Publications by authors named "Ana Moriano-Gutierrez"
Article Synopsis
- Familial glucocorticoid deficiency (FGD) is a genetic disorder marked by low cortisol levels and elevated ACTH, leading to symptoms like low blood sugar, fatigue, and skin hyperpigmentation.
- The condition is primarily caused by mutations in specific genes, with the case reported focusing on FGD type 4 linked to a new mutation in the NNT gene.
- Accurate diagnosis is crucial for effective treatment and management, as untreated FGD can lead to serious health issues or be life-threatening.
Article Synopsis
- Bicuspid aortic valve (BAV) is the most common congenital heart condition, and this study aimed to analyze its characteristics in children and teens aged 0-18 using a Spanish registry.* -
- Data was collected from 1681 pediatric patients across 33 hospitals, showing that most were male (69.6%), with 63.7% having isolated BAV and 23.4% having associated left-sided heart conditions.* -
- The findings provide a comprehensive overview of the clinical features and outcomes of BAV in the pediatric population, marking the first large-scale population-based study on this topic in Spain.*