| Abstrakt: |
A recent study from the University of Chicago explores the severe neurodevelopmental phenotype, diagnostic challenges, and treatment options for patients with Secisbp2 deficiency. The research highlights the complex syndrome resulting from defects in the SECISBP2 gene, leading to impaired selenoprotein synthesis and characteristic serum thyroid function tests. Early diagnosis and treatment are crucial for managing the multisystemic disorder, which presents significant challenges for clinicians. The study underscores the importance of understanding the role of selenoproteins in human health and emphasizes the need for long-term evaluation to assess the impact of therapy on patients with SECISBP2 deficiency. [Extracted from the article] |
