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Síndrome Turner
ORPHA:881CID-10 · Q96.0CID-11 · LD50.0PCDT · SUSDOENÇA RARA

A Síndrome de Turner é uma alteração que ocorre nos cromossomos e está relacionada à ausência total ou parcial de um cromossomo X.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
27 ensaios
152 total registrados no ClinicalTrials.gov
Publicações científicas
5.501 artigos
Último publicado: 2026 Apr
Medicamentos
7 registrados
SOMATROPIN, ESTROGENS, CONJUGATED, ESTRADIOL

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SOMATROPINESTROGENS, CONJUGATEDESTRADIOLETHINYL ESTRADIOLOXANDROLONEMEDROXYPROGESTERONE ACETATELONAPEGSOMATROPIN

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Antenatal
+ childhood, infancy, neonatal
🏥
SUS: Cobertura completaScore: 70%
PCDT disponívelCentros em: PA, PR, SC, RS, ES +10CID-10: Q96.0
🇧🇷Dados SUS / DATASUS2024
680
internações/ano
R$ 4.120
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPMGRJRSPR
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
18 sintomas
📏
Crescimento
15 sintomas
🫃
Digestivo
9 sintomas
🧬
Pele e cabelo
8 sintomas
😀
Face
7 sintomas
❤️
Coração
7 sintomas

+ 31 sintomas em outras categorias

Características mais comuns

90%prev.
Cúbito valgo
Muito frequente (99-80%)
90%prev.
Maturação esquelética atrasada
Muito frequente (99-80%)
90%prev.
Infertilidade feminina
Muito frequente (99-80%)
90%prev.
Disgenesia gonadal
Muito frequente (99-80%)
90%prev.
Retardo do crescimento pós-natal
Muito frequente (99-80%)
90%prev.
Aumento do nível circulante de gonadotropina
Muito frequente (99-80%)
115sintomas
Muito frequente (22)
Frequente (38)
Ocasional (43)
Muito raro (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 115 características clínicas mais associadas, ordenadas por frequência.

Cúbito valgoCubitus valgus
Muito frequente (99-80%)90%
Maturação esquelética atrasadaDelayed skeletal maturation
Muito frequente (99-80%)90%
Infertilidade femininaFemale infertility
Muito frequente (99-80%)90%
Disgenesia gonadalGonadal dysgenesis
Muito frequente (99-80%)90%
Retardo do crescimento pós-natalPostnatal growth retardation
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.501PubMed
Últimos 10 anos200publicações
Pico2025143 papers
Linha do tempo
2026Hoje · 2026🧪 1987Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

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.

Genes codificantes
840
no cromossomo X
Haploinsuficientes
123
perda de dose patogênica
Triplosensíveis
3
excesso de dose patogênico

Genes dose-sensíveis

Genes do cromossomo X com evidência de sensibilidade à dose segundo ClinGen Dosage Map . São fortes candidatos a explicar parte do fenótipo (126 ao todo).

Fontes: ClinGen Dosage Sensitivity Map · GENCODE v44 (GRCh38)

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado4
3Fase 36
2Fase 23
·Pré-clínico14
Medicamentos catalogadosEnsaios clínicos· 7 medicamentos · 20 ensaios
✓ Aprovados — podem ser usados hoje
SOMATROPIN
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

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

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

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

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

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

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

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

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

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

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

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

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

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

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

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

Serviço de Referência

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

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

19 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT07221851 · Trial Investigating the Efficacy and Safety of Weekly Lonape…Recrutando
PHASE3
NCT02417740 · Natural History of Noncirrhotic Portal HypertensionRecrutando
NCT04948658 · Gonadal Tissue Freezing for Fertility Preservation in Indivi…Recrutando
NCT06668805 · A Basket Study of Vosoritide in Children With Turner Syndrom…Recrutando
PHASE2
NCT06507007 · Genetic and Epigenetic Background of Inner Ear Dysfunction i…Recrutando
NCT07344012 · Parental Project Amongst 93 Patients With Turner SyndromeRecrutando
NCT06834594 · Bleeding Patterns in Sequential and Continuous Progesterone …Recrutando
PHASE4
NCT06178887 · Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular…Recrutando
NCT06794190 · Characterization of Hepatopathy in Turner Syndrome: Analysis…Recrutando
NCT06780514 · Cardiopulmonary Exercise Testing in Girls (8-18y) with Turne…Recrutando
NA
NCT03812913 · Neuropsychological Assessment of Children and Adolescents Wi…Recrutando
NCT05052606 · Inspiring New Science In Guiding Healthcare in Turner Syndro…Recrutando
NCT06570460 · Long Term Effects of Oral Versus Transdermal Estrogen Replac…Recrutando
PHASE4
NCT06544473 · Determining Dose Equivalence Between Oral and Transdermal Es…Recrutando
PHASE4
NCT05849389 · Vosoritide for Short Stature in Turner SyndromeRecrutando
PHASE2
NCT05740579 · The Danish TURNER Cryopreservation StudyRecrutando
NA
NCT06325618 · Lymphedema, Low-grade Inflammation and the Vasculature in Tu…Recrutando
NCT06202846 · Identification of Y Chromosome From Free Circulating DNA in …Recrutando
NA
NCT03836300 · Parent and Infant Inter(X)Action Intervention (PIXI)Por convite
NA

Outros ensaios clínicos

152 ensaios clínicos encontrados, 27 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥇Melhor nível de evidência: Revisão sistemática
Timeline de publicações
2.354 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.354

#1

A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).

Neuroscience and biobehavioral reviews2026 Mar 09

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.

#2

Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.

Circulation2026 Feb 17

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.

#3

Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.

Clinics and research in hepatology and gastroenterology2026 Mar

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.

#4

Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.

BMC neurology2026 Jan 26

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.

#5

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 Genetics2026 Mar

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

Ver todas no PubMed

📚 EuropePMC3.552 artigos no totalmostrando 195

2026

Adipose tissue distribution and metabolic profile of young individuals with turner syndrome.

Journal of the Endocrine Society
2026

Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

Bioinformatics (Oxford, England)
2026

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

Taiwanese journal of obstetrics &amp; gynecology
2026

A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).

Neuroscience and biobehavioral reviews
2025

Fertility preservation in patients with Turner syndrome: a SWOT analysis.

Reproductive biomedicine online
2026

Reproductive potential in mosaic Turner syndrome: impact of karyotype pattern and mosaicism ratio.

Climacteric : the journal of the International Menopause Society
2026

Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.

International ophthalmology
2026

Late Presentation of Brachial Plexus Traction Injury After Fixation of Chronic Clavicle Nonunion Mimicking Brachial Plexitis: A Case Report and Literature Review.

Cureus
2026

Karyotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients.

Journal of ovarian research
2026

Estrogen deficiency and risk of hearing loss in pediatric Turner syndrome.

The Journal of clinical investigation
2026

Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography.

Journal of clinical neuromuscular disease
2026

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

Genes
2026

Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study.

Journal of clinical research in pediatric endocrinology
2026

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Frontiers in endocrinology
2026

Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.

bioRxiv : the preprint server for biology
2026

A case report on atypical chromosomal variations in Turner syndrome.

Molecular cytogenetics
2025

Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.

La Tunisie medicale
2026

Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.

Circulation
2026

Madelung Deformity: A Current Concepts Review.

The Journal of hand surgery
2026

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.

Journal of clinical medicine
2026

Ultra-performance Liquid Chromatography-mass Spectrometry-based metabolic profiling of prepubertal children with Turner syndrome.

Pediatric research
2026

Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.

Clinics and research in hepatology and gastroenterology
2026

Growth patterns: Pathology vs. Normal variation.

Growth hormone &amp; IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
2026

Neuralgic amyotrophy: Incidence, specialty of diagnosing clinician, and delays in treatment.

Hand surgery &amp; rehabilitation
2026

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

Case reports in genetics
2026

The 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 Council
2025

Prevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome.

CJC pediatric and congenital heart disease
2026

Parsonage-Turner syndrome: current perspectives on etiology, diagnosis, and management.

Clinics in shoulder and elbow
2025

Phalangeal bone growth and implications in Turner syndrome.

Frontiers in endocrinology
2026

Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.

BMC neurology
2026

Improving 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 counseling
2026

Prevalence 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 paediatrics
2026

Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.

Journal of assisted reproduction and genetics
2026

Diabetes in Turner syndrome: a distinct entity demanding specific therapeutic strategies.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
2026

ENDO-ERN expert opinion: addressing the endocrine needs in considering genital surgery in disorders/differences in sex development individuals in Europe.

European journal of endocrinology
2026

Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.

Human reproduction (Oxford, England)
2026

The biology and clinical aspects of female infertility.

Systems biology in reproductive medicine
2026

Standardized multidisciplinary care for children and adolescents with differences of sex development: a health intelligence approach.

The journal of sexual medicine
2026

A National Survey of Paediatric Turner Syndrome Services in the UK: Current Practice and Variability in Care.

Hormone research in paediatrics
2026

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
2025

Nerve injuries in cervical spine surgery via anterior approach: a comprehensive review.

Journal of spine surgery (Hong Kong)
2026

Variant phenotypic expression of mosaic Turner syndrome with type II MRKH (MURCS association).

BMJ case reports
2026

Long-Term experience with growth hormone therapy in pediatric growth disorders: an analysis of the LG growth study data.

Endocrine
2026

The surgical treatment of Parsonage-Turner Syndrome: A PRISMA scoping review.

Neurosurgical review
2026

A 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.

JACC. Advances
2025

DXA Derived Low Bone Mass in a Cohort of Prepubertal Eastern Indian Girls With Turner Syndrome Disappeared Following Adjustment for Short Stature.

Clinical endocrinology
2026

Predictors of spontaneous puberty - guiding of puberty induction in Turner syndrome.

Expert review of endocrinology &amp; metabolism
2025

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.

Orphanet journal of rare diseases
2025

A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De Novo F8 Variant.

International journal of molecular sciences
2025

Bone health and body composition in Indian girls with Turner syndrome: analysis based on therapeutic interventions.

Endocrine
2026

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

Molecular genetics &amp; genomic medicine
2026

X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.

Current biology : CB
2025

[Diaphragmatic Paralysis in Parsonage-Turner syndrome: beyond brachial neuralgia].

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2025

Real-World Evidence of Treatment Patterns and Costs of Turner Syndrome and Noonan Syndrome in the USA.

Hormone research in paediatrics
2025

Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.

PloS one
2025

HSATII RNA-dependent triplex formation in early human embryogenesis as a potential mechanism for Y chromosome loss in Turner syndrome.

Frontiers in molecular biosciences
2025

Headaches in a Patient With Turner Syndrome.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
2025

Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder.

Molecular syndromology
2025

The role of ultrasonography of the brachial plexus in differentiating between Parsonage-Turner syndrome and neuroborreliosis. A pictorial review.

Polish journal of radiology
2025

A 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)
2025

Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.

Cardiology in review
2025

Clinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities.

Journal of the ASEAN Federation of Endocrine Societies
2025

Epidural Anesthesia in a Patient With Turner Syndrome: A Case Report.

Cureus
2025

Turner Syndrome and Hepatic Adenomas: A Case Report.

Cureus
2025

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

Frontiers in psychology
2025

Bone 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 one
2026

Severe Coronary Artery Disease and Nearly Atretic Aortic Coarctation in a Young Woman.

JACC. Case reports
2025

Turner'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 Studies
2025

Synthesizing the latest guideline-based recommendations for the management of female hypogonadism.

Archives of endocrinology and metabolism
2025

Exercise capacity in girls with Turner syndrome.

European journal of pediatrics
2026

Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.

Journal of perinatal medicine
2025

Prenatal 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 health
2025

A retrospective analysis of real-world height outcomes of growth hormone treatment in Syrian children.

BMC endocrine disorders
2026

Reconstruction of Thumb and Index Flexion in High Median Nerve Paralysis Using a Single Radial Wrist Extensor Tendon Transfer.

The Journal of hand surgery
2025

A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review.

Molecular genetics &amp; genomic medicine
2025

Letter to Editor: "Unusual Association of 45,X/46,XY Mosaic Turner Syndrome and Müllerian Agenesis".

Nigerian journal of clinical practice
2025

Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study.

Pediatrics and neonatology
2025

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).

Clinical and experimental reproductive medicine
2025

Ring Y chromosome as an unusual cause of severe oligozoospermia.

Endocrinology, diabetes &amp; metabolism case reports
2025

Complete Labial Fusion Causing Urinary Retention and Pyo-Hematocolpos in a Female With Turner Syndrome.

Cureus
2025

The 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 diseases
2025

Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis.

Annals of medicine
2026

Meta-Analysis: Liver Disease Burden and Associated Factors in Turner Syndrome.

Alimentary pharmacology &amp; therapeutics
2026

Epidemiology of Neuralgic Amyotrophy-A Retrospective Analysis of Data From a Large German Health Insurance Company.

Muscle &amp; nerve
2025

Clinical Genetic Study of Mosaic Pseudoisodicentric X Chromosome Patient.

Clinical laboratory
2025

Global Prevalence of Infertility Attributable to Sex Chromosome Abnormalities: Insights from the Global Burden of Disease Study.

International journal of women's health
2026

Low 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 Densitometry
2025

Global burden and between-country inequalities in Turner syndrome from 1990 to 2021.

Acta obstetricia et gynecologica Scandinavica
2025

Parsonage-Turner Syndrome: An Unusual Cause of Postoperative Complications.

Cureus
2025

Growth hormone therapy and chromosomal mosaicism in turner syndrome: 25 years of growth outcomes in Taiwan.

Frontiers in endocrinology
2026

Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies Across the Globe: A 20-Year Systematic Review.

American journal of medical genetics. Part A
2025

Unusual dermoscopic features of multiple pilomatricomas, including a rare bullous variant.

Dermatology reports
2025

Analysis of Risk Factors and Prediction Model of Chromosomal Abnormalities in Embryos from Patients with Missed Miscarriage.

International journal of women's health
2025

Parsonage-Turner Syndrome and Vocal Fold Paresis Following Soberana 2 FINLAY-FR-2 COVID-19 Vaccination: A Case Report.

Clinical case reports
2025

Quantitative MRI of Muscle Denervation in Subacute Parsonage-Turner Syndrome: A Prospective, Longitudinal Study.

NMR in biomedicine
2025

Hourglass-Like Constriction of the Brachial Plexus in an Adult Patient: A Case Report.

Neurosurgery practice
2026

A Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome.

American journal of medical genetics. Part A
2025

Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.

BMJ paediatrics open
2025

Considerations when caring for a child with "male Turner Syndrome".

Journal of pediatric nursing
2025

Bone 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 genetics
2025

The Process of Pubertal Induction in Girls with Turner Syndrome: From Patients' and Family's Perspective.

Hormone research in paediatrics
2025

Evaluation and Management of Recurrent Atrial Flutter in Neonates.

Journal of clinical medicine
2025

Combined Application of Multiple Technologies in Prenatal Diagnosis of a Fetus with Mosaic Isodicentric Y Chromosome.

Clinical laboratory
2025

Minipuberty as a window into the reproductive future for girls with Turner syndrome: is the image clear?

Fertility and sterility
2025

Mosaic Turner Syndrome and Treatment-Resistant Schizophrenia.

The primary care companion for CNS disorders
2025

Pregnancy in Women with Turner Syndrome: Balancing Reproductive Advances with Maternal Safety.

European journal of preventive cardiology
2026

Fertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians: A Pilot Cross-Sectional Survey Study.

Journal of pediatric and adolescent gynecology
2025

Single-cell transcriptomics of organoids reveals transcriptional control of germline stem cell fate by an E2F1-TFAP2C-SOX17 positive-feedback loop in Turner syndrome.

Cell &amp; bioscience
2025

Diffuse Pulmonary Meningotheliomatosis Presenting with the Cheerios Sign Diagnosed by a Transbronchial Lung Cryobiopsy: A Case Report.

Internal medicine (Tokyo, Japan)
2025

Electroconvulsive Therapy for Refractory Auditory Hallucinations in Turner Syndrome.

The primary care companion for CNS disorders
2025

Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report.

Clinical case reports
2025

Anti-Müllerian hormone as a biomarker of ovarian function and spontaneous puberty in Turner syndrome: a systematic review.

Frontiers in endocrinology
2025

Neurological manifestations of Mpox virus during the recent global outbreak: a systematic review.

BMC infectious diseases
2025

Serum Neurofilament Light Chain Level as an Indicator of Axonal Injury in Parsonage-Turner Syndrome (Neuralgic Amyotrophy).

Journal of the peripheral nervous system : JPNS
2025

How Does Turner Syndrome Affect Quality of Life? A Systematic Review.

Medicina (Kaunas, Lithuania)
2025

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Genes
2025

Evaluating and predicting Klinefelter and Turner syndrome burden in China from 1990 to 2021: A study based on the global burden of disease database.

Medicine
2025

Approach to the Patient With Turner Syndrome.

The Journal of clinical endocrinology and metabolism
2025

From Replacement to Tailoring: Evolving Concepts in the Therapy for Short Stature.

Hormone research in paediatrics
2025

Outcomes of pregnancies that screened positive for sex chromosome aneuploidy ascertained via cell-free DNA screening.

Journal of genetic counseling
2026

Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.

American journal of medical genetics. Part A
2025

Patients with Neuralgic Amyotrophy Commonly Visit the Emergency Department Without Receiving a Correct Diagnosis.

Next research
2025

Turner syndrome with pulmonary arteriovenous malformation: a case report.

Frontiers in cardiovascular medicine
2025

High-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 &amp; gynecology
2025

Rapid 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 &amp; gynecology
2026

High frequency of balance abnormalities in Turner syndrome.

Brazilian journal of otorhinolaryngology
2025

Case report: Cervical artery dissection in a patient with Turner Syndrome.

Journal of American college health : J of ACH
2025

Edwards syndrome: Neurocognitive and linguistic profile, diagnosis, overlaps and treatment.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2025

44,X,der(21;22)(q10;q10)[43]/45,XX,der(21;22)(q10;q10)[27] a Case Study of Mosaicism with Menstrual Disorders.

Clinical laboratory
2025

Cardiovascular 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 cardiology
2025

Association of coarctation of aorta with Turner syndrome: a case report.

Frontiers in pediatrics
2025

Epigenetic age acceleration in Turner and Klinefelter syndrome: Correlations with clinical aging markers.

Clinical epigenetics
2025

45, X/46, XY mosaicism and gender incongruence: ethical, medical, and psychological considerations.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Analysis of influencing factors on Turner syndrome combined with autoimmune thyroid disease.

Frontiers in endocrinology
2025

Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.

Diagnostics (Basel, Switzerland)
2025

Cardiovascular abnormalities in children with Turner syndrome: a 15-year retrospective study and analysis of warning signs.

Frontiers in pediatrics
2025

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants.

JCEM case reports
2025

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

Reports (MDPI)
2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Dermatopathology (Basel, Switzerland)
2025

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
2025

"More Than Just the Two Percent": The reproductive politics of envisioning abortion and miscarriage in Turner syndrome.

Medical anthropology quarterly
2025

Lifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients.

Journal of vascular surgery cases and innovative techniques
2025

Diagnostic value of cardiac magnetic resonance imaging during transition care in adolescents with Turner syndrome.

Frontiers in pediatrics
2025

Generalized Pustular Psoriasis as a Systemic Inflammatory Disease: Experience With 38 Japanese Cases Over 15 Years at a Single Institution.

Cureus
2025

Virilization and Hyperandrogenism in Turner Syndrome without Y Mosaicism: A Case Report and Review of the Literature.

Journal of pediatric and adolescent gynecology
2025

Incidence 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 endocrinology
2025

Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.

International medical case reports journal
2025

Perception and Attitude towards Fertility and Fertility Preservation Options in Parents of Children With Turner Syndrome: A Qualitative Survey Study.

Journal of pediatric and adolescent gynecology
2025

Landing zones optimization using transcatheter electrosurgical septotomy for endovascular repair of post-dissection aortic aneurysms.

Journal of vascular surgery
2025

Magnetic Resonance Neurography Findings in Clinically Suspected Posterior Interosseous Neuropathy.

Orthopaedic journal of sports medicine
2025

Live 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 medicine
2025

Surgical correction of interrupted aortic arch type B and aortic root aneurysm in an adult patient with Turner syndrome.

Cardiology in the young
2025

[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 genetics
2025

Parsonage-Turner Syndrome Following COVID-19 Exposures: A Systematic Review.

Hand (New York, N.Y.)
2025

Bilateral Parsonage-Turner Syndrome in a Patient With Hemophagocytic Lymphohistiocytosis.

Case reports in neurological medicine
2025

Magnetic Resonance Neurography of Sports-Related Peripheral Nerve Injuries of the Shoulder Region.

Sports health
2025

Characterization of Constitutional Ring Chromosomes over 37 Years of Experience at a Single-Site Institution.

Genes
2025

Impact of COVID-19 on growth hormone therapy efficacy in pediatric patients with short stature.

Endocrine connections
2026

Global burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.

International urology and nephrology
2025

Clinical analysis of karyotypes and phenotypes in 87 cases of Turner syndrome during transitional period.

BMC pediatrics
2025

[Transposition of the Superior Mesenteric Artery at the Infrarenal Segment of the Aorta in "Nut Cracker Syndrome"].

Zentralblatt fur Chirurgie
2025

Growth 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 A
2025

Mental 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 Genetics
2025

Minipuberty in girls with Turner syndrome provides insight into reproductive potential-a prospective cohort study.

Fertility and sterility
2025

The Ovary-Liver Axis: Molecular Science and Epidemiology.

International journal of molecular sciences
2025

Malignancy Risk in Turner Syndrome+Y, Early Gonadectomy, and the Ethics of Parental Choices.

Pediatrics
2025

A 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 techniques
2025

Population-based assessment of neurodevelopmental and mental health diagnoses among pediatric patients with Turner Syndrome: A PEDSnet study.

medRxiv : the preprint server for health sciences
2025

Pregnancy 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 &amp; clinical outcomes
2025

Metabolic profiles of Turner syndrome: A real-world cohort study.

Medicina clinica
2026

Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome.

Molecular syndromology
2025

The 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 genetics
2025

Parsonage-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 Medicine
2025

Cubital Tunnel Release in a Patient With Parsonage-Turner Syndrome: A Case Report.

Cureus
2025

Inkjet 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.V
2025

Isolated Feet Edema in Turner Syndrome by Prenatal Ultrasonography - Case Report and Literature Review.

International journal of women's health
2025

Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review.

Frontiers in endocrinology
2025

Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021.

Annals of medicine
2025

Porto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome.

Journal of clinical medicine
2025

Post-Transplant Pain and Paralysis: Neurologic Amyotrophy as an Atypical Cause of Shoulder Dysfunction Following Hematopoietic Stem Cell Transplant.

Cancers
2025

Isolated Pectoralis Major and Tricep Atrophy Secondary to Neuralgic Amyotrophy.

Cureus
2025

Evaluation of an AI facial recognition system for Turner Syndrome screening and facial complexity: a prospective cohort.

International journal of medical informatics
2025

Case Report: Recurrent acute myocardial infarction in a young woman-the importance of identifying the uncommon underlying causes.

Frontiers in cardiovascular medicine
2025

Unusual Association of 46XY/45XO Mosaic Turner Syndrome and Mullerian Agenesis.

Nigerian journal of clinical practice
2025

Commentary on "Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation".

Fertility and sterility
2025

Visualizing Turner Syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics
2025

Corrigendum: Epidemiological analysis of turner syndrome in children aged 0-14 years: global, regional, and national perspectives (1990-2021).

Frontiers in endocrinology
2025

Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution.

Journal of the Endocrine Society
2025

An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.

Antioxidants (Basel, Switzerland)
2025

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 polska
2025

Efficacy and Safety of Three-Years Growth Hormone Treatment in Girls With Turner Syndrome and Growth Hormone Deficiency: A Case-Control Study.

Clinical endocrinology
2025

[Transition in cases of complex endocrine and diabetic diseases].

Innere Medizin (Heidelberg, Germany)
2025

Fertility preservation by ovarian tissue cryopreservation of children in China--umbilical single-incision surgery and perioperative experience.

Frontiers in endocrinology
2025

Epithelial Ovarian Tumor in a Streak Ovary: A Rare Entity in Turner Syndrome Managed by a Minimally Invasive Approach.

Journal of obstetrics and gynaecology of India
2025

Perinatal outcomes of cystic hygroma: a systematic review and meta-analysis.

American journal of obstetrics &amp; gynecology MFM
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Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. A hierarchical gene-hormone model of cognitive circuit development in Turner Syndrome (45,X).
    Neuroscience and biobehavioral reviews· 2026· PMID 41812715mais citado
  2. Aortic Dissection in Women With Turner Syndrome: Impact of Revised Guidelines on Incidence-A Nationwide Register-Based Cohort Study, 2001-2023.
    Circulation· 2026· PMID 41697981mais citado
  3. Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome.
    Clinics and research in hepatology and gastroenterology· 2026· PMID 41655792mais citado
  4. Recurrent bilateral brachial plexus neuritis following rapid semaglutide-induced weight loss: a case report.
    BMC neurology· 2026· PMID 41588354mais citado
  5. 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
  6. Clinical Features and Prognosis of SEPTIN9-Related Hereditary Neuralgic Amyotrophy.
    Eur J Neurol· 2026· PMID 41989263recente
  7. Successful Kidney Transplantation in Turner Syndrome: A Case for Feasibility and Favorable Outcomes.
    Clin Case Rep· 2026· PMID 41982857recente
  8. Turner syndrome as a state of increased autoimmune susceptibility: evidence from rheumatic diseases.
    Z Rheumatol· 2026· PMID 41973124recente
  9. Physical Therapy Management of Scapular Dyskinesis Due to Spinal Accessory Nerve Palsy Secondary to Neuralgic Amyotrophy: A Case Report.
    Cureus· 2026· PMID 41960014recente
  10. Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity.
    Clin Case Rep· 2026· PMID 41953101recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:881(Orphanet)
  2. MONDO:0019499(MONDO)
  3. Sindrome de Turner(PCDT · Ministério da Saúde)
  4. GARD:7831(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. 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

Síndrome Turner
Compêndio · Raras BR

Síndrome Turner

ORPHA:881 · MONDO:0019499
🇧🇷 Brasil SUS
Internações
680/ano
Prevalência BR
1:2500 (mulheres)
Custo SUS
R$ 4.120/internação
Dados
DATASUS 2024
Geral
Prevalência
1-5 / 10 000
Herança
Not applicable, Unknown
CID-10
Q96.0 · Cariótipo 45, X
CID-11
Ensaios
27 ativos
Medicamentos
7 registrados
Início
Antenatal, Childhood, Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
UMLS
C0041408
EuropePMC
Wikidata
Wikipedia
Papers 10a
Evidência
🥇 Rev. sistemática
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