A Síndrome de Young é caracterizada pela falta de espermatozoides por causa de um bloqueio e por infecções repetidas nos seios da face e nos brônquios (os canais dos pulmões).
Introdução
O que você precisa saber de cara
A Síndrome de Young é caracterizada pela falta de espermatozoides por causa de um bloqueio e por infecções repetidas nos seios da face e nos brônquios (os canais dos pulmões).
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
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 17 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
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Unknown.
May play a role in cilium morphogenesis and ciliary function
Cytoplasm, cytoskeleton, cilium axonemeCytoplasmCytoplasm, cytoskeleton
Ciliary dyskinesia, primary, 55
An autosomal recessive form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Male infertility may result from reduced motility of spermatozoa. Some CILD55 affected individuals also exhibit obstructive azoospermia.
Variantes genéticas (ClinVar)
17 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 6 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
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 Young
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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
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
Mercury exposure, pink disease and Young's syndrome: a forgotten public health disaster.
Pink disease was once a widespread phenomenon, known to physicians throughout the Western world. Its prevalence declined massively once the source, mercury, was identified in several products. In modern medicine, pink disease rarely forms a differential and is known only to few physicians, despite the long-term effects of this illness. This report details a case of a man who suffered from pink disease as a child following his mother applying teething powder containing inorganic mercury to his gums for 12 weeks, from the age of 6 months. He received no treatment at the time. Throughout his lifetime, however, the man (in his 70s) has been diagnosed as infertile, and with bronchiectasis, despite a lack of convincing history to suggest an aetiology. The cause of these pathologies remains elusive, either organically occurring or components of Young's syndrome.
Barry-Perkins-Young syndrome.
Young syndrome, also named sinusitis-infertility syndrome, is named after urologist Dr. Donald Young who first observed this condition. It is a rare inherited syndrome similar to Kartagener syndrome and often presents in middle-aged men with chronic rhinosinusitis, reduced fertility due to azoospermia, and bronchiectasis. Its prevalence is comparable to Klinefelter syndrome and is one of the causes of both chronic sinopulmonary infections and azoospermia. Spermatogenesis is normal, and the reduced fertility is due to obstruction of sperm transport down the genital tract. Individuals born with this disorder have normally functioning lungs but tend to produce thick, viscous mucus, which also traps sperms in epididymis affecting their movement. The azoospermia is due to functional obstruction of sperm transportation down the epididymis.
Young's syndrome, a rare syndrome that can cause infertility and mimics cystic fibrosis and immotile-cilia syndrome: a case report.
Young's syndrome (YS) is a rare, inherited syndrome commonly seen in middle-aged men with chronic rhinosinusitis, nasal polyps, decreased fertility due to azoospermia, and bronchiectasis. In this paper, we present a case of YS of unknown cause together with a literature review. A 28-year-old male patient with the complaints of cough, sputum, recurrent nasal congestion, and shortness of breath lasting for more than ten years, was admitted to our clinic after bronchiectasis was observed in the thoracic computed tomography. An accurate diagnosis of YS is usually made late, which reduces patients' quality of life and leads to chronic respiratory problems. Failure to diagnose this disease may expose the patient to unnecessary and repeated hospitalizations and examinations, and result in treatment failure.
Impact on using cryopreservation of testicular or epididymal sperm upon intracytoplasmic sperm injection outcome in men with obstructive azoospermia: a systematic review and meta-analysis.
To determine whether there was a significant impact on using cryopreservation of testicular or epididymal sperm upon the outcomes of intracytoplasmic sperm injection (ICSI) in patients with obstructive azoospermia (OA). Systematic review and meta-analysis of 20 retrospective studies in databases from January 1, 1995, to June 1, 2020. Twenty articles were included in this study. A total of 3602 (64.1%) of 5616 oocytes injected with fresh epididymal sperm were fertilized, compared with 2366 (61.2%) of 3862 oocytes injected with cryopreserved sperm (relative risk ratio (RR) 0.96, 95% confidence interval (CI) (0.90, 1.02), P > 0.05). A total of 303 (44.1%) of 687 ICSI cycles using fresh epididymal sperm resulted in a clinical pregnancy, compared with 150 (36.6%) of 410 ICSI cycles using cryopreserved epididymal sperm (RR 0.84, 95% CI (0.72, 0.97), P < 0.05). In the testis, a total of 2147 (68.7%) of 3125 oocytes injected with fresh sperm were fertilized, compared with 1623 (63.5%) of 2557 oocytes injected with cryopreserved sperm (RR 0.97, 95% CI (0.90, 1.06), P > 0.05). A total of 151 (47.8%) of 316 ICSI cycles using fresh testicular sperm resulted in a clinical pregnancy, compared with 113 (38.2%) of 296 ICSI cycles using cryopreserved sperm (RR 0.87, 95% CI (0.72, 1.05), P > 0.05). In men with OA, there was a statistical lower clinical pregnancy rate (CPR) by using frozen epididymal sperm compared with fresh epididymal sperm, but showing no difference on fertilization rate (FR). Additionally, FR and CPR were not affected by whether the retrieved testicular sperm was frozen or fresh.
Pediatric Acute Kidney Injury: The Young Syndrome Has Grown Up.
Publicações recentes
Barry-Perkins-Young syndrome.
🥉 Relato de casoPediatric Acute Kidney Injury: The Young Syndrome Has Grown Up.
The combination of Young's syndrome and small cell lung cancer-A spiky connection?
📖 RevisãoTuberculosis, bronchiectasis, and infertility: what ailed George Orwell?
📚 EuropePMC9 artigos no totalmostrando 7
Mercury exposure, pink disease and Young's syndrome: a forgotten public health disaster.
BMJ case reportsBarry-Perkins-Young syndrome.
The Pan African medical journalYoung's syndrome, a rare syndrome that can cause infertility and mimics cystic fibrosis and immotile-cilia syndrome: a case report.
European review for medical and pharmacological sciencesImpact on using cryopreservation of testicular or epididymal sperm upon intracytoplasmic sperm injection outcome in men with obstructive azoospermia: a systematic review and meta-analysis.
Journal of assisted reproduction and geneticsPediatric Acute Kidney Injury: The Young Syndrome Has Grown Up.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care SocietiesLoss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.
PLoS geneticsAetiology of bronchiectasis in Guangzhou, southern China.
Respirology (Carlton, Vic.)Associações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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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.
- Mercury exposure, pink disease and Young's syndrome: a forgotten public health disaster.
- Barry-Perkins-Young syndrome.
- Young's syndrome, a rare syndrome that can cause infertility and mimics cystic fibrosis and immotile-cilia syndrome: a case report.
- Impact on using cryopreservation of testicular or epididymal sperm upon intracytoplasmic sperm injection outcome in men with obstructive azoospermia: a systematic review and meta-analysis.
- Pediatric Acute Kidney Injury: The Young Syndrome Has Grown Up.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies· 2020· PMID 31899754mais citado
- Young Syndrome.
- The combination of Young's syndrome and small cell lung cancer-A spiky connection?
- Tuberculosis, bronchiectasis, and infertility: what ailed George Orwell?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3471(Orphanet)
- OMIM OMIM:279000(OMIM)
- MONDO:0010220(MONDO)
- GARD:341(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1143515(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
