Introdução
O que você precisa saber de cara
Transtornos do neurodesenvolvimento são um grupo de transtornos mentais relacionados causalmente ao mau desenvolvimento do sistema nervoso, que inclui o cérebro e a medula espinhal. De acordo com o Manual Diagnóstico e Estatístico de Transtornos Mentais, Quinta Edição (DSM-5), da Associação Americana de Psiquiatria, publicado em 2013, essas condições geralmente aparecem na primeira infância, normalmente antes de as crianças começarem a escola, e podem persistir na idade adulta. A característica principal de todos esses transtornos é que eles impactam negativamente o funcionamento de uma pessoa em um ou mais domínios da vida, dependendo do transtorno e dos déficits que ele causou.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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. Padrão de herança: Autosomal recessive.
Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors (PubMed:33122427). Acts as a regulator of the unfolded protein response (UPR) (By similarity)
Endoplasmic reticulum membrane
Microcephaly, epilepsy, and diabetes syndrome 1
An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.
Plays a role in transport between endoplasmic reticulum and Golgi. In pancreatic beta cells, required to transport proinsulin from endoplasmic reticulum into the Golgi (PubMed:33164986)
Endoplasmic reticulum membraneGolgi apparatus, cis-Golgi network membraneCytoplasmic vesicle, COPII-coated vesicle
Microcephaly, epilepsy, and diabetes syndrome 2
An autosomal recessive disorder characterized by neonatal or early-onset diabetes, severe microcephaly, and epilepsy.
Variantes genéticas (ClinVar)
65 variantes patogênicas registradas no ClinVar.
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 microcefalia primária – epilepsia – diabetes neonatal permanente
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Oxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory.
Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder with a characteristic trajectory. Infants display hypotonia, poor social and feeding skills, and high risk of choking, which have been shown to improve after oxytocin (OT) treatment. Our aim is to demonstrate the efficacy of intranasal OT treatment administered in the postnatal critical period on infant feeding skills and document its long-term effects. We enrolled 52 infants with PWS (median age 2.2 months) in a European double-blind randomized placebo-controlled study. Infants were randomly assigned in a 1:1 ratio to either 4 IU/day of OT or placebo for a 4-week evaluation of efficacy. A second randomization in each group was performed. Infants in the placebo group were randomized into 4 weeks of OT followed by 4 weeks of placebo or 8 consecutive weeks of OT. Those in the OT group were randomized into additional 4 weeks of OT followed by 4 weeks of placebo or 8 consecutive weeks of placebo. Infants were followed-up to 26 weeks from baseline. Feeding skills were evaluated using Neonatal Oral-Motor Scale (NOMAS) as primary endpoint and videofluoroscopy of swallowing study (VFSS) as key secondary endpoint. Subsequently, 40 infants included in France (OT-exposed cohort) participated in a new study to document long term safety of OT treatment and to compare them with an unexposed cohort (n = 24) at about 3 years of age. Prevalence and severity of comorbidities of the disorder were compared between the two cohorts. OT was well tolerated. At 4 weeks, NOMAS normalization rates were similar between OT and placebo, but OT yielded a higher VFSS responder rate (53.3% vs 16.7%, p = 0.05) and a greater reduction in VFSS total score (LS mean difference −1.55; 95% CI −2.9 to −0.2; p = 0.03). At 3 years, the OT-exposed cohort demonstrated consistently better motor, adaptive and behavioral outcomes than unexposed controls. The primary endpoint did not show significant difference between OT and placebo groups. However, using VFSS we showed for the first time a positive effect of 4 weeks intranasal OT treatment on swallowing. We also document long-term effect on disease trajectory, with less severe comorbidities. The online version contains supplementary material available at 10.1186/s13023-026-04214-8.
Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
To update evidence-based management recommendations for clinicians caring for children (including infants, school-aged children, and adolescents) with sepsis or septic shock. A panel of 68 international experts, representing 13 international organizations, as well as six methodologists, was convened. A formal conflict-of-interest policy was developed at the onset of the process and applied throughout. Teleconferences and electronic-based discussion among the chairs, co-chairs, methodologists, and subgroup leads, as well as within subgroups, served as an integral part of the guideline development process. New priority topics and recommendations from the prior guideline iteration were used to identify Population, Intervention, Control, and Outcomes (PICO) questions likely to have new or updated evidence. We conducted a systematic review to identify the best available evidence, summarized the evidence, and then assessed the quality of evidence using the Grading of Recommendations, Assessment, Development, and Evaluation approach. We used the evidence-to-decision framework to formulate recommendations as strong or conditional, or as a good practice statement. "In our practice," statements were included when evidence was inconclusive to issue a recommendation, but the panel felt that some guidance based on practice patterns may be appropriate. The panel provided 61 statements on the management of children with sepsis or septic shock. Overall, five were strong recommendations, 24 were conditional recommendations, and ten were good practice statements. For 22 PICO questions, no recommendations could be made, but for seven of these, "in our practice" statements were provided. Compared with the 2020 guidelines, 20 recommendations were new, 13 were updated for clarity and/or new evidence, six were reviewed but not changed, and 22 were carried forward based on consensus of the panel that new evidence was not available. Only three recommendations were based on high or moderate certainty of evidence. Updated management guidelines were issued by a panel of international experts for the best care of children with sepsis or septic shock, acknowledging that most aspects of care continue to have relatively low quality of evidence.
Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
To update evidence-based management recommendations for clinicians caring for children (including infants, school-aged children, and adolescents) with sepsis or septic shock. A panel of 68 international experts, representing 13 international organizations, as well as six methodologists, was convened. A formal conflict-of-interest policy was developed at the onset of the process and applied throughout. Teleconferences and electronic-based discussion among the chairs, co-chairs, methodologists, and subgroup leads as well as within subgroups, served as an integral part of the guideline development process. New priority topics and recommendations from the prior guideline iteration were used to identify Population, Intervention, Control, and Outcomes (PICO) questions likely to have new or updated evidence. We conducted a systematic review to identify the best available evidence, summarized the evidence, and then assessed the quality of evidence using the Grading of Recommendations, Assessment, Development, and Evaluation approach. We used the evidence-to-decision framework to formulate recommendations as strong or conditional, or as a good practice statement. "In our practice," statements were included when evidence was inconclusive to issue a recommendation but the panel felt that some guidance based on practice patterns may be appropriate. The panel provided 61 statements on the management of children with sepsis or septic shock. Overall, five were strong recommendations, 24 were conditional recommendations, and ten were good practice statements. For 22 PICO questions, no recommendations could be made, but, for seven of these, "in our practice" statements were provided. Compared with the 2020 guidelines, 20 recommendations were new, 13 were updated for clarity and/or new evidence, six were reviewed but not changed, and 22 were carried forward based on consensus of the panel that new evidence was not available. Only three recommendations were based on high or moderate certainty of evidence. Updated management guidelines were issued by a panel of international experts for the best care of children with sepsis or septic shock, acknowledging that most aspects of care continue to have relatively low quality of evidence.
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, international pilot programs-many coordinated within the International Consortium on Newborn Sequencing (ICoNS)-are evaluating genome-based NBS (gNBS) as a preventive public health strategy. We reviewed published international gNBS pilot studies, with particular attention to discussions related to endocrine disorders. We integrated insights from the French PERIGENOMED-CLINICS 1 (PGC1) project, including its curated gene list and collaboration mainly with the FIRENDO French network dedicated to rare endocrine diseases. No publications were identified specifically addressing gNBS in rare pediatric endocrine diseases as a unified domain. In comparative analyses of gNBS pilot programs, endocrine disorders represented approximately 10% of included conditions, with marked heterogeneity across initiatives and no primary endocrine disorder uniformly retained. Analysis of the PGC1 dataset identified 125 endocrine and endocrine-adjacent gene-disease dyads (14% of all project dyads), divided into list 1 ("treatable", n = 62) and list 2 ("actionable", n = 63). List 1 predominantly included early-onset, hormonally driven disorders, whereas list 2 extended toward obesity-related and multisystem syndromic conditions. Stratification by clinical actionability revealed four categories ranging from time-critical neonatal conditions to surveillance-driven and long-term risk phenotypes, underscoring substantial variability in timing of intervention, penetrance, and level of evidence supporting early benefit. Genomic NBS is transforming rare disease management, including endocrine diseases, by enabling earlier diagnosis, precision care, and coordinated professional and family-based interventions, marking a paradigm shift in population health.
Effect of orlistat and anti-androgen oral contraceptives on pregnancy outcomes in overweight or obese PCOS patients during comprehensive management.
To investigate the impact of comprehensive preconception management using combined oral contraceptives (COCs) and orlistat on live birth rates and pregnancy outcomes in overweight or obese women with polycystic ovary syndrome (PCOS), aimed at optimizing preconception management strategies. This prospective cohort study enrolled 235 overweight or obese PCOS women aged 20-40 years. Participants were categorized into three preconception management groups: a DRSP/EE monotherapy group (n = 37), a DRSP/EE + orlistat combination therapy group (n = 71), and a non-medication control group (n = 127). All groups received individualized comprehensive management. The primary outcomes were live birth rate and incidence of pregnancy complications, including gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy (HDP). Secondary outcomes encompassed adverse pregnancy outcomes (APO), cesarean section rate, and neonatal complications. The incidence of GDM was significantly lower in the combination therapy group (31.9%) compared to the control group (56.6%) (P < 0.01). The DRSP/EE monotherapy group (33.3%) showed a decreasing trend, but statistical significance was not maintained after adjustment for multiple comparisons. While no statistically significant differences were observed in HDP, live birth rates, or APO among the groups (P > 0.05), the combination group exhibited the most favorable trends, achieving the highest live birth rate (97.2%) and the lowest APO rate (21.1%) compared to the monotherapy and control groups. Similarly, neonatal outcomes (preterm delivery, low birth weight, macrosomia) were comparable across groups, though the combination group showed numerically lower rates of preterm delivery and macrosomia. Multivariable logistic regression identified body mass index (BMI), fasting plasma glucose (FPG), fasting insulin (FINS), and total testosterone (TT) as independent risk factors for GDM, whereas both medication regimens were identified as significant protective factors. This study demonstrates that preconception combination therapy with DRSP/EE and orlistat significantly reduces the risk of GDM in overweight or obese women with PCOS. DRSP/EE monotherapy also exhibits a potential protective trend, although the effect is less robust compared to the combination regimen. While differences in HDP and other pregnancy outcomes did not reach statistical significance, the combination therapy group yielded the most favorable clinical profile, achieving the numerically highest live birth rate and the lowest incidence of adverse pregnancy outcomes. Comprehensive management targeting BMI and metabolic indicators is crucial for improving pregnancy prognosis in this population.
Publicações recentes
Adherence to American Diabetes Association and Centers for Medicare & Medicaid Services Guidelines for Diabetes Management in Puerto Rico's Medicaid Population.
Effect of orlistat and anti-androgen oral contraceptives on pregnancy outcomes in overweight or obese PCOS patients during comprehensive management.
Maternal, Fetal, and Infant Outcomes Associated With Bariatric Surgery: A Matched Cohort Study.
USP24 inhibits autophagy in diabetic myocardial disorder by regulating TRAF6-mediated ubiquitination of Beclin-1.
Risk factors for primary cesarean delivery in women with gestational diabetes mellitus: a predictive model for clinical risk assessment.
📚 EuropePMCmostrando 198
Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
Intensive care medicineExecutive Summary: Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care SocietiesGenomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
Annales d'endocrinologieEffect of orlistat and anti-androgen oral contraceptives on pregnancy outcomes in overweight or obese PCOS patients during comprehensive management.
Archives of gynecology and obstetricsMaternal, Fetal, and Infant Outcomes Associated With Bariatric Surgery: A Matched Cohort Study.
Annals of surgeryBreastfeeding in Infancy and Adult Health: A Narrative Review.
Children (Basel, Switzerland)Impact of β-Blockers on the Risk of Low-Birth-Weight Infants in Women with Long QT Syndrome or Marfan Syndrome: A Single-Center Retrospective Study from 2008 to 2022 in a Tertiary Care Center.
Paediatric drugsOxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory.
Orphanet journal of rare diseasesThe Impact of Offspring Sex on Pregnancy and Neonatal Outcomes in Individuals with Pregestational Diabetes.
American journal of perinatologyPrevalence, risk factors and mortality associated with colonic atresia: a population-based case-control study.
Pediatric surgery internationalParental birth weight as a predictor of neonatal and childhood outcomes in children: a systematic review and meta-analysis.
Journal of developmental origins of health and diseaseCondition-Specific Growth Charts for Children With Alagille Syndrome.
JAMA network openHuman fetal circulating factors from pregnancies complicated by obesity upregulate genes associated with pathological hypertrophy in neonatal rat cardiomyocytes.
American journal of physiology. Heart and circulatory physiologyAntenatal Corticosteroids and Neonatal Outcomes Among Patients With Twin Gestations at Risk for Late Preterm Birth.
Obstetrics and gynecologyAssociations between gestational diabetes mellitus and survival without bronchopulmonary dysplasia in very preterm infants: a multicentre cohort study.
BMJ openSkin Care Supports Overall Well-Being.
Clinical, cosmetic and investigational dermatologyEarly preterm antenatal corticosteroids and neonatal outcomes for twin pregnancies: a propensity score-weighted cohort study.
BMC pregnancy and childbirthSecond generation effects of antenatal corticosteroid exposure: 50-year follow-up of the Auckland Steroid Trial.
Journal of developmental origins of health and diseaseIncidence and predictors of mortality among low birth weight neonates in Africa: a systematic review and meta-analysis.
Frontiers in pediatricsA retrospective study on the prevalence, management, and outcomes of congenital heart diseases in children at Edward Francis small teaching hospital, banjul, the Gambia.
BMC cardiovascular disordersLetrozole ovulation regimen for frozen-thawed embryo transfer in women with polycystic ovary syndrome: a muti-centre randomised controlled trial.
Reproductive biology and endocrinology : RB&EImpact of antenatal corticosteroid therapy on neonatal outcomes in twin pregnancies.
Journal of translational medicineImpact of Maternal Hyperglycemic and Hypertensive Disorders on Perinatal Outcomes Across the COVID-19 Pandemic.
Women's health reports (New Rochelle, N.Y.)Global, regional and national trends in the burden of persistent pulmonary hypertension of the newborn and essentials of its management from 1993 to 2023: a scoping review.
Frontiers in pediatricsInvasive Neurostimulation During Pregnancy for Treatment of Epilepsy and Tourette Syndrome: Maternal and Fetal Outcomes.
Neurology. Clinical practiceLate Preterm Antenatal Corticosteroids in Pregestational and Gestational Diabetic Pregnancies.
American journal of perinatologyDevelopment of a Risk Score for the Prediction and Management of Pre-Eclampsia in Low-Resource Settings.
Journal of clinical medicineVirtual vs In-person Care in Gestational Diabetes Management: A Retrospective Cohort Analysis.
Canadian journal of diabetesEndocrinopathies in children with inborn errors of immunity: a single-center experience.
Journal of pediatric endocrinology & metabolism : JPEMHeritable hyperparathyroidism: Genetic insights and clinical implications.
Best practice & research. Clinical endocrinology & metabolismAssociation between isolated abnormal 1-hour glucose challenge test and adverse pregnancy outcomes: a retrospective review from an urban tertiary care center in the United States.
BMC pregnancy and childbirthMetformin versus insulin in glycemic control in pregnancy (MevIP): a randomized clinical trial protocol.
TrialsSystematic review of interventions in early pregnancy among pregnant individuals at risk for hyperglycemia.
American journal of obstetrics & gynecology MFMComparison of two aspirin doses for the prophylaxis of pre-eclampsia in twin pregnancy: a multicenter retrospective study with propensity score matching.
American journal of obstetrics and gynecologyGlobal, regional, and national progress towards the 2030 global nutrition targets and forecasts to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
Lancet (London, England)Relationship between Intrapartum Continuous Glucose Monitoring Values and Neonatal Hypoglycemia in Individuals with Diabetes.
American journal of perinatologyInotropes for the prevention of low cardiac output syndrome and mortality for paediatric patients undergoing surgery for congenital heart disease: a network meta-analysis.
The Cochrane database of systematic reviewsEpidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999-2019.
Birth defects researchUnexpected delivery: cryptic pregnancy.
BMJ case reportsAntenatal corticosteroids for late small-for-gestational-age fetuses.
Journal of perinatal medicineBetamethasone Exposure and Neonatal Respiratory Morbidity Among Late Preterm Births by Planned Mode of Delivery and Gestational Age.
Obstetrics and gynecologyLack of adequate counseling about pregnancy complications in patients with polycystic ovary syndrome: a cross-sectional survey study.
F&S reportsRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergologie selectGnRH agonist pretreatment for frozen embryo transfer among women with polycystic ovary syndrome: a narrow systematic review and meta-analysis of randomized controlled trials.
Reproductive biology and endocrinology : RB&EComparison of Ultrasound Findings Associated with Adverse Fetal, Obstetric, and Neonatal Outcomes in Pregestational Type 1 And Type 2 Diabetes: A Systematic Review.
American journal of perinatologyEffects of Metabolic Syndrome on Pregnancy Outcomes in Women Without Polycystic Ovary Syndrome.
Journal of the Endocrine SocietyOptimal Timing of Delivery for Pregnant Individuals With Mild Chronic Hypertension.
Obstetrics and gynecologyInositols and female reproduction disorders: a consensus statement from the working group of the Club of the Italian Society of Endocrinology (SIE)-Women's Endocrinology.
Journal of endocrinological investigation[Expert consensus on the diagnosis and treatment of obstructive sleep apnea in women].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesGestational Weight Gain and Neonatal Biometry during the COVID-19 Pandemic: A Multicenter Observational Cohort.
American journal of perinatologyThe impact of prepregnancy body mass index on pregnancy and neonatal outcomes.
Journal of osteopathic medicineThe effect of bariatric surgery on polycystic ovary syndrome patients' obstetric and neonatal outcomes: a population-based study.
Journal of assisted reproduction and geneticsMaternal Diabetes Mellitus and Neonatal Outcomes in Bisha: A Retrospective Cohort Study.
Medical sciences (Basel, Switzerland)Obstetric Complications and Birth Outcomes After Antenatal Coronavirus Disease 2019 (COVID-19) Vaccination.
Obstetrics and gynecologyCardiovascular outcomes 50 years after antenatal exposure to betamethasone: Follow-up of a randomised double-blind, placebo-controlled trial.
PLoS medicineAutoimmune diseases and adverse pregnancy outcomes: an umbrella review.
BMC medicineImproved neonatal outcomes in pregnancies with coexisting gestational diabetes and preeclampsia in normal birthweight neonates- insights from a retrospective cohort study.
PlacentaAntenatal steroids and neonatal outcomes in late preterm births with pregestational diabetes.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsMaternal and perinatal risks for monozygotic twins conceived following frozen-thawed embryo transfer: a retrospective cohort study.
Journal of ovarian researchCongenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 Variants.
International journal of molecular sciencesMaternal and fetal/neonatal outcomes in pregnancy, delivery and postpartum following bariatric surgery and comparison with pregnant women with obesity: a study protocol for a prospective cohort.
Reproductive healthSIRT1 alleviates insulin resistance and respiratory distress in late preterm rats by activating QKI5-mediated PPARγ/PI3K/AKT pathway.
Cell cycle (Georgetown, Tex.)Global Burden of Cardiovascular Diseases and Risks, 1990-2022.
Journal of the American College of CardiologyGenotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study.
Archives of disease in childhoodPredicting adverse perinatal outcomes among gestational diabetes complicated pregnancies using neural network algorithm.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansRisk of birth defects in pregnant persons with sleep-disordered breathing during pregnancy.
Birth defects researchRole of Cerebroplacental Ratio in Predicting the Outcome of Pregnancies Complicated by Diabetes.
Fetal diagnosis and therapyNeonatal and Maternal Outcomes of Pregnancies following Stillbirth.
American journal of perinatologyTwo Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis.
Medicina (Kaunas, Lithuania)Maternal and neonatal outcomes in patients with hepatitis C and intrahepatic cholestasis of pregnancy: The sum of the parts.
PloS oneThe effect of time interval between antenatal corticosteroid administration and delivery on outcomes in late preterm neonates born to mothers with diabetes: a retrospective cohort study.
Frontiers in pediatricsMaternal First-Trimester Alpha-Fetoprotein and Placenta-Mediated Pregnancy Complications.
Hypertension (Dallas, Tex. : 1979)Neonatal outcomes and rationale for timing of birth in perinatal diabetes: a retrospective cohort study.
American journal of obstetrics & gynecology MFMA Novel Variant in the TP53 Gene Causing Li-Fraumeni Syndrome.
Children (Basel, Switzerland)Mediterranean diet and female reproductive health over lifespan: a systematic review and meta-analysis.
American journal of obstetrics and gynecologyElevated antimüllerian hormone levels are not associated with preterm delivery after in vitro fertilization or ovulation induction.
Fertility and sterilityEffects of oral glibenclamide versus subcutaneous insulin on perinatal outcome of patients with gestational diabetes mellitus: A randomized clinical trial.
Obstetric medicinePosition paper of the Italian Association of Medical Diabetologists (AMD), Italian Society of Diabetology (SID), and the Italian Study Group of Diabetes in pregnancy: Metformin use in pregnancy.
Acta diabetologicaAssociation between Sleep Disordered Breathing and Neonatal Outcomes in Nulliparous Individuals.
American journal of perinatologyEvaluation of pregnancy and neonatal outcomes according to the phenotypic types of polycystic ovary syndrome: A prospective study.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsClinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome.
Journal of pediatric geneticsOutcomes among Neonates after a Diagnosis of Persistent or Transient Fetal Growth Restriction Delivered at Term.
American journal of perinatologyAssociation between foetal sex and adverse neonatal outcomes in women with gestational diabetes.
Archives of gynecology and obstetricsFull-term induction of labor vs expectant management and cesarean delivery in women with obesity: systematic review and meta-analysis.
American journal of obstetrics & gynecology MFMRemote patient monitoring for management of diabetes mellitus in pregnancy is associated with improved maternal and neonatal outcomes.
American journal of obstetrics and gynecologyWolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.
International journal of molecular sciencesRapid Progression of Focal Segmental Glomerulosclerosis in Patients with High-Risk APOL1 Genotypes.
Clinical journal of the American Society of Nephrology : CJASNPregnancy outcomes in patients receiving assisted reproductive therapy with systemic lupus erythematosus: a multi-center retrospective study.
Arthritis research & therapyShort-term neonatal outcomes of pregnancies complicated by maternal obesity.
American journal of obstetrics & gynecology MFMAcylcarnitines in Ophthalmology: Promising Emerging Biomarkers.
International journal of molecular sciencesImpact of Maternal-Fetal Environment on Outcomes Following the Hybrid Procedure in the Single Ventricle Population.
Pediatric cardiologyClinical characteristics and outcomes in neonates with perinatal acute respiratory distress syndrome in China: A national, multicentre, cross-sectional study.
EClinicalMedicineImpact of restricting early-term deliveries on adverse neonatal outcomes: a statewide analysis.
American journal of obstetrics & gynecology MFMLifestyle Interventions to Improve Pregnancy Outcomes: a Systematic Review and Specified Meta-Analyses.
Geburtshilfe und FrauenheilkundeEpidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchInternational Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
NeurologyIs the Gestational Weight Gain Recommended by the National Academy of Medicine Guidelines Suitable for Chinese Twin-Pregnant Women with Gestational Diabetes Mellitus?
American journal of perinatologyIs early-follicular long-acting GnRH agonist protocol an alternative for patients with polycystic ovary syndrome undergoing in vitro fertilization?
Reproductive biology and endocrinology : RB&EAssociation between clinical variations and copy number variations in cases with Turner syndrome.
Journal of pediatric endocrinology & metabolism : JPEMNICU Admission for Term Neonates in a Large Single-Center Population: A Comprehensive Assessment of Risk Factors Using a Tandem Analysis Approach.
Journal of clinical medicineTime in Range and Pregnancy Outcomes in People with Diabetes Using Continuous Glucose Monitoring.
American journal of perinatologyClinical impact of less invasive surfactant administration using video laryngoscopy in extremely preterm infants.
Pediatric researchTreatment and prevention of pathological mitochondrial dysfunction in retinal degeneration and in photoreceptor injury.
Biochemical pharmacologyThe Role of Kisspeptin in the Pathogenesis of Pregnancy Complications: A Narrative Review.
International journal of molecular sciencesThe association between chronic liver diseases and preeclampsia.
BMC pregnancy and childbirthMaternal Obesity-Associated Neonatal Morbidities in Early Newborn Period.
Frontiers in pediatricsGestational diabetes mellitus and adverse pregnancy outcomes: systematic review and meta-analysis.
BMJ (Clinical research ed.)The role of Australian clinical quality registries in pregnancy care: A scoping review.
The Australian & New Zealand journal of obstetrics & gynaecologyIs the lack of prior exposure to sperm antigens associated with worse neonatal and maternal outcomes? A 10-year single-center experience comparing ICSI-TESE pregnancies to ICSI pregnancies.
AndrologyTime Interval From Early-Term Antenatal Corticosteroids Administration to Delivery and the Impact on Neonatal Outcomes.
Frontiers in pediatricsMaternal and neonatal outcomes of pregnancies with COVID-19 after medically assisted reproduction: results from the prospective COVID-19-Related Obstetrical and Neonatal Outcome Study.
American journal of obstetrics and gynecologyProtocol of the Fit-For-Fertility study: a multicentre randomised controlled trial assessing a lifestyle programme targeting women with obesity and infertility.
BMJ openBrain charts for the human lifespan.
NatureSystematic review update and meta-analysis of randomized and non-randomized controlled trials of ovarian stimulation versus artificial cycle for endometrial preparation prior to frozen embryo transfer in women with polycystic ovary syndrome.
Reproductive biology and endocrinology : RB&EAssociation of Glyburide and Subcutaneous Insulin With Perinatal Complications Among Women With Gestational Diabetes.
JAMA network openAssociation of change in haemoglobin A1c with adverse perinatal outcomes in women with pregestational diabetes.
Diabetic medicine : a journal of the British Diabetic AssociationThe Impact of the COVID-19 Pandemic on Postpartum Readmission Rates at a Single Tertiary Care Center in New York City.
American journal of perinatologyDifferent pregnancy outcomes according to the polycystic ovary syndrome diagnostic criteria: a systematic review and meta-analysis of 79 studies.
Fertility and sterilityIntensive Medical Nutrition Therapy Alone or with Added Metformin to Prevent Gestational Diabetes Mellitus among High-Risk Mexican Women: A Randomized Clinical Trial.
NutrientsElective freezing of embryos versus fresh embryo transfer in IVF: a multicentre randomized controlled trial in the UK (E-Freeze).
Human reproduction (Oxford, England)Metformin in pregnancy and risk of adverse long-term outcomes: a register-based cohort study.
BMJ open diabetes research & carePolycystic ovary syndrome and postpartum depression: A systematic review and meta-analysis of observational studies.
Journal of affective disordersClinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years' experience from a resource limited setting.
Journal of pediatric endocrinology & metabolism : JPEMGestational metformin administration in women with polycystic ovary syndrome: A systematic review and meta-analysis of randomized control studies.
The journal of obstetrics and gynaecology researchEffects of delayed cord clamping on neonatal hyperbilirubinemia in pre-gestational diabetes at term.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansA molecular explanation of cardiovascular protection through abnormal cannabidiol: Involving the dysfunctional β-adrenergic and ATP-sensitive K+ channel activity in cardiovascular compromised preterm infants.
Journal of biochemical and molecular toxicologyA Narrative Review of Nutritional Malpractices, Motivational Drivers, and Consequences in Pregnant Women: Evidence from Recent Literature and Program Implications in Ethiopia.
TheScientificWorldJournalMaternal outcomes and risk factors for COVID-19 severity among pregnant women.
Scientific reportsClinical and biochemical signs of polycystic ovary syndrome in young women born preterm.
European journal of endocrinologyGenetic causes of neonatal and infantile hypercalcaemia.
Pediatric nephrology (Berlin, Germany)Are newborn outcomes different for term babies who were exposed to antenatal corticosteroids?
American journal of obstetrics and gynecologyOvarian hyperstimulation syndrome and adverse pregnancy outcome.
Minerva obstetrics and gynecologyMetformin Exposure and Risk of Hypertensive Disorders of Pregnancy in Patients with Type 2 Diabetes.
American journal of perinatologyMolecular Mechanisms of Maternal Diabetes Effects on Fetal and Neonatal Surfactant.
Children (Basel, Switzerland)Detemir vs neutral protamine Hagedorn insulin for diabetes mellitus in pregnancy: a comparative effectiveness, randomized controlled trial.
American journal of obstetrics and gynecologyMolecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
The Journal of allergy and clinical immunologyDiabetic ketoacidosis drives COVID-19 related hospitalizations in children with type 1 diabetes.
Journal of diabetesThe Society for Obstetric Anesthesia and Perinatology Coronavirus Disease 2019 Registry: An Analysis of Outcomes Among Pregnant Women Delivering During the Initial Severe Acute Respiratory Syndrome Coronavirus-2 Outbreak in the United States.
Anesthesia and analgesiaProtocol for a randomized controlled trial of pre-pregnancy lifestyle intervention to reduce recurrence of gestational diabetes: Gestational Diabetes Prevention/Prevención de la Diabetes Gestacional.
TrialsUltrasound and Doppler findings in pregnant women with SARS-CoV-2 infection.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyMetabolic syndrome cannot mask the changes of faecal microbiota compositions caused by primary hepatocellular carcinoma.
Letters in applied microbiologyThe impact of COVID-19 on pregnancy outcomes: a systematic review and meta-analysis.
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienneAssociation between living with children and outcomes from covid-19: OpenSAFELY cohort study of 12 million adults in England.
BMJ (Clinical research ed.)Maternal and fetal effects of COVID-19 virus on a complicated triplet pregnancy: a case report.
Journal of medical case reportsPrimary hyperparathyroidism and Zollinger Ellison syndrome during pregnancy: a case report.
Endocrinology, diabetes & metabolism case reportsPatients with IVF complicated by moderate-to-critical OHSS experience increased thrombosis, GDM and neonatal NICU admission but slightly shorter gestation compared with matched IVF counterparts: A retrospective Chinese cohort study.
Reproductive biology and endocrinology : RB&ENeutrophil-to-Lymphocyte Ratio and Platelet-to-Lymphocyte Ratio in Twins Compared with Singletons.
Southern medical journalDo in vitro fertilization, intrauterine insemination or female infertility impact the risk of congenital anomalies in singletons? A longitudinal national French study.
Human reproduction (Oxford, England)Maternal and neonatal outcome and children's development after medically assisted reproduction with in-vitro matured oocytes-a systematic review and meta-analysis.
Human reproduction updateExamining the relationship between food environment and gestational diabetes.
American journal of obstetrics & gynecology MFMPregnant women with SARS-CoV-2 infection are at higher risk of death and pneumonia: propensity score matched analysis of a nationwide prospective cohort (COV19Mx).
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyThe timing of initiation of pharmacotherapy for women with gestational diabetes mellitus.
BMC pregnancy and childbirthPregnant women with severe or critical coronavirus disease 2019 have increased composite morbidity compared with nonpregnant matched controls.
American journal of obstetrics and gynecologyPregnancy Outcomes Among Women With and Without Severe Acute Respiratory Syndrome Coronavirus 2 Infection.
JAMA network openChronic hypertension in pregnancy: are outcomes the same in patients on antihypertensives?
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansEffects of Asherman Syndrome on Maternal and Neonatal Morbidity with Evaluation by Conception Method.
Journal of minimally invasive gynecologyAssociation between Respiratory Morbidity and Labor in Pregnancies with Gestational Diabetes Mellitus.
American journal of perinatologyAssociation between IVF/ICSI treatment and preterm birth and major perinatal outcomes among dichorionic-diamnionic twin pregnancies: A seven-year retrospective cohort study.
Acta obstetricia et gynecologica ScandinavicaGitelman syndrome in pregnancy: a case series.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansThe effect of spinal hypotension and anesthesia-to-delivery time interval on neonatal outcomes in planned cesarean delivery.
American journal of obstetrics and gynecologyImpact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders.
Orphanet journal of rare diseasesDoes antenatal steroids treatment in twin pregnancies prior to late preterm birth reduce neonatal morbidity? Evidence from a retrospective cohort study.
Archives of gynecology and obstetricsAntenatal Corticosteroids and Preterm Neonatal Morbidity and Mortality among Women with and without Diabetes in Pregnancy.
American journal of perinatologyAssociation of Obstetric and Neonatal Outcomes With Deviation From Guidelines for Gestational Carriers.
Obstetrics and gynecologyMultimorbidity Patterns in the General Population: Results from the EpiChron Cohort Study.
International journal of environmental research and public healthA snapshot of the Covid-19 pandemic among pregnant women in France.
Journal of gynecology obstetrics and human reproductionIncidence, Risk Factors, and Outcomes of Neonatal Renal Vein Thrombosis in Ontario: Population-Based Cohort Study.
Kidney360Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Human reproduction (Oxford, England)Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Reviews in endocrine & metabolic disordersAssociation of preconception paternal health on perinatal outcomes: analysis of U.S. claims data.
Fertility and sterilityWenxin Keli Regulates Mitochondrial Oxidative Stress and Homeostasis and Improves Atrial Remodeling in Diabetic Rats.
Oxidative medicine and cellular longevityGrowth and other health outcomes of 2-year-old singletons born after IVM versus controlled ovarian stimulation in mothers with polycystic ovary syndrome.
Human reproduction openCognitive function in metformin exposed children, born to mothers with PCOS - follow-up of an RCT.
BMC pediatricsComplications of Antenatal Corticosteroids in Infants Born by Early Term Scheduled Cesarean Section.
Diabetes careAdvanced Glycation End Products (AGEs) May Be a Striking Link Between Modern Diet and Health.
BiomoleculesHigh-Risk Pregnancies and Their Impact on Neonatal Primary Hemostasis.
Seminars in thrombosis and hemostasisA Retrospective Cohort Study of Safety Outcomes in New Zealand Infants Exposed to Tdap Vaccine in Utero.
VaccinesAlternative pathway androgen biosynthesis and human fetal female virilization.
Proceedings of the National Academy of Sciences of the United States of AmericaEffects of oligosaccharide-sialic acid (OS) compound on maternal-newborn gut microbiome, glucose metabolism and systematic immunity in pregnancy: protocol for a randomised controlled study.
BMJ openCongenital Heart Disease and Thyroid Dysfunction: Combination, Association, and Implication.
World journal for pediatric & congenital heart surgeryBasal Insulin Analogs versus Neutral Protamine Hagedorn for Type 2 Diabetics.
American journal of perinatologyNeonatal outcomes of very low birthweight infants born to mothers with hyperglycaemia in pregnancy: a retrospective cohort study in Japan.
BMJ paediatrics openAssociation of Labor With Neonatal Respiratory Outcomes at 36-40 Weeks of Gestation.
Obstetrics and gynecologyCongenital nasal pyriform aperture stenosis: Analysis of twenty cases at a single institution.
International journal of pediatric otorhinolaryngologyThe transition from latent to active labor and adverse obstetrical outcomes.
American journal of obstetrics and gynecologyHypertensive disorders of pregnancy in twin gestations complicated by gestational diabetes.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansManagement of primary hyperparathyroidism in pregnancy: a case series.
Endocrinology, diabetes & metabolism case reportsEIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report.
BMC pediatricsUse of metformin to treat pregnant women with polycystic ovary syndrome (PregMet2): a randomised, double-blind, placebo-controlled trial.
The lancet. Diabetes & endocrinologyBirth Size and Gestational Age Specific Outcomes of Inhaled Nitric Oxide Therapy in Preterm Neonates with Clinically Diagnosed Pulmonary Hypertension.
American journal of perinatologyIdentification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Hepatology (Baltimore, Md.)Association of Gestational Diabetes Mellitus With Neonatal Respiratory Morbidity.
Obstetrics and gynecologyContributing factors of mortality in Prader-Willi syndrome.
American journal of medical genetics. Part AALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
Journal of molecular medicine (Berlin, Germany)Maternal glycemic index and glycemic load in pregnancy and offspring metabolic health in childhood and adolescence-a cohort study of 68,471 mother-offspring dyads from the Danish National Birth Cohort.
European journal of clinical nutritionEffect of high dose folic acid supplementation in pregnancy on pre-eclampsia (FACT): double blind, phase III, randomised controlled, international, multicentre trial.
BMJ (Clinical research ed.)Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).
The Journal of clinical endocrinology and metabolismMetformin for women who are overweight or obese during pregnancy for improving maternal and infant outcomes.
The Cochrane database of systematic reviewsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de microcefalia primária – epilepsia – diabetes neonatal permanente.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de microcefalia primária – epilepsia – diabetes neonatal permanente
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Oxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory.
- Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.
- Surviving Sepsis Campaign International Guidelines for the Management of Sepsis and Septic Shock in Children 2026.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies· 2026· PMID 41869844mais citado
- Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.
- Effect of orlistat and anti-androgen oral contraceptives on pregnancy outcomes in overweight or obese PCOS patients during comprehensive management.
- Adherence to American Diabetes Association and Centers for Medicare & Medicaid Services Guidelines for Diabetes Management in Puerto Rico's Medicaid Population.
- Maternal, Fetal, and Infant Outcomes Associated With Bariatric Surgery: A Matched Cohort Study.
- USP24 inhibits autophagy in diabetic myocardial disorder by regulating TRAF6-mediated ubiquitination of Beclin-1.
- Risk factors for primary cesarean delivery in women with gestational diabetes mellitus: a predictive model for clinical risk assessment.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:306558(Orphanet)
- OMIM OMIM:614231(OMIM)
- MONDO:0031481(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:18438(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55784269(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
