Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort
- Guran, T.
- Buonocore, F.
- Saka, N.
- Ozbek, M.N.
- Aycan, Z.
- Bereket, A.
- Bas, F.
- Darcan, S.
- Bideci, A.
- Guven, A.
- Demir, K.
- Akinci, A.
- Buyukinan, M.
- Aydin, B.K.
- Turan, S.
- Agladioglu, S.Y.
- Atay, Z.
- Abali, Z.Y.
- Tarim, O.
- Catli, G.
- Yuksel, B.
- Akcay, T.
- Yildiz, M.
- Ozen, S.
- Doger, E.
- Demirbilek, H.
- Ucar, A.
- Isik, E.
- Özhan, Bayram
- Bolu, S.
- Ozgen, I.T.
- Suntharalingham, J.P.
- Achermann, J.C.
DOIAbstract
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 implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using H...
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