Publications by authors named "P M Fechner"
Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
January 2025
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare genetic condition that requires lifelong management from birth. Individuals with CAH and their families often face structural barriers to obtaining comprehensive care and treatment, including limited access to appropriate newborn screening, comprehensive care centers, and medications. Social and cultural barriers to care may include stigmatization, discrimination, and adverse medical experiences.
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- Turner syndrome (TS) involves the absence of a sex chromosome, and this study focuses on a specific mosaic form (45,X/47,XXX) that is observed in about 3% of TS cases.
- The research compared health outcomes and medical conditions among females with 45,X/47,XXX against those with nonmosaic 45,X and mosaic 45,X/46,XX, finding that 45,X/47,XXX had fewer neonatal issues and lower rates of some TS diagnoses.
- However, they were more prone to structural kidney problems and congenital heart disease while also having less chance of spontaneous menarche, indicating distinct health profiles associated with their chromosomal patterns.
Background: Children with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency require treatment with glucocorticoids, usually at supraphysiologic doses, to address cortisol insufficiency and reduce excess adrenal androgens. However, such treatment confers a predisposition to glucocorticoid-related complications. In 2-week phase 2 trials, patients with CAH who received crinecerfont, a new oral corticotropin-releasing factor type 1 receptor antagonist, had decreases in androstenedione levels.
View Article and Find Full Text PDFContext: Small cohorts of youth with congenital adrenal hyperplasia (CAH) demonstrate increased risk of obesity and poor cardiometabolic health.
Objective: To determine the odds of cardiometabolic-related diagnoses in youth with CAH compared to matched controls in a cross-sectional analysis in a large, multisite database (PEDSnet).
Design: Electronic health record data (2009-2019) were used to determine odds of cardiometabolic-related outcomes based on diagnosis, anthropometric and laboratory data using logistic regression among youth with CAH vs.