Publication: Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
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Date
2016-01-01
Authors
Authors
GÜRAN, TÜLAY
Buonocore, Federica
Saka, Nurcin
OZBEK, Mehmet Nuri
Aycan, Zehra
BEREKET, ABDULLAH
Bas, Firdevs
DARCAN, ŞÜKRAN
Bideci, Aysun
GUVEN, Ayla
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Abstract
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.
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GÜRAN T., Buonocore F., Saka N., OZBEK M. N. , Aycan Z., BEREKET A., Bas F., DARCAN Ş., Bideci A., GUVEN A., et al., -Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort-, JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.101, ss.283-291, 2016