Article
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
The Journal of clinical endocrinology and metabolism - 1 Jan 2016
Guran Tulay, Buonocore Federica, Saka Nurcin, Ozbek Mehmet Nuri, Aycan Zehra, Bereket Abdullah, Bas Firdevs, Darcan Sukran, Bideci Aysun, Guven Ayla, Demir Korcan, Akinci Aysehan, Buyukinan Muammer, Aydin Banu Kucukemre, Turan Serap, Agladioglu Sebahat Yilmaz, Atay Zeynep, Abali Zehra Yavas, Tarim Omer, Catli Gonul, Yuksel Bilgin, Akcay Teoman, Yildiz Metin, Ozen Samim, Doger Esra, Demirbilek Huseyin, Ucar Ahmet, Isik Emregul, Ozhan Bayram, Bolu Semih, Ozgen Ilker Tolga, Suntharalingham Jenifer P, Achermann John C
Abstract excerpt
CONTEXT: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important...
Topics
- Adolescent
- Adrenal Insufficiency
- Age of Onset
- Child
- Child, Preschool
- Cohort Studies
- DNA
- Female