Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience

Emine Çamtosun İsmail Dündar Ayşehan Akıncı Leman Kayaş Nurdan Çiftçi

Published in: Journal of clinical research in pediatric endocrinology (2020)

Etiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/ without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
genome wide
gene expression
copy number