Adrenal hypoplasia congenita

别名

AHC、Congenital adrenal hypoplasia、Primary adrenal hypoplasia

近两年的全球研究 118L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-07
  Clinical Presentation and Early Outcomes of Congenital Endocrine Salt-Wasting Syndromes Unrelated to 21-Hydroxylase Deficiency
  Endocrinology, diabetes & metabolism · 被引 1 · DOI · Europe PMC
• 2026-06
  DAX-1 in sex determination and gonadal development: revisiting the anti-testis hypothesis
  Endocrine reviews · DOI · Europe PMC
• 2026-06病例报告
  A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls
  Journal of pediatric endocrinology & metabolism : JPEM · DOI · Europe PMC
• 2026-06开放获取
  Epidemiology of Childhood Cancer and Cancer Predisposition Syndromes (CPSs): A 20-Year Single-Center Cohort from the Greater Poland Region
  Children (Basel, Switzerland)
• 2026-05综述病例报告
  NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review
  Genes · DOI · Europe PMC
• 2026-05病例报告开放获取
  NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review
  Genes
• 2026-05
  X-linked Adrenal Hypoplasia Congenita: Diagnostic Clues and Novel NR0B1 Variants in Chinese Children
  Indian journal of pediatrics · DOI · Europe PMC
• 2026-05
  Multimodal mental imagery profiles and the prevalence of aphantasia and hyperphantasia in the general population
  Cortex; a journal devoted to the study of the nervous system and behav · DOI · Europe PMC
• 2026-05综述开放获取
  Transcription Factors in the Pathogenesis of Schizophrenia
  Life (Basel, Switzerland) · DOI · Europe PMC
• 2026-04
  Influences of mental imagery at different stages of Atkinson's and Shiffrin's modal model: Visual imagery is associated with enhanced iconic memory performance
  Cortex; a journal devoted to the study of the nervous system and behav · DOI · Europe PMC
• 2026-04开放获取
  Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshift
  Human genomics · DOI · Europe PMC
• 2026-04病例报告开放获取
  A De Novo Mutation (c.2423A>G) in <i>SAMD9</i> Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family
  Human mutation · DOI · Europe PMC
• 2026-04开放获取
  Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene
  Jornal de pediatria · DOI · Europe PMC
• 2026-03综述开放获取
  Congenital aldosterone deficiency and its resistance
  Endocrine journal · DOI · Europe PMC
• 2026-03综述开放获取
  Neuroradiological Insights into Visual Mental Imagery: Structural and Functional Imaging of Ventral and Dorsal Streams
  Brain sciences · DOI · Europe PMC
• 2026-03
  Age differences in visual and multisensory imagery: Notes on distributions of aphantasia and hyperphantasia in individuals aged 20s-70s
  Neuropsychologia · DOI · Europe PMC
• 2026-03开放获取
  From brown to white: Brown adipose tissue endothelial cells whiten in culture conditions
  Molecular metabolism · DOI · Europe PMC
• 2026-03开放获取
  Increased expression of aromatase after focal cerebral ischemia: Relevance to neuroprotection and functional recovery
  Neuroprotection (Chichester, England) · DOI · Europe PMC
• 2026-03开放获取
  The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids
  Development (Cambridge, England) · 被引 1 · DOI · Europe PMC
• 2026-03开放获取
  Functional Characterization of <i>POLE1</i> Variant Fibroblasts Reveals Replication Stress and Increased Sensitivity to Genotoxic Stress
  Diseases (Basel, Switzerland) · DOI · Europe PMC

中国境外的在招试验 5L2

共 5 项。

• 招募中NCT04885179
  SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)
  观察性 · 2025/04/22University of California, San Francisco
  美国
• 招募中NCT06669949
  Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
  观察性 · 2025/04/22University of California, San Francisco
  美国
• 尚未开始招募NCT04252001
  Growing up With the Young Endocrine Support System (YESS!)
  不适用 · 干预性 · 2024/12/01dr. Laura C. G. de Graaff-Herder
  比利时、荷兰、西班牙、英国
• 招募中NCT01793168
  Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
  观察性 · 2010/07Sanford Health
  澳大利亚、美国
• 招募中NCT04569149
  Primordial Dwarfism Registry
  观察性 · 2008/03/11Nemours Children's Clinic
  美国

外部标识与链接