A Síndrome de Turner é uma alteração que ocorre nos cromossomos e está relacionada à ausência total ou parcial de um cromossomo X.
Introdução
O que você precisa saber de cara
A Síndrome de Turner é uma alteração que ocorre nos cromossomos e está relacionada à ausência total ou parcial de um cromossomo X.
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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
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 115 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
Condição cromossômica — cromossomo X
Envolve alteração no cromossomo X. O fenótipo resulta da alteração na dose de múltiplos genes simultaneamente — não há gene causal único. Diagnóstico por cariótipo, CMA ou FISH.
Aneuploidias de X têm fenótipo mais leve devido à inativação de X (lyonização). SHOX (Xp22.33 pseudoautossômica) explica baixa estatura em Turner.
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 Turner
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Turner
Centros para Síndrome Turner
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.354
A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).
Sex-chromosome dosage and pubertal hormone exposure exert powerful but temporally distinct influences on human brain development, yet their interaction has rarely been formalized within a unified mechanistic framework. Variation in X-chromosome dosage provides a unique opportunity to dissociate early organizational constraints from later modulatory processes shaping cognitive circuits. Here, we synthesize genetic, neuroimaging, neuroendocrine, and neuropsychological evidence to propose a hierarchical gene-hormone-circuit framework of cognitive development. Using Turner syndrome as a biologically constrained model system, we argue that haploinsufficiency of X-linked genes escaping inactivation imposes early, front-loaded constraints on cortical patterning and parietal-frontoparietal connectivity, establishing a neural scaffold that persists across development. Pubertal estrogen signaling subsequently acts as a modulatory influence, refining prefrontal and fronto-limbic circuits that retain plasticity into adolescence, but operating within the limits imposed by earlier gene-dosage-defined architecture. Importantly, this framework departs from prior models by explicitly distinguishing organizational constraints from modulatory influences across developmental timescales. The interaction of these processes yields a domain-specific neurobehavioral organization characterized by persistent visuospatial and executive vulnerabilities alongside variable socio-emotional outcomes. By explicitly integrating sex-chromosome dosage effects with hormone-dependent circuit tuning, this framework advances a generalizable model of hierarchical constraint and modulation in brain development, offering mechanistic insight into sex-linked variation in cognitive and affective circuit maturation and generating testable predictions for future longitudinal neurogenetic and neuroimaging studies.
Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.
Otto Ullrich, a German pediatrician, first described the complete clinical phenotype of Turner syndrome in an 8-year-old girl in 1930. In 1938, Henri Turner, an Oklahoma physician, independently reported similar findings. The disorder subsequently became known as Turner syndrome and is also referred to as Ullrich–Turner syndrome. Turner syndrome is a sex chromosome disorder affecting individuals with a female phenotype who have one intact X chromosome and a partial or complete absence of the second sex chromosome. The chromosomal basis (45,X) was first identified by the British researcher Charles E. Jones in 1959, and Turner syndrome is the most common sex chromosome abnormality occurring in girls and women. Traditional diagnosis relies on identifying specific phenotypic features, such as a characteristic facial appearance, neck webbing, and peripheral lymphedema (see Image: Girl with Turner Syndrome). More recently, the recognized clinical manifestations of Turner syndrome have expanded to include, either alone or in combination, short stature, premature ovarian insufficiency (including delayed puberty), early sensorineural hearing loss, congenital cardiovascular, skeletal, and renal anomalies, a distinctive neurodevelopmental profile, and a higher prevalence of autoimmune conditions, such as autoimmune thyroiditis and celiac disease.
Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.
A 47-year-old woman with Turner's syndrome was admitted to the emergency room with anemic syndrome and melena. She has a history of hypothyroidism, premature ovarian insufficiency and chronic iron deficiency. She reported previous overt gastrointestinal (GI) bleeding attributed to duodenal vascular lesions. Endoscopic treatment and blood transfusion were performed. She received estroprogestative therapy, thyroid hormone substitution and oral iron replacement therapy on the long run. Hemoglobin rate was 6.1 g/dL. Upper GI endoscopy was normal, colonoscopy showed blood clots in the ileum and in the right colon. Small bowel capsule endoscopy identified active jejunal bleeding. Both capsule endoscopy and deep enteroscopy identified multiple, tiny, looped telangiectasias in the duodenum and jejunum (Fig 1 and Fig 2) which were ablated using argon plasma coagulation. GI bleeding and iron deficiency recurred several times during the three years follow-up. Long-acting release octreotide treatment was initiated and progressively increased due to recurrent GI bleeding. Parenteral iron supplementation were performed. Further endoscopic investigations identified once again non hemorrhagic typical looped small bowel telangiectasias. Eradication treatment consisted in argon plasma coagulation. Case reports have described hemorrhagic GI vascular abnormalities responsible for longstanding iron deficiency anemia and overt GI bleeding in women with Turner's syndrome.(1) These vascular lesions were predominantly (72%) located in the small bowel where they can be diagnosed with capsule or enteroscopy. Authors usually use the terms telangiectasia, prominent submucosal vascular network, and/or phlebectasia to describe these lesions. Reports describing abnormalities observed during laparoscopic evaluation mentioned segmentally distended veins on the serosal surface of the small and large bowel (1,2,3). Exceptional reports of perendoscopic biopsies mentioned superficial telangiectasia of the mucosa, and an enterectomy pathological analysis showed medium-sized ectasic, congestive vessels in the mucosa and serosa.(3) The small bowel microvasculature lesions reported in association with Turner's syndrome thus differ from angiodysplasias. Angiodysplasias are typically described as flat lesions, consisting of tortuous and clustered capillary dilatations, within the mucosal layer (4) either seen in a sporadic manner or as observed in Osler-Weber-Rendu syndrome (4,6). Still, because loop telangiectasias in Turner's syndrome are tiny, superficial vascular lesions, we attempted a similar treatment to that of angiodysplasia (5), with first-line (argon plasma coagulation) and second-line (long-acting release octreotide), resulting in significant biological improvement in our patient. At 6 months of follow-up after octreotide optimization, no recurrence occurred, hemoglobin rate was 14.1 g/dL with ferritinemia at 16 ng/mL.
Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.
Brachial plexus neuritis, or Parsonage–Turner syndrome, is an uncommon neuropathy marked by acute pain followed by weakness, often triggered by infection, vaccination, trauma, or metabolic stress but the exact cause of this disease remained unknown. Semaglutide is widely used for the treatment of type 2 diabetes and obesity. With its increasing use, there have been reports suggesting a possible association with neuropathies. Currently, there is no information suggesting a possible association between the use of semaglutide and brachial plexus neuritis. A 39-year-old man with a prior episode of unilateral brachial neuritis developed recurrent bilateral upper limb weakness after an eight-month, 70-pound semaglutide-associated weight loss. He presented with bilateral radial sensory loss, finger extensor paralysis, right triceps weakness and decreased grip strength on the left side. Corticosteroids provided pain relief, but motor and sensory deficits persisted despite physiotherapy. This case highlights a temporal association between rapid pharmacologic weight loss and recurrent idiopathic brachial plexus neuritis, emphasizing the importance of gradual, nutritionally supported weight reduction and vigilance for neuromuscular complications during GLP-1 receptor agonist therapy.
Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records.
The effect of Mendelian disorders on pregnancy and neonatal outcomes is poorly understood because of their rarity and the challenge of compiling complete prenatal and postnatal records. Using electronic health records from a single academic center, we developed a retrospective cohort of maternal-infant dyads. Cases were mothers with molecularly confirmed Mendelian disorders paired with live-born infants; controls had no documented genetic disease. Outcomes were evaluated overall, by organ system, and by individual disorder. The cohort included 58,912 dyads, 241 with genetic diagnoses and 58,671 controls. Although overall outcomes were generally favorable, mothers with genetic disorders had higher rates of cesarean delivery and neonatal intensive care unit admission, earlier gestational age, and lower Apgar scores. Neonatal risks were greatest among neurological and cardiovascular disorders. Known associations were replicated, including increased neonatal intensive care unit admission in 22q11.2 deletion syndrome, cesarean delivery in Turner syndrome, and gestational diabetes in cystic fibrosis. We also provided descriptive electronic-health-record-based case reports and case series for 35 disorders previously lacking published pregnancy outcome data. This study identifies elevated perinatal risks in specific Mendelian disease groups and demonstrates how electronic-health-record-linked data can support prenatal counseling, risk stratification, and individualized care for individuals with genetic disorders.
Publicações recentes
Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.
🥇 Revisão sistemáticaSuccessful Kidney Transplantation in Turner Syndrome: A Case for Feasibility and Favorable Outcomes.
Turner syndrome as a state of increased autoimmune susceptibility: evidence from rheumatic diseases.
Physical Therapy Management of Scapular Dyskinesis Due to Spinal Accessory Nerve Palsy Secondary to Neuralgic Amyotrophy: A Case Report.
📖 RevisãoKnuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity.
🥇 Ensaio randomizado📚 EuropePMC3.552 artigos no totalmostrando 195
Adipose tissue distribution and metabolic profile of young individuals with turner syndrome.
Journal of the Endocrine SocietyIdentification of autosomal and sex chromosome aneuploidies using next generation sequencing.
Bioinformatics (Oxford, England)Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.
Taiwanese journal of obstetrics & gynecologyA hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).
Neuroscience and biobehavioral reviewsFertility preservation in patients with Turner syndrome: a SWOT analysis.
Reproductive biomedicine onlineReproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.
Climacteric : the journal of the International Menopause SocietyCorneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.
International ophthalmologyLate Presentation of Brachial Plexus Traction Injury After Fixation of Chronic Clavicle Nonunion Mimicking Brachial Plexitis: A Case Report and Literature Review.
CureusKaryotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients.
Journal of ovarian researchEstrogen deficiency and risk of hearing loss in pediatric Turner syndrome.
The Journal of clinical investigationPre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.
Journal of clinical neuromuscular diseasePrenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.
GenesMucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.
Journal of clinical research in pediatric endocrinologyAutomated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Frontiers in endocrinologyRelationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.
bioRxiv : the preprint server for biologyA case report on atypical chromosomal variations in Turner syndrome.
Molecular cytogeneticsDirected Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.
La Tunisie medicaleAortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.
CirculationMadelung Deformity: A Current Concepts Review.
The Journal of hand surgeryDeterminants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.
Journal of clinical medicineUltra-performance Liquid Chromatography-mass Spectrometry-based metabolic profiling of prepubertal children with Turner syndrome.
Pediatric researchHemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.
Clinics and research in hepatology and gastroenterologyGrowth patterns: Pathology vs. Normal variation.
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research SocietyNeuralgic amyotrophy: Incidence, specialty of diagnosing clinician, and delays in treatment.
Hand surgery & rehabilitationConcomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.
Case reports in geneticsThe Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.
American journal of human biology : the official journal of the Human Biology CouncilPrevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome.
CJC pediatric and congenital heart diseaseParsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.
Clinics in shoulder and elbowPhalangeal bone growth and implications in Turner syndrome.
Frontiers in endocrinologyRecurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.
BMC neurologyImproving diagnosis-specific knowledge of people with differences of sex development (DSD): Evaluation of the two-day Empower-DSD training course in Germany.
Patient education and counselingPrevalence and Changes in Genetic and Clinical Characteristics in Growth Hormone-Treated Belgian Girls with Turner Syndrome: A Study from the BELGROW Registry.
Hormone research in paediatricsFertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.
Journal of assisted reproduction and geneticsDiabetes in Turner syndrome: a distinct entity demanding specific therapeutic strategies.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyENDO-ERN expert opinion: addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe.
European journal of endocrinologyFertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.
Human reproduction (Oxford, England)The biology and clinical aspects of female infertility.
Systems biology in reproductive medicineStandardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.
The journal of sexual medicineA National Survey of Paediatric Turner Syndrome Services in the UK: Current Practice and Variability in Care.
Hormone research in paediatricsEvaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records.
Genetics in medicine : official journal of the American College of Medical GeneticsNerve injuries in cervical spine surgery via anterior approach: a comprehensive review.
Journal of spine surgery (Hong Kong)Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).
BMJ case reportsLong-Term experience with growth hormone therapy in pediatric growth disorders: an analysis of the LG growth study data.
EndocrineThe surgical treatment of Parsonage-Turner Syndrome: A PRISMA scoping review.
Neurosurgical reviewA 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.
JACC. AdvancesDXA Derived Low Bone Mass in a Cohort of Prepubertal Eastern Indian Girls With Turner Syndrome Disappeared Following Adjustment for Short Stature.
Clinical endocrinologyPredictors of spontaneous puberty - guiding of puberty induction in Turner syndrome.
Expert review of endocrinology & metabolismCardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.
Orphanet journal of rare diseasesA Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.
International journal of molecular sciencesBone health and body composition in Indian girls with Turner syndrome: analysis based on therapeutic interventions.
EndocrineGenotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.
Molecular genetics & genomic medicineX chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.
Current biology : CB[Diaphragmatic Paralysis in Parsonage-Turner syndrome: beyond brachial neuralgia].
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)Real-World Evidence of Treatment Patterns and Costs of Turner Syndrome and Noonan Syndrome in the USA.
Hormone research in paediatricsGenetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.
PloS oneHSATII RNA-dependent triplex formation in early human embryogenesis as a potential mechanism for Y chromosome loss in Turner syndrome.
Frontiers in molecular biosciencesHeadaches in a Patient With Turner Syndrome.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyConcomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.
Molecular syndromologyThe role of ultrasonography of the brachial plexus in differentiating between Parsonage-Turner syndrome and neuroborreliosis. A pictorial review.
Polish journal of radiologyA Rare Variant of Turner Syndrome Induced by the Translocation of the Short Arm of Chromosome 7 on Chromosome X: A Case Report with a Review of the Literature.
Internal medicine (Tokyo, Japan)Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.
Cardiology in reviewClinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities.
Journal of the ASEAN Federation of Endocrine SocietiesEpidural Anesthesia in a Patient With Turner Syndrome: A Case Report.
CureusTurner Syndrome and Hepatic Adenomas: A Case Report.
CureusAttention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.
Frontiers in psychologyBone Health Index (BoneXpert) and parameters of peripheral quantitative computed tomography indicate overall adequate bone health in adolescents with chronic endocrine diseases at time of transition.
PloS oneSevere Coronary Artery Disease and Nearly Atretic Aortic Coarctation in a Young Woman.
JACC. Case reportsTurner's Syndrome in Discordant Dizygotic Twins: Biological Origins and Twin Relations/Twin Research Reviews: Prevention of Premature Twin Birth; Twin Gestation with Hydatidiform Mole; Update on Feingold Syndrome Twins; Qualitative MZ Twin Difference Studies/Media: Identical Twins Turn 100 Years of Age; Twins in Famous Families; Celebration of Yorùbá Twins of Nigeria; Identical Artistic Partners; Rare Conjoined Twins Separated.
Twin research and human genetics : the official journal of the International Society for Twin StudiesSynthesizing the latest guideline-based recommendations for the management of female hypogonadism.
Archives of endocrinology and metabolismExercise capacity in girls with Turner syndrome.
European journal of pediatricsClinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.
Journal of perinatal medicinePrenatal Screening for Monosomy X in the First Trimester: A Comparison of a Thai Predictive Model and the Fetal Medicine Foundation Algorithm.
International journal of women's healthA retrospective analysis of real-world height outcomes of growth hormone treatment in Syrian children.
BMC endocrine disordersReconstruction of Thumb and Index Flexion in High Median Nerve Paralysis Using a Single Radial Wrist Extensor Tendon Transfer.
The Journal of hand surgeryA Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review.
Molecular genetics & genomic medicineLetter to Editor: "Unusual Association of 45,X/46,XY Mosaic Turner Syndrome and Müllerian Agenesis".
Nigerian journal of clinical practiceIncidence and multisystem preadolescent complications of Turner syndrome: a nationwide study.
Pediatrics and neonatologyA highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).
Clinical and experimental reproductive medicineRing Y chromosome as an unusual cause of severe oligozoospermia.
Endocrinology, diabetes & metabolism case reportsComplete Labial Fusion Causing Urinary Retention and Pyo-Hematocolpos in a Female With Turner Syndrome.
CureusThe Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome.
Orphanet journal of rare diseasesGlobal prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis.
Annals of medicineMeta-Analysis: Liver Disease Burden and Associated Factors in Turner Syndrome.
Alimentary pharmacology & therapeuticsEpidemiology of Neuralgic Amyotrophy-A Retrospective Analysis of Data From a Large German Health Insurance Company.
Muscle & nerveClinical Genetic Study of Mosaic Pseudoisodicentric X Chromosome Patient.
Clinical laboratoryGlobal Prevalence of Infertility Attributable to Sex Chromosome Abnormalities: Insights from the Global Burden of Disease Study.
International journal of women's healthLow Bone Mass is Common and Associated with Delayed Estrogen Replacement Therapy in Adult Brazilian Women with Turner Syndrome.
Journal of clinical densitometry : the official journal of the International Society for Clinical DensitometryGlobal burden and between-country inequalities in Turner syndrome from 1990 to 2021.
Acta obstetricia et gynecologica ScandinavicaParsonage-Turner Syndrome: An Unusual Cause of Postoperative Complications.
CureusGrowth hormone therapy and chromosomal mosaicism in turner syndrome: 25 years of growth outcomes in Taiwan.
Frontiers in endocrinologyDemographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review.
American journal of medical genetics. Part AUnusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant.
Dermatology reportsAnalysis of Risk Factors and Prediction Model of Chromosomal Abnormalities in Embryos from Patients with Missed Miscarriage.
International journal of women's healthParsonage-Turner Syndrome and Vocal Fold Paresis Following Soberana 2 FINLAY-FR-2 COVID-19 Vaccination: A Case Report.
Clinical case reportsQuantitative MRI of Muscle Denervation in Subacute Parsonage-Turner Syndrome: A Prospective, Longitudinal Study.
NMR in biomedicineHourglass-Like Constriction of the Brachial Plexus in an Adult Patient: A Case Report.
Neurosurgery practiceA Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome.
American journal of medical genetics. Part ATumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.
BMJ paediatrics openConsiderations when caring for a child with "male Turner Syndrome".
Journal of pediatric nursingBone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality.
American journal of medical genetics. Part C, Seminars in medical geneticsThe Process of Pubertal Induction in Girls with Turner Syndrome: From Patients' and Family's Perspective.
Hormone research in paediatricsEvaluation and Management of Recurrent Atrial Flutter in Neonates.
Journal of clinical medicineCombined Application of Multiple Technologies in Prenatal Diagnosis of a Fetus with Mosaic Isodicentric Y Chromosome.
Clinical laboratoryMinipuberty as a window into the reproductive future for girls with Turner syndrome: is the image clear?
Fertility and sterilityMosaic Turner Syndrome and Treatment-Resistant Schizophrenia.
The primary care companion for CNS disordersPregnancy in Women with Turner Syndrome: Balancing Reproductive Advances with Maternal Safety.
European journal of preventive cardiologyFertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians: A Pilot Cross-Sectional Survey Study.
Journal of pediatric and adolescent gynecologySingle-cell transcriptomics of organoids reveals transcriptional control of germline stem cell fate by an E2F1-TFAP2C-SOX17 positive-feedback loop in Turner syndrome.
Cell & bioscienceDiffuse Pulmonary Meningotheliomatosis Presenting with the Cheerios Sign Diagnosed by a Transbronchial Lung Cryobiopsy: A Case Report.
Internal medicine (Tokyo, Japan)Electroconvulsive Therapy for Refractory Auditory Hallucinations in Turner Syndrome.
The primary care companion for CNS disordersTurner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report.
Clinical case reportsAnti-Müllerian hormone as a biomarker of ovarian function and spontaneous puberty in Turner syndrome: a systematic review.
Frontiers in endocrinologyNeurological manifestations of Mpox virus during the recent global outbreak: a systematic review.
BMC infectious diseasesSerum Neurofilament Light Chain Level as an Indicator of Axonal Injury in Parsonage-Turner Syndrome (Neuralgic Amyotrophy).
Journal of the peripheral nervous system : JPNSHow Does Turner Syndrome Affect Quality of Life? A Systematic Review.
Medicina (Kaunas, Lithuania)Detection of Chromosomal Aneuploidy Using Exome Sequencing.
GenesEvaluating and predicting Klinefelter and Turner syndrome burden in China from 1990 to 2021: A study based on the global burden of disease database.
MedicineApproach to the Patient With Turner Syndrome.
The Journal of clinical endocrinology and metabolismFrom Replacement to Tailoring: Evolving Concepts in the Therapy for Short Stature.
Hormone research in paediatricsOutcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.
Journal of genetic counselingNeurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.
American journal of medical genetics. Part APatients with Neuralgic Amyotrophy Commonly Visit the Emergency Department Without Receiving a Correct Diagnosis.
Next researchTurner syndrome with pulmonary arteriovenous malformation: a case report.
Frontiers in cardiovascular medicineHigh-level mosaicism for 45,X in 45,X/46,XY at amniocentesis in a pregnancy with positive non-invasive prenatal testing for Turner syndrome, a 45,X placenta, hypospadias and unilateral cryptorchidism in the fetus without adverse fetal outcome and perinatal progressive decrease of the 45,X cell line.
Taiwanese journal of obstetrics & gynecologyRapid postnatal diagnosis of Turner syndrome by array comparative genomic hybridization using extraembryonic tissues in a pregnancy associated with hydrops fetalis, pleural effusion and cystic hygroma on second-trimester ultrasound.
Taiwanese journal of obstetrics & gynecologyHigh frequency of balance abnormalities in Turner syndrome.
Brazilian journal of otorhinolaryngologyCase report: Cervical artery dissection in a patient with Turner Syndrome.
Journal of American college health : J of ACHEdwards syndrome: Neurocognitive and linguistic profile, diagnosis, overlaps and treatment.
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego44,X,der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27] a Case Study of Mosaicism with Menstrual Disorders.
Clinical laboratoryCardiovascular outcomes and aortic growth in pregnant women with Turner syndrome: data from the ESC EORP Registry Of Pregnancy And Cardiac disease (ROPAC) III.
European journal of preventive cardiologyAssociation of coarctation of aorta with Turner syndrome: a case report.
Frontiers in pediatricsEpigenetic age acceleration in Turner and Klinefelter syndrome: Correlations with clinical aging markers.
Clinical epigenetics45, X/46, XY mosaicism and gender incongruence: ethical, medical, and psychological considerations.
Journal of pediatric endocrinology & metabolism : JPEMAnalysis of influencing factors on Turner syndrome combined with autoimmune thyroid disease.
Frontiers in endocrinologyExome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.
Diagnostics (Basel, Switzerland)Cardiovascular abnormalities in children with Turner syndrome: a 15-year retrospective study and analysis of warning signs.
Frontiers in pediatricsTwo Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants.
JCEM case reportsA Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.
Reports (MDPI)Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Dermatopathology (Basel, Switzerland)Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.
Frontiers in pediatrics"More Than Just the Two Percent": The reproductive politics of envisioning abortion and miscarriage in Turner syndrome.
Medical anthropology quarterlyLifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients.
Journal of vascular surgery cases and innovative techniquesDiagnostic value of cardiac magnetic resonance imaging during transition care in adolescents with Turner syndrome.
Frontiers in pediatricsGeneralized Pustular Psoriasis as a Systemic Inflammatory Disease: Experience With 38 Japanese Cases Over 15 Years at a Single Institution.
CureusVirilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.
Journal of pediatric and adolescent gynecologyIncidence of hypothyroidism in girls with Turner syndrome in Korea on the basis of real-world evidence from the Korean National Health Insurance Service database.
European journal of endocrinologyBilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.
International medical case reports journalPerception and Attitude towards Fertility and Fertility Preservation Options in Parents of Children With Turner Syndrome: A Qualitative Survey Study.
Journal of pediatric and adolescent gynecologyLanding zones optimization using transcatheter electrosurgical septotomy for endovascular repair of post-dissection aortic aneurysms.
Journal of vascular surgeryMagnetic Resonance Neurography Findings in Clinically Suspected Posterior Interosseous Neuropathy.
Orthopaedic journal of sports medicineLive birth following multimodal therapy in a patient with asherman's syndrome, recurrent pregnancy loss, and polycystic ovarian syndrome: a case report and literature review.
Contraception and reproductive medicineSurgical correction of interrupted aortic arch type B and aortic root aneurysm in an adult patient with Turner syndrome.
Cardiology in the young[A case of Turner syndrome with double pseudo-isodicentric X chromosome and mosaic karyotype diagnosed prenatally and a literature review].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsParsonage-Turner Syndrome Following COVID-19 Exposures: A Systematic Review.
Hand (New York, N.Y.)Bilateral Parsonage-Turner Syndrome in a Patient With Hemophagocytic Lymphohistiocytosis.
Case reports in neurological medicineMagnetic Resonance Neurography of Sports-Related Peripheral Nerve Injuries of the Shoulder Region.
Sports healthCharacterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution.
GenesImpact of COVID-19 on growth hormone therapy efficacy in pediatric patients with short stature.
Endocrine connectionsGlobal burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.
International urology and nephrologyClinical analysis of karyotypes and phenotypes in 87 cases of Turner syndrome during transitional period.
BMC pediatrics[Transposition of the Superior Mesenteric Artery at the Infrarenal Segment of the Aorta in "Nut Cracker Syndrome"].
Zentralblatt fur ChirurgieGrowth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.
American journal of medical genetics. Part AMental Health Diagnoses Associated With Sex Chromosome Anomalies.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsMinipuberty in girls with Turner syndrome provides insight into reproductive potential-a prospective cohort study.
Fertility and sterilityThe Ovary-Liver Axis: Molecular Science and Epidemiology.
International journal of molecular sciencesMalignancy Risk in Turner Syndrome+Y, Early Gonadectomy, and the Ethics of Parental Choices.
PediatricsA novel endovascular perfusion branch strategy to reduce the risk of spinal cord ischemia in complex thoracoabdominal aortic aneurysm repair.
Journal of vascular surgery cases and innovative techniquesPopulation-based assessment of neurodevelopmental and mental health diagnoses among pediatric patients with Turner Syndrome: A PEDSnet study.
medRxiv : the preprint server for health sciencesPregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC registry of pregnancy and cardiac disease (ROPAC) III.
European heart journal. Quality of care & clinical outcomesMetabolic profiles of Turner syndrome: A real-world cohort study.
Medicina clinicaAbnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome.
Molecular syndromologyThe Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis.
American journal of medical genetics. Part C, Seminars in medical geneticsParsonage-Turner Syndrome After Bacterial Pharyngitis in Childhood With Resulting Glenohumeral Joint Subluxation in Adulthood.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport MedicineCubital Tunnel Release in a Patient With Parsonage-Turner Syndrome: A Case Report.
CureusInkjet printing of pharmaceutical tattoos for the direct deposition of oestradiol onto skin in turner syndrome.
European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.VIsolated Feet Edema in Turner Syndrome by Prenatal Ultrasonography - Case Report and Literature Review.
International journal of women's healthTurner syndrome and postpubertal Empty sella syndrome: a case report and literature review.
Frontiers in endocrinologyAnalyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021.
Annals of medicinePorto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome.
Journal of clinical medicinePost-Transplant Pain and Paralysis: Neurologic Amyotrophy as an Atypical Cause of Shoulder Dysfunction Following Hematopoietic Stem Cell Transplant.
CancersIsolated Pectoralis Major and Tricep Atrophy Secondary to Neuralgic Amyotrophy.
CureusEvaluation of an AI facial recognition system for Turner Syndrome screening and facial complexity: a prospective cohort.
International journal of medical informaticsCase Report: Recurrent acute myocardial infarction in a young woman-the importance of identifying the uncommon underlying causes.
Frontiers in cardiovascular medicineUnusual Association of 46XY/45XO Mosaic Turner Syndrome and Mullerian Agenesis.
Nigerian journal of clinical practiceCommentary on "Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation".
Fertility and sterilityVisualizing Turner Syndrome.
American journal of medical genetics. Part C, Seminars in medical geneticsCorrigendum: Epidemiological analysis of turner syndrome in children aged 0-14 years: global, regional, and national perspectives (1990-2021).
Frontiers in endocrinologyCharacterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution.
Journal of the Endocrine SocietyAn Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.
Antioxidants (Basel, Switzerland)Fetal hypoplastic left heart syndrome and neonatal follow-up in Polish Mother's Memorial Hospital Research Institute report from January 2023 to January 2024: an improvement of survival rate.
Ginekologia polskaEfficacy and Safety of Three-Years Growth Hormone Treatment in Girls With Turner Syndrome and Growth Hormone Deficiency: A Case-Control Study.
Clinical endocrinology[Transition in cases of complex endocrine and diabetic diseases].
Innere Medizin (Heidelberg, Germany)Fertility preservation by ovarian tissue cryopreservation of children in China--umbilical single-incision surgery and perioperative experience.
Frontiers in endocrinologyEpithelial Ovarian Tumor in a Streak Ovary: A Rare Entity in Turner Syndrome Managed by a Minimally Invasive Approach.
Journal of obstetrics and gynaecology of IndiaPerinatal outcomes of cystic hygroma: a systematic review and meta-analysis.
American journal of obstetrics & gynecology MFMAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Síndrome de Turner.
Comunidades
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Ainda não existe comunidade no Raras para Síndrome Turner
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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.
- A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).
- Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.
- Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.
- Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.
- Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records.Genetics in medicine : official journal of the American College of Medical Genetics· 2026· PMID 41510674mais citado
- Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.
- Successful Kidney Transplantation in Turner Syndrome: A Case for Feasibility and Favorable Outcomes.
- Turner syndrome as a state of increased autoimmune susceptibility: evidence from rheumatic diseases.
- Physical Therapy Management of Scapular Dyskinesis Due to Spinal Accessory Nerve Palsy Secondary to Neuralgic Amyotrophy: A Case Report.
- Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:881(Orphanet)
- MONDO:0019499(MONDO)
- Sindrome de Turner(PCDT · Ministério da Saúde)
- GARD:7831(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q202849(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
