Background: Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed.
Case Presentation: A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature.
Objective: This study investigated clinical and laboratory differences between confirmed (RT-PCR-positive) and clinically suspected (RT-PCR-negative) COVID-19 pediatric patients, and explored factors associated with disease severity at presentation and duration of hospitalization.
Methods: Medical charts of COVID-19-confirmed and clinically suspected pediatric patients admitted to a tertiary hospital in Abu Dhabi were reviewed. Sociodemographic information and clinical and laboratory outcomes were retrieved and analyzed.
Congenital adrenal hyperplasia (CAH) is a monogenic disorder caused by genetic diversity in the gene, with 21-hydroxylase deficiency (21-OHD) as the most common type. Early sex assignment and early diagnosis of different genetic variations with a proper technique are important to reduce mortality and morbidity. Proper early sex identification reduces emotional, social, and psychological stress.
View Article and Find Full Text PDF