A síndrome de polineuropatia, deficiência intelectual, mãos e pés pequenos e menopausa precoce é uma síndrome genética rara que causa deficiência intelectual. Ela se caracteriza por: deficiência intelectual, uma doença que afeta vários nervos (polineuropatia), baixa estatura, membros curtos, dedos das mãos e pés curtos (braquidactilia) e falha prematura dos ovários, resultando em menopausa precoce. Apenas um caso familiar, envolvendo três mulheres, foi descrito, e não há outros relatos na literatura médica desde 1971.
Introdução
O que você precisa saber de cara
A síndrome de polineuropatia, deficiência intelectual, mãos e pés pequenos e menopausa precoce é uma condição genética extremamente rara que compromete o desenvolvimento cognitivo e o funcionamento dos nervos do corpo. A família costuma notar baixa estatura, dedos das mãos e pés mais curtos, além de fraqueza nos músculos, dificuldades para caminhar e interrupção precoce das menstruações. Não existe um medicamento curativo dispensado na rede pública nem diretrizes em PCDT oficial do Ministério da Saúde para esta síndrome. O suporte no SUS é realizado por meio de acompanhamento clínico geral e procedimentos de atendimento em reabilitação para doenças raras.
A síndrome de polineuropatia, deficiência intelectual, mãos e pés pequenos e menopausa precoce é uma síndrome genética rara que causa deficiência intelectual. Ela se caracteriza por: deficiência intelectual, uma doença que afeta vários nervos (polineuropatia), baixa estatura, membros curtos, dedos das mãos e pés curtos (braquidactilia) e falha prematura dos ovários, resultando em menopausa precoce. Apenas um caso familiar, envolvendo três mulheres, foi descrito, e não há outros relatos na literatura médica desde 1971.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de polineuropatia-perturbação do desenvolvimento intelectual-acromicria-menopausa precoce
Centros de Referência SUS
13 centros habilitados pelo SUS para Síndrome de polineuropatia-perturbação do desenvolvimento intelectual-acromicria-menopausa precoce
Centros para Síndrome de polineuropatia-perturbação do desenvolvimento intelectual-acromicria-menopausa precoce
Detalhes dos centros
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Design and in vitro/in vivo evaluation of a compound estradiol-progesterone patch for the treatment of menopausal syndrome.
Transdermal estradiol patches have been widely used for the prevention and treatment of ovarian insufficiency. However, they should not be used alone and must be combined with adequate progestin therapy for a full course to provide sufficient endometrial protection. This study aimed to develop a compound estradiol-progesterone transdermal patch by incorporating progesterone into the estradiol patch to reduce the number of medications administered, and to evaluate its feasibility and efficacy. Key excipients in the patch, including pressure-sensitive adhesive, permeation enhancers, and plasticizers, were screened and optimized. The optimal patch formulation was selected based on evaluation criteria including adhesion, cumulative release rate, cumulative permeation, and appearance. Subsequently, a menopausal rat model was established to conduct single-dose pharmacokinetic studies and multiple-dose pharmacodynamic evaluations, comparing results with a commercial estradiol patch and progesterone injection. Results demonstrated that the prepared patches exhibited good conformability and adhesion. The cumulative release rate of E2 over 72 hours was 94.58%, with a cumulative permeation rate of 154.56 μg·cm-2 over 24 hours. These results are comparable to those of commercially available estradiol patches, which exhibit a 72-hour cumulative release rate of 90.02% and a 24-hour cumulative permeation rate of 148.69 μg·cm-2. P4 exhibited a 72-hour cumulative release rate of 92.45% and a 24-hour cumulative permeation rate of 104.92 μg·cm-2, achieving the clinically effective dose threshold. The time to peak concentration and residence time for a single application were longer than those of ESTRANA® Tapes and progesterone injection. Compared with the model group, the combined administration group showed a significantly increased uterine coefficient without the abnormal endometrial thickening observed after using estradiol patches alone. This patch achieves synchronized delivery of estrogen and progesterone, meeting the clinical demand for long-acting hormone therapy.
Efficacy and security of traditional Chinese medicine in the treatment of perimenopausal insomnia in the Chinese population: a systematic review and meta-analysis of randomized controlled trials.
Traditional Chinese medicine (TCM) has been widely applied in the management of perimenopausal insomnia (PMI), yet comprehensive evidence on its efficacy and safety remains insufficient. We aimed to systematically evaluate the therapeutic effects and safety of TCM interventions in PMI treatment. Randomized controlled trials (RCTs) that compared TCM interventions with Western medicine for patients with PMI were searched across eight databases from inception to August 1, 2025. Methodological quality, risk of bias, and certainty of evidence were assessed using the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines and Grading of Recommendations Assessment, Development and Evaluation (GRADE) framework. Meta-analysis was performed using RevMan 5.4 and R 4.4.2 software. A total of 48 RCTs involving 5,037 patients were included. Meta-analysis showed that TCM was superior to Western medicine in overall efficacy (RR = 1.20, 95% CI [1.17, 1.23]) and had fewer adverse reactions (RR = 0.30, 95% CI [0.24, 0.38]). Besides, TCM interventions significantly improved Pittsburgh Sleep Quality Index (PSQI) score (MD = -2.57, 95% CI [-3.01, -2.14]), reduced luteinizing hormone (LH) (MD = -4.51, 95% CI [-6.15, -2.87]) and follicle-stimulating hormone (FSH) (MD = -8.67, 95% CI [-10.96, -6.38]), increased estradiol (E2) level (MD = 9.64, 95% CI [7.45, 11.82]), and decreased Kupperman Menopausal Index (KMI) score (MD = -6.01, 95% CI [-8.56, -3.47]), Traditional Chinese Medicine Syndrome (TCMS) score (SMD = -2.27, 95% CI [-3.49, -1.05]), Self-Rating Anxiety Scale (SAS) score (MD = -4.77, 95% CI [-5.77, -3.76]), and Self-Rating Depression Scale (SDS) score (MD = -2.96, 95% CI [-5.80, -0.12]). TCM interventions demonstrate notable efficacy and safety in managing PMI by improving sleep quality, hormonal balance, and mental health. However, methodological limitations and heterogeneity warrant further validation through large-scale, multicenter, rigorously designed RCTs. PROSPERO registration number CRD420251127129.
Impact of fractional CO2 laser therapy on vaginal wall histology in breast cancer survivors.
To investigate histological changes in the vaginal wall of breast cancer survivors (BCSs) with genitourinary syndrome of menopause (GSM) treated with five sessions of fractional CO₂ vaginal laser therapy, focusing on epithelial morphology and stromal extracellular matrix composition. In this prospective single-center study, 26 BCSs underwent five sessions of fractional CO2 vaginal laser therapy. Vaginal punch biopsies were collected at baseline and four to six weeks after completing the final session. Mucosal morphology was classified (Type 1, 2, or 3) independently by two pathologists, blinded to baseline and follow-up status. Stromal elastin, total collagen, and collagen types I and III were quantified by digital image analysis of Verhoeff-Van Gieson, Masson's trichrome, and immunohistochemistry. Paired tests and the Stuart-Maxwell test evaluated changes over time. At baseline, 42.3% of participants were classified as Type 1, 19.2% as Type 2, and 38.5% as Type 3 mucosal morphology. Elastin index increased from 33.1% to 56.8% (p < 0.01), and collagen type III index from 44.5% to 58.4% (p = 0.03), while total collagen and collagen type I showed no significant change. No significant differences in epithelial microscopic features were observed (Stuart-Maxwell p = 0.16). Fractional vaginal CO₂ laser therapy was associated with selective stromal remodelling in BCSs - higher elastin and collagen type III indices, but without detectable improvement in epithelial morphology. Given the absence of a control group, the short follow-up, and limited epithelial morphometry due to section orientation, these findings should be interpreted as preliminary histological evidence of a stromal response rather than a confirmation of functional or regenerative benefit. Registry: ClinicalTrials.gov, TRN: (NCT06007027). Registration date: 1 August 2023.
Effect of Bioptron light therapy on dryness of eyes in postmenopausal women: a randomized controlled trial.
To examine the short-term therapeutic effects of Bioptron light therapy (BLT) on dry eye disease (DED) in postmenopausal women. Sixty postmenopausal women diagnosed with DED, aged 50-62 years with a body mass index ≤ 30 kg/m², were randomly assigned to two equal groups. The Bioptron group (n = 30) received BLT for 10 min, twice weekly, along with an educational program for four weeks. The control group (n = 30) received the same educational program only. Outcomes were measured using Schirmer's test (Schirmer I) for basal tear secretion, Tear Break-Up Time (TBUT) for tear film stability, and the Dry Eye-related Quality of Life Score (DEQS) for quality of life (QOL). Both groups exhibited significant improvements post-treatment compared to pre-treatment in all variables, with greater percentage changes from baseline in the BLT group. Between-group comparisons revealed significantly higher improvements in the BLT group: Schirmer's test (Schirmer I) improved by MD = 8.7 (95% CI: 7.64-9.76; p = 0.001), TBUT by MD = 2.97 (95% CI: 1.7-4.3; p = 0.007), and DEQS decreased by MD = - 24.1 (95% CI: -37 to - 17.1; p = 0.002). Compared with standardized education alone, adjunctive Bioptron light therapy significantly enhanced tear secretion, tear film stability, and patient-reported symptoms, suggesting its potential as an effective non-pharmacological option for managing dry eye in postmenopausal women. The trial was registered at Clinical Trials.gov (Identifier: NCT05964673).
Acute Coronary Syndromes in Premenopausal Women: A Scientific Statement From the American Heart Association.
Premenopausal women presenting with acute coronary syndrome (ACS) are a unique and often underrecognized patient population. Although they are traditionally considered at lower cardiovascular risk than other groups, we have begun to appreciate the potential risk for ACS in this younger subset of women. Whereas atherosclerotic disease (obstructive or nonobstructive) accounts for most presentations, a substantial number are attributable to nonatherosclerotic causes, including spontaneous coronary artery dissection, epicardial coronary artery spasm, and coronary embolism. A major challenge at present is the lack of specific data and evidence for the diagnosis and management of these women. Unfortunately, as a result of several factors, diagnostic delays, misclassification, and mistreatment appear to be more frequent than for other patient groups. Of great concern, younger women less often receive guideline-directed therapies after ACS, and younger women with ACS have been shown to have worse outcomes than young men with ACS. Management should be tailored to the unique pathophysiology in premenopausal women, emphasizing early diagnosis, a low threshold for invasive angiography if appropriate, and special consideration in the pregnant patient. Secondary prevention must address traditional cardiovascular and disease-specific risk factors, with consideration of current or future pregnancies and lactation. Participation in cardiac rehabilitation is associated with improved outcomes and must be strongly encouraged, whereas attention to potential post-ACS depression and anxiety is an important aspect of holistic care. Increased patient and health care professional awareness and improved representation in research are critical to closing the knowledge and outcome gaps in premenopausal women with ACS.
Publicações recentes
Short-term outcomes and tolerability of a hyaluronic acid-based vaginal gel in the management of genitourinary syndrome of menopause: a retrospective observational study.
Vaginal pixel CO2 laser versus topical use of promestriene for genitourinary syndrome of menopause.
Treating Genitourinary Syndrome of Menopause in Postmenopausal Women with a History of Breast Cancer.
Female Underweight/Undernutrition Syndrome (FUS): An Emerging Health Concept in Premenopausal Women - Secondary Publication (English Translation of the Japanese Statement).
Effectiveness of radiofrequency therapy combined with pelvic floor muscle training in breast cancer survivors with genitourinary syndrome of menopause: a study protocol.
📚 EuropePMCmostrando 200
[Preventing dementia in an ageing society].
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International journal of women's healthLifestyle and Complementary Approaches to Polycystic Ovary Syndrome During Perimenopause and Menopause A Scoping Review.
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Frontiers in oncologyLate Cervical Recurrence of Invasive Lobular Carcinoma Ten Years After Primary Breast Cancer: A Case Report and Review of the Literature.
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Menopause (New York, N.Y.)Decision-making surrounding ovarian cancer risk-reducing surgery: perspectives from a diverse population.
Menopause (New York, N.Y.)Effects of ovariectomy of rat on tongue neuropathy: Relevance to burning mouth syndrome.
Journal of dental sciences[Optical Coherent Tomography: A Tool for Non-Invasive Biopsy in Women's Health].
HarefuahAssociations between Premature Menopause and Cardiovascular-Kidney-Metabolic Syndrome: A Prospective Cohort Study from the UK Biobank.
Biomedical and environmental sciences : BESHormone Replacement Therapy and Cardiovascular Outcomes by Race and Ethnicity: MESA (Multi-Ethnic Study of Atherosclerosis).
JACC. AdvancesTriglyceride-glucose index and cardiovascular disease by cardiovascular-kidney-metabolic syndrome and socioeconomic status among postmenopausal women.
Atherosclerosis[Clinical and histological evaluation of fractional CO2 laser treatment for genitourinary syndrome of menopause].
Gynecologie, obstetrique, fertilite & senologieHereditary Risk Assessment of Cancer Using Clinical History in Patients Diagnosed with Breast or Ovarian Cancer Receiving Treatment at Tertiary Care Hospital in Western Rajasthan - A Cross-sectional Study.
Annals of African medicineFrom menarche to menopause: estrogenic influences on stroke-related depression in women.
Frontiers in neuroendocrinologyThe uptake rate of risk-reducing salpingo-oophorectomy among Thai women with breast cancer and germline BRCA pathogenic or likely pathogenic variants.
European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP)Evaluation of symptom improvement over time after fractional CO2 laser therapy in women with genito-urinary syndrome.
Journal of gynecology obstetrics and human reproductionQuantitative Systems Toxicology Modeling with DILIsym to Support Phase 3 Dose Selection for Fezolinetant.
Clinical pharmacology and therapeuticsAtypical Polypoid Adenomyoma in a Patient with Hyperprolactinemia: a Novel Case and Systematic Review of the Systematic Reviews.
MaedicaBeyond malignancy: Unravelling the Enigma of Meigs syndrome in ovarian fibroma.
Tropical doctorIngenol-Mediated SIRT1-LXRα Signaling Reduces Lipid Accumulation and Alleviates Postmenopausal Liver Damage.
Phytotherapy research : PTRSex Differences in Atherosclerosis and its Clinical Complications.
Current atherosclerosis reportsTranslational Lifestyle Medicine Approaches to Cardiovascular-Kidney-Metabolic Syndrome.
Healthcare (Basel, Switzerland)Metabolic Health Differences Among Women of Age-Based Pre-, Peri-, and Post-Menopausal Stages.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists[Randomized, double-blind, double-simulated, parallel controlled clinical trial of Dingkundan Oral Liquid in treating primary dysmenorrhea with cold coagulation and blood stasis].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaEffects of a combined training program on lipid metabolism metabolic syndrome and physical fitness in perimenopausal Chinese female teachers.
Scientific reportsMenopausal transition and metabolic syndrome risk: insights from the Chinese PALM longitudinal cohort.
Climacteric : the journal of the International Menopause SocietyUrobiome Analysis in Interstitial Cystitis/Bladder Pain Syndrome Reveals Nuanced Differences Associated with Localized Pain.
bioRxiv : the preprint server for biologyTreatment patterns for genitourinary syndrome of menopause: a TriNetX analysis.
The Canadian journal of urology[Menopause, hormone therapy and cardiovascular risk].
Medecine sciences : M/SThe broader implications of menstrual health in eating disorders: Matters Arising from Porter (2025).
Journal of eating disordersDistinguishing Polycystic Ovary Syndrome Phenotype D from Functional Hypothalamic Amenorrhea with Polycystic Ovarian Morphology: Clinical and Hormonal Insights from a Pilot Retrospective Study.
Journal of menopausal medicineBioactive Compounds in Natural Remedies and Functional Foods for Managing Recurrent Urinary Tract Infections in Postmenopausal Women.
Journal of menopausal medicineBibliometric analysis of scientific publications on the effects of rangeland and wild plants on women's health.
African journal of reproductive healthAnti-aging effects of the adrenal androgens dehydroepiandrosterone and dehydroepiandrosterone sulfate: mechanisms of action and beneficial effects in older people.
Endocrine journalInsulin levels early in perimenopause inform vasomotor symptom incidence across the menopausal transition.
The Journal of clinical endocrinology and metabolismSex differences in low arousal threshold in obstructive sleep apnea.
Respiratory medicineHormones, heat, and health: a comprehensive review of sex-based differences in brown and beige fat biology.
Biology of sex differencesPostmenopausal labial adhesion: A 5-stage classification system and clinical outcomes in a 14-patient series.
MaturitasTopical Spermidine Hyaluronate (Spd-HA) in Vulvovaginal Atrophy: A Preliminary Study.
Medicina (Kaunas, Lithuania)Feasibility of Multimodal Energy-Based Therapy for Pelvic Floor Disorders.
Medicina (Kaunas, Lithuania)Integrating obesity management into menopause care recommendations comments on the 2025 European Society of Endocrinology clinical practice guideline for evaluation and management of menopause and the perimenopause.
European journal of endocrinologyPrevalence of hysterectomy in urban China and associations between metabolic disorders and hysterectomy: a multicenter population-based study involving over 9 million women.
BMC medicineThe Effects of Health Literacy, Social Support, and Health-Promoting Behaviors on Metabolic Syndrome Among Middle-Aged and Older Women Living in Rural Areas of Republic of Korea.
Healthcare (Basel, Switzerland)Clinical, Biochemical, and Psychological Predictors of Metabolic Syndrome in Climacteric Women.
Healthcare (Basel, Switzerland)Metabolic obesity phenotypes and breast cancer risk before and after menopause: A nationwide cohort study in South Korea.
CancerThe human ovarian reserve: the narrative and the science.
Human reproduction updateNon-hormonal vaginal gel improves vaginal and sexual health in menopausal women: results from a 6-month prospective study.
European journal of obstetrics, gynecology, and reproductive biologyAssociations between depressive trajectories and progression to type 2 diabetes mellitus in postmenopausal women with prediabetes: Findings from a national ten-year follow-up study.
Journal of affective disordersSex-Specific Impact of Metabolic Syndrome on Brain Structures Vulnerable to Alzheimer's Disease: A Cross-Sectional Study in a Brazilian Cohort.
Brain sciencesInternational Menopause Society (IMS) recommendations and key messages on women's midlife health and menopause.
Climacteric : the journal of the International Menopause SocietyManagement of Genitourinary Syndrome of Menopause in Korean Breast Cancer Survivors by Fractional CO₂ Laser Treatment.
Yonsei medical journalDuhuo Jisheng Decoction mitigates postmenopausal rheumatoid arthritis by suppressing eEF2K-mediated cellular senescence.
Pharmacological researchStrategies for Treating Sexual Health Concerns After Breast and Gynecologic Cancer.
Journal of minimally invasive gynecologyRandomized clinical trial of vaginal microbiota in menopausal genitourinary syndrome using radiofrequency and topical estriol.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaHormone replacement therapy in gynecologic cancer: oncologic safety and alternative therapies.
International journal of gynecological cancer : official journal of the International Gynecological Cancer SocietyRisk Factors Associated With the Number of Symptoms and Distress Caused by Genitourinary Syndrome of Menopause in Taiwanese Women.
The Kaohsiung journal of medical sciencesUnderdiagnosed and overmedicated: Investigating the management of urinary tract infection and vaginal estrogen use in a large cohort of postmenopausal women.
MaturitasSafety and performance of photobiomodulation delivered by vaginal probe in patients with genitourinary syndrome of menopause.
Climacteric : the journal of the International Menopause SocietyPrevalence of metabolic syndrome among Iranian postmenopausal females: A systematic review and meta-analysis.
PloS oneVaginal Estrogen Utilization Among Medicare Beneficiaries With Genitourinary Syndrome of Menopause.
JAMA network openLimosilactobacillus reuteri NCU-37 alleviates leuprorelin-induced perimenopausal syndrome in infertile women by modulating the gut microbiota: a randomized controlled trial.
Food & functionWeight Management Through a Woman's Life Stages: A Practical Evidence-Based Guide.
Journal of women's health (2002)Longitudinal study of plasma metabolites during menopause and their associations with later onset of metabolic syndrome.
The Journal of clinical endocrinology and metabolismFDA Boxed Warning Removal on Menopause Hormone Therapy: What Geriatricians Should Know.
Journal of the American Geriatrics SocietyChai-shen powder treated perimenopausal syndrome through the PI3K-Akt/cAMP signaling pathway: integrated clinical analysis, network pharmacology, microRNA and animal experiment.
Climacteric : the journal of the International Menopause SocietyWhen Should We Biopsy? A Risk Factor-Based Predictive Model for EIN and Endometrial Cancer.
CancersAssociation between BMI trajectories and metabolic syndrome in postmenopausal women: a cross-sectional study from NHANES 1999-2018.
BMC public healthTransitions in metabolic syndrome clustering patterns before and after menopause: a latent transition analysis in Korean women.
Menopause (New York, N.Y.)The effect of inflammation on sexual desire and sexual function in pre- and post-menopausal women is moderated by sexual violence history.
The journal of sexual medicineThe Vaginal Microbiome and Recurrent and Chronic Urinary Tract Infection.
International urogynecology journalNarrative Review of Clinical Indices and Imaging Tools, With a Proposal for an Integrative Grading Scale for Vulvovaginal Aging.
CureusNovel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.
JCEM case reportsImpact of vaginal estradiol on the genitourinary syndrome of menopause, vaginal microbiome and mucosal immune mediators in women living with HIV.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of AmericaThe effect of hormone replacement therapy on musculoskeletal pain in menopausal women: A systematic review and meta-analysis.
Post reproductive healthPREVALENCE OF 25-HYDROXYCHOLECALCIFEROL DEFICIENCY AND METABOLIC SYNDROME IN CROATIAN WOMEN WITH NEWLY DIAGNOSED BREAST CANCER.
Acta clinica CroaticaSynthesizing the latest guideline-based recommendations for the management of female hypogonadism.
Archives of endocrinology and metabolismAre Hormones a risk or an opportunity? Strategies for managing women predisposed to gynecological cancers.
MaturitasThe effect of age on the clinical presentation and treatment of women with psychosis: secondary analysis of the IMPaCT Randomised Clinical Trial.
BJPsych openSea urchin bioactive compounds: emerging interventions for age-related diseases.
Ageing research reviewsPrecision pharmacology in menopause: advances, challenges, and future innovations for personalized management.
Frontiers in reproductive healthDevelopment and validation of an integrated preclinical model mimicking cardiometabolic risk in postmenopausal female rats.
Scientific reportsGenitourinary syndrome of menopause induced by breast cancer treatments: a randomised clinical trial protocol comparing multimodal pelvic floor physiotherapy and fractional CO2 laser therapy (PILME study).
BMJ openGenitourinary syndrome of menopause.
The British journal of general practice : the journal of the Royal College of General PractitionersMenopausal Hormone Therapy-Risks, Benefits and Emerging Options: A Narrative Review.
International journal of molecular sciencesMenopause as a critical window for cardiovascular-kidney-metabolic syndrome prevention: a call for integrated women's health approaches.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyIs There Evidence of Diagnostic and Treatment Gaps for LUTS in Post-Menopausal Women With Genitourinary Syndrome of the Menopause? ICI-RS 2025.
Neurourology and urodynamicsA pilot study of vaginal nerve fiber and blood vessel density in postmenopausal women with genitourinary syndrome of menopause.
Menopause (New York, N.Y.)Musculoskeletal disorders following hysterectomy with ovarian conservation: a population-based cohort study.
Menopause (New York, N.Y.)Citri Reticulatae Pericarpium improves obesity in OVX mice by regulating the gut microbiota and suppressing appetite.
Food & functionExploring the association between polycystic ovary syndrome and female sexual dysfunction: a cross-sectional study.
Reproductive biology and endocrinology : RB&EFrom physiology to psychology: An integrative review of menopausal syndrome.
World journal of psychiatryVaginal epithelial estrogen receptor α coordinates glycogen deposition, microbial stability, and pH regulation in mice.
bioRxiv : the preprint server for biologyCoenzyme Q10 ameliorates obesity by promoting white adipose tissue browning and preserving mitochondrial dynamics in ovariectomized rats fed a high-fat diet.
The Journal of nutritional biochemistryRegenerative Effect of Vaginal Injections of Umbilical Cord Mesenchymal Stem Cell-Derived Exosomes in Ovariectomized Rats.
Aesthetic plastic surgeryAdaptation of the Genitourinary Syndrome of Menopause Symptoms and Vaginal Treatments Acceptability Questionnaire Into Turkish.
International urogynecology journalInvestigating biochemical markers of Acupuncture's effectiveness in managing climacteric syndrome in breast cancer patients: the FLAIR study.
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerThe evolution of the global disease burden of polycystic ovary syndrome and the role of regional heterogeneity in high body mass index exposure: a spatiotemporal analysis based on the global burden of disease 2021.
Frontiers in reproductive health[Case of head-facial herpes zoster in perimenopausal women using Zheng's cold reducing acupuncture as primary treatment].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionImpact of a yoga intervention over 6, 12, and 24 months in sedentary climacteric women with metabolic syndrome.
Complementary therapies in medicineGynecologic Cancers: Endometrial Cancer.
FP essentialsAssociation between relative handgrip strength and metabolic syndrome in Korean postmenopausal women by time since menopause.
Menopause (New York, N.Y.)The association between metabolic syndrome and incidence of endometrial cancer: a meta-analysis.
Diabetology & metabolic syndromeLaser and radiofrequency for treating genitourinary syndrome of menopause in breast cancer survivors: A systematic review of randomized controlled trial.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsA case of congenital long QT syndrome and medically induced menopause.
Post reproductive healthHRT-induced primary headache associated with sexual activity: A case report.
Post reproductive healthInvoluntary Urine Loss in Menopause-A Narrative Review.
Journal of clinical medicineCeramide as a Biomarker for HFpEF in Women: Menopause, Aging, and Pregnancy.
International journal of molecular sciencesMore than just "vaginal dryness": sexual dysfunction correlates with genitourinary anatomy changes in female cancer survivors.
Supportive care in cancer : official journal of the Multinational Association of Supportive Care in CancerWomen's knowledge, attitudes, and practices regarding perimenopausal syndrome in China.
BMC public healthManagement of sexual dysfunction in menopause: an update on evidence-based strategies.
Expert review of endocrinology & metabolismTREM2 expressing macrophages are not associated with prognostic markers or metabolic syndrome in early stage ER positive breast cancer.
Scientific reportsEffect of Danlu capsules for the treatment of breast hyperplasia with mastalgia: a multicenter, double-blind, randomized controlled trial protocol.
Frontiers in medicineAssociation between serum uric acid levels and primary aldosteronism.
BMC nephrologyAssociation between metabolic syndrome and risk of cardiovascular disease among postmenopausal women: A cohort study.
Diabetes, obesity & metabolismClinical, Metabolic, and Sonographic Predictors of Endometrial Carcinoma Among Women Presenting With Postmenopausal Bleeding: A Prospective Observational Study From a Tertiary Care Center in South India.
CureusAssociation between central adiposity and cognitive domain function in recently postmenopausal women: an analysis from the KEEPS-Cog substudy of the Kronos Early Estrogen Preventive Study.
Menopause (New York, N.Y.)Salpingectomy in individuals at high risk for tubo-ovarian cancer: consensus and precaution.
American journal of obstetrics and gynecologyHealthy aging in midlife and menopausal transition in Asia: nutrient synergy with dietary supplements.
Climacteric : the journal of the International Menopause SocietyEffect of kisspeptin, neurokinin, and dynorphin neurons on regulation of reproduction.
Ceska gynekologiePlatelet-rich plasma in the management of vulvovaginal disorders: a systematic review.
The journal of sexual medicineEfficacy of acupuncture as an adjunctive therapy for perimenopausal insomnia: A systematic review and meta-analysis of randomized controlled trials.
Clinics (Sao Paulo, Brazil)Clinical practice perspectives on adipose-derived stem cells and platelet-rich plasma for female infertility treatments.
Future science OAUnmet needs after prevention: a model for managing premature surgical menopause post-risk-reducing bilateral salpingo-oophorectomy.
Gynecologic oncology reportsEstrogenic Effect of Probiotics on Anxiety and Depression: A Narrative Review.
International journal of molecular sciencesMetabolic Syndrome and Breast Cancer Risk: an Age-Dependent Paradox?
Cardiovascular drugs and therapyMultimodal large language models for women's reproductive mental health.
Archives of women's mental healthChinese herbal medicine Ding Kun Dan for menopausal syndrome: A systematic review and meta-analysis of randomized controlled trials.
Integrative medicine researchEffect of vaginal laser therapy for gynecologic patients on vaginal microbiota: a prospective cohort study.
Lasers in medical sciencePelvic Puzzles: Imaging Non-Traumatic Emergencies of the Female Pelvis: A Comprehensive Review.
Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistesGenitourinary syndrome of menopause in Chinese-speaking sex workers attending an urban Australian sexual health clinic: a quality improvement project.
Sexual healthHormonal risk factors and androgen and glucocorticoid dysregulation in Sjogren's disease and non-Sjogren's sicca.
Rheumatology (Oxford, England)Geriatric syndromes in women living with HIV.
Current opinion in HIV and AIDSOsteo-sarcopenic obesity in midlife and older women: a current worldwide public health challenge.
Climacteric : the journal of the International Menopause SocietyReproductive Fitness and the Links to Chronic Disease and Systemic Aging.
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É uma síndrome malformativa rara que combina doença nos nervos periféricos (polineuropatia), deficiência intelectual e falência ovariana prematura. Também acarreta membros curtos, dedos encurtados e baixa estatura, tendo início registrado na fase adulta.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Síndrome de polineuropatia-perturbação do desenvolvimento intelectual-acromicria-menopausa precoce. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-de-polineuropatia-perturbacao-do-desenvolvimento-intelectual-acromicria-menopausa-precoce
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome de polineuropatia-perturbação do desenvolvimento intelectual-acromicria-menopausa precoce
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub