosis of granulosa cells through the PI3K/AKT pathway.

Journal of ovarian research
2025

Targeted 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 sciences
2026

Non-surgical sterilization of male animals using sclerosing agents: A systematic review of intratesticular and intraepididymal injection protocols.

Reproductive biology
2026

Targeted 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 Therapy
2025

Female Mice with HSD17B1 Inactivation Show Mild Hyperandrogenism without Notable Impact on Reproductive Function or Bone.

Endocrinology
2025

Liver impairment and medical management of Cushing syndrome and MACS.

Frontiers in endocrinology
2025

Heat stress and human reproduction: effects and pathogenesis.

Journal of thermal biology
2025

The 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.)
2025

Rapamycin and parenteral administration attenuate the harmful effects of glucocorticoids on the intestinal barrier function.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2025

The ExPAND Study: A Prospective Association Study into Endometriosis-Associated Pain, Neurosteroid Synthesis, and TRPM3.

Biomolecules
2025

Quercetin-loaded mesenchymal stem cell derived extracellular vesicles enhance ovarian function in a cyclophosphamide induced ovarian damage.

Journal of ovarian research
2025

Jiao-tai-wan and its component coptisine attenuate PCOS by regulating mitochondrial cholesterol import through suppression of SIRT1 ubiquitination.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Measurement 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 lab
2025

Medical Therapies of Cushing's Disease-Part 1.

Endocrinology and metabolism clinics of North America
2025

Success of 177Lu-DOTATATE therapy in a metastatic pituitary neuroendocrine tumor.

Endocrine oncology (Bristol, England)
2025

The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.

Development & reproduction
2025

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

Frontiers in endocrinology
2025

Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.

Frontiers in endocrinology
2025

Cholesterol metabolism: molecular mechanisms, biological functions, diseases, and therapeutic targets.

Molecular biomedicine
2026

Osilodrostat-associated Adrenal Gland Shrinkage: A Case Series of Patients With ACTH-dependent Cushing's Syndrome.

The Journal of clinical endocrinology and metabolism
2025

Osilodrostat dose impact on efficacy/safety in Cushing's disease: large, pooled analysis of LINC 2, 3, and 4.

European journal of endocrinology
2025

Update in the Management of ACTH-Secreting Gastroenteropancreatic and Thoracic Neuroendocrine Neoplasms.

Current treatment options in oncology
2025

The Current Treatment Landscape for Congenital Adrenal Hyperplasia.

Drugs
2025

Disrupted rhythms and dysfunction: A chronobiological perspective on polycystic ovary syndrome.

Pathology, research and practice
2025

Prolonged adrenal suppression after osilodrostat discontinuation in a patient with Cushing's disease with eventual hypercortisolism relapse: Case Report and literature review.

Frontiers in medicine
2026

Inhibition 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
2025

[Dilated cardiomyopathy in a patient with Cushing's disease - clinical presentation, diagnosis and treatment: a case report].

Problemy endokrinologii
2025

Genetic variants (LhcgrW495X/+) and environmental toxicants (DEHP) synergistically induce DSD by interfering with steroidogenic gene expression.

Biology of sex differences
2025

Effects of Gossypol Exposure on Ovarian Reserve Function: Comprehensive Risk Assessment Based on TRAEC Strategy.

Toxics
2025

A Pharmacological Dose of Liraglutide Improves Mitochondrial Performance in Mouse Leydig Cells.

International journal of molecular sciences
2025

Morphological and Transcriptomic Analyses of the Adrenal Gland in Acomys cahirinus: A Novel Model for Murine Adrenal Physiology.

Cells
2025

Obesity in reproduction: Mechanisms from fertilization to post‑uterine development (Review).

International journal of molecular medicine
2025

A 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 Danubina
2025

Serum steroid metabolome dynamics in infancy: a longitudinal cohort study of healthy infants.

European journal of endocrinology
2025

A preliminary model to tailor osilodrostat in patients with Adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome.

European journal of endocrinology
2025

Phenotypic variations in polycystic ovary syndrome: metabolic risks and emerging biomarkers.

The Journal of endocrinology
2025

Perinatal neurodevelopmental effects of endocrine disruptors: Insights from metabolome mapping in the rat hippocampus.

Toxicology
2025

Inhibiting the fructose transporter GLUT5 boosts testosterone production in a murine mLTC-1 leydig cell line.

Molecular and cellular endocrinology
2025

Quercetin-cyclodextrin combination effects on cytochrome P450 genes, oxidative stress and ovarian function in PCOS rats.

Steroids
2025

Experience 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 Association
2025

The 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 health
2025

POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).

Reproduction (Cambridge, England)
2025

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

Endocrine journal
2025

NEGR1 deficiency disrupts lipid metabolism and steroidogenesis in Leydig cells, linking testosterone to behavior.

Journal of lipid research
2026

The role of the aryl hydrocarbon receptor in ovarian development, function, xenobiotic metabolism, and disease†.

Biology of reproduction
2025

Interplay of Oxidative Stress, Autophagy, and Rubicon in Ovarian Follicle Dynamics: Orchestrating Ovarian Aging.

Antioxidants (Basel, Switzerland)
2025

N6-Methyladenosine RNA Methylation: A Key Regulator in Male Reproductive Disorders and Urological Cancers.

The world journal of men's health
2025

Macrophages in the male genital tract.

Biomedical journal
2025

Nonclassical Congenital Adrenal Hyperplasia Presenting With Isolated Hirsutism in a Young Adult: A Case Report.

Cureus
2025

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

JCEM case reports
2025

Hypoxia inducible factor 1α-driven steroidogenesis impacts systemic hematopoiesis.

Cellular & molecular biology letters
2025

Transcriptional imprints of prenatal stress: sex- and time-specific signatures in early neurodevelopment.

Brain, behavior, and immunity
2025

Diagnostic Accuracy of Serum Steroids and Peptides in the Evaluation of 46, XY Disorders of Sex Development (DSD).

Clinical endocrinology
2025

Regulation 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 chemistry
2025

Reactivating Circadian Rhythms as a Therapeutic Strategy: Insights from Basic Research.

Biological & pharmaceutical bulletin
2025

Regulatory RNA Networks in Ovarian Follicular Cysts in Dairy Cows: Implications for Human Polycystic Ovary Syndrome.

Genes
2025

Role of AMP-Activated Protein Kinase (AMPK) in Female Reproduction: A Review.

International journal of molecular sciences
2025

Adrenal Dysfunction in Outpatients with Decompensated Cirrhosis: Impairment in the Hypothalamic-Pituitary-Adrenal Axis.

Digestive diseases and sciences
2025

Synthetic microneurotrophins: Neurotrophin receptors for therapeutics of neurodegenerative diseases.

British journal of pharmacology
2025

Long-read sequencing transforms the diagnosis of congenital adrenal hyperplasia: resolving pseudogene interference and structural variations.

Frontiers in pediatrics
2025

Broader impact and outcome of human NR5A1/SF1 variants.

Best practice & research. Clinical endocrinology & metabolism
2025

Prenatal caffeine exposure contributes to adrenal dysfunction of progeny for sex-specific and its 11β-hydroxysteroid dehydrogenase system intrauterine programming mechanism.

Chemico-biological interactions
2025

Management of Osilodrostat Therapy in Patients With Cushing's Syndrome: A Modified Delphi Consensus Panel.

Journal of the Endocrine Society
2025

Mechanisms underlying methamphetamine-induced disruption of testicular integrity.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Adropin mitigates reproductive and metabolic dysfunctions in streptozotocin induced hyperglycemic mice.

The Journal of endocrinology
2025

Normalization strategies in neonatal steroid metabolomics: a comparative analysis of probabilistic quotient and peer group approaches.

Endokrynologia Polska
2025

Androgen Receptor Signalling in Prostate Cancer: Mechanisms of Resistance to Endocrine Therapies.

Research and reports in urology
2025

Genetic profiling of synchronous pituitary corticotroph adenomas.

Pituitary
2025

Mechanistic insight into nanomedicine for polycystic ovary syndrome.

Molecular biology reports
2025

Fermented Morinda citrifolia extract improves late-onset hypogonadism in aged rats.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
2025

Unexpected discrepancies between steroid intra-tissular content in adrenal tumors and clinical diagnosis of steroid excess.

European journal of endocrinology
2025

H3K9me3 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 Biology
2025

Apricot Bee Pollen Alleviates Deoxynivalenol-Induced Cellular Toxicity in Bovine Granulosa Cells.

Animals : an open access journal from MDPI
2025

SARS-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 microbiology
2025

Genome-wide association study and enrichment analysis for clinical health traits in Holstein-Friesian cattle.

Animal : an international journal of animal bioscience
2025

Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.

The Journal of clinical endocrinology and metabolism
2025

Perfluorooctane sulfonate exposure disrupts steroid hormone synthesis in rats via the gut-metabolism-testis axis.

Environmental pollution (Barking, Essex : 1987)
2025

HFPO homologues, the novel alternatives to PFOA, impair male reproduction in mice through inducing mitochondrial dysfunction.

Ecotoxicology and environmental safety
2025

Metabolomic fingerprints of clustered preterm and term neonates - a pilot study.

Frontiers in endocrinology
2025

Acquired 11β-Hydroxylase deficiency in etomidate and (Iso)propoxate abusers: A nascent endocrine condition.

Steroids
2025

The Potential Role of Matrix Metalloproteinase in Polycystic Ovary Syndrome: Implications for Extracellular Matrix Remodeling.

BioFactors (Oxford, England)
2025

Extracellular fluid miRNAs in PCOS.

Clinica chimica acta; international journal of clinical chemistry
2025

Differential Effects of Canonical Androgens and 11-Ketotestosterone on Reproductive Phenotypes and Folliculogenesis in Mouse Model of PCOS.

Biomedicines
2025

PCOS and Inositols - Advances and Lessons We are Learning. A Narrative Review.

Drug design, development and therapy
2025

Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations.

Radiology case reports
2025

[Difficulty with differential diagnosis on adrenal lesions in congenital adrenal cortex dysfunction: a series of clinical cases].

Problemy endokrinologii
2025

DNA methylation and its impact on ovarian steroidogenesis in women with polycystic ovary syndrome: insights from human and animal models.

Archives of gynecology and obstetrics
2025

Gonadotrophs have a dual origin, with most derived from early postnatal pituitary stem cells.

Nature communications
2025

Huangkui 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 ethnopharmacology
2025

Extracellular vesicles therapy alleviates cisplatin-ınduced testicular tissue toxicity in a rat model.

PloS one
2025

Extracellular Vesicles in the Aging Male Reproductive System: Progresses and Perspectives.

Advances in experimental medicine and biology
2025

Effect of Endocrine Disruptors on Testicular Function.

Advances in experimental medicine and biology
2025

Escitalopram, an antidepressant, stimulates steroidogenesis in mouse Leydig cells.

Reproductive toxicology (Elmsford, N.Y.)
2025

Macrophage Regulation of Hypothalamic-Pituitary-Adrenal and Gonadal Axis Homeostasis and Hormonal Output.

Biomedical journal
2025

Perturbing local steroidogenesis to improve breast cancer immunity.

Nature communications
2025

Involvement of cholesterol and ketone bodies in early stages of bovine cystic ovarian disease development.

Domestic animal endocrinology
2025

Consequences of vitamin D deficiency or overdosage on follicular development and steroidogenesis in Normo and hypo calcemic mouse models.

Scientific reports
2025

An expanded metabolic pathway for androgen production by commensal bacteria.

Nature microbiology
2025

Targeting pediatric adrenocortical carcinoma: Molecular insights and emerging therapeutic strategies.

Cancer treatment reviews
2025

A Challenging Case of Congenital Adrenal Hyperplasia Due to CYP11B1 Deficiency With Uncontrolled Hypertension.

Case reports in endocrinology
2025

Quercetin-loaded PEGylated liposomes alleviate testicular dysfunction in alloxan-induced diabetic rats: The role of Kisspeptin/Neurokinin B/Dynorphin pathway.

Toxicology and applied pharmacology
2025

PCOS and genetics: Exploring the heterogeneous role of potential genes in ovarian dysfunction, a hallmark of PCOS - A review.

Reproductive biology
2025

D-chiro-inositol effectively counteracts endometriosis in a mouse model.

Molecular medicine (Cambridge, Mass.)
2025

Steroid Signaling in Autophagy.

Journal of molecular biology
2025

Metabolomic Profiling Reveals Distinct Pathways in Degenerated and Non-Degenerated Rotator Cuff Tears: Implications for Pathogenesis and Treatment.

Current molecular medicine
2025

Regulatory risk loci link disrupted androgen response to pathophysiology of Polycystic Ovary Syndrome.

medRxiv : the preprint server for health sciences
2025

Downregulation of FASN in granulosa cells and its impact on ovulatory dysfunction in PCOS.

Journal of ovarian research
2025

Atp6v0d2 deficiency partially restores defects in Mcoln1-deficient mouse corpus luteum.

Reproductive and developmental medicine
2025

Impact of CYP19A1 genetic variations on polycystic ovary syndrome: findings from a case-control study.

F&S science
2025

Unleashing the pharmacological potential of taste receptors in reproductive processes beyond their gustatory role.

Steroids
2025

Involvement of a Novel Variant of FGFR1 Detected in an Adult Patient with Kallmann Syndrome in Regulation of Gonadal Steroidogenesis.

International journal of molecular sciences
2025

The Ovary as a Target Organ for New Generation Bisphenols Toxicity.

Toxics
2025

Age-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 sciences
2025

Exposure of bovine granulosa cells to lipopolysaccharide reduces progesterone secretion during luteinization†.

Biology of reproduction

Associações

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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. Ectopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.
    International journal of molecular sciences· 2026· PMID 41683619mais citado
  2. Epigenetic Mechanisms of Reproductive Dysfunction Induced by Endocrine-Disrupting Chemicals: Evidence From Molecular Studies.
    Frontiers in bioscience (Landmark edition)· 2026· PMID 41609089mais citado
  3. Clinical features, investigation, and management of Addison's disease.
    The lancet. Diabetes & endocrinology· 2026· PMID 41587556mais citado
  4. Effect of surgical versus conservative management on cardiovascular outcomes in patients with bilateral adrenal tumours and cortisol excess: an international, retrospective cohort study.
    The lancet. Diabetes & endocrinology· 2026· PMID 41579871mais citado
  5. MSI2 expression in single vs. double dominant follicles and its role in Mongolian sheep fecundity.
    Animal reproduction science· 2026· PMID 41564630mais citado
  6. Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.
    Transl Pediatr· 2021· PMID 35070845recente
  7. 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.
    Front Genet· 2020· PMID 32973886recente
  8. Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
    Ann Pediatr Endocrinol Metab· 2020· PMID 32615689recente
  9. Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
    Hum Reprod· 2020· PMID 32242900recente
  10. [A case of Antley-Bixler syndrome caused by novel POR mutations].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi· 2019· PMID 31598952recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:596008(Orphanet)
  2. OMIM OMIM:207410(OMIM)
  3. MONDO:0020667(MONDO)
  4. GARD:22389(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. 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

Compêndio · Raras BR

Síndrome Antley-Bixler sem anomalias genitais ou distúrbio da gênese dos esteroides

ORPHA:596008 · MONDO:0020667
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
MedGen
UMLS
C2936791
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